#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
TMPRSS15	5651	broad.mit.edu	37	21	19732164	19732164	+	Missense_Mutation	SNP	A	A	G	rs201269085	byFrequency	TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr21:19732164A>G	ENST00000284885.3	-	8	823	c.790T>C	c.(790-792)Tcc>Ccc	p.S264P		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	264	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AGTTTAATGGAAAGTCCTTGG	0.264													A|||	4	0.000798722	0.003	0.0	5008	,	,		15556	0.0		0.0	False		,,,				2504	0.0					ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(790-792)Tcc>Ccc		transmembrane protease, serine 15		A	PRO/SER	3,4361		0,3,2179	29.0	34.0	33.0		790	3.8	1.0	21		33	0,8514		0,0,4257	yes	missense	TMPRSS15	NM_002772.2	74	0,3,6436	GG,GA,AA		0.0,0.0687,0.0233	probably-damaging	264/1020	19732164	3,12875	2182	4257	6439	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19732164A>G		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.790T>C	21.37:g.19732164A>G	ENSP00000284885:p.Ser264Pro						p.S264P	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			8	823	-			264			CUB 1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.790T>C	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.952600	0.34471	6.87E-4	0.0	ENSG00000154646	ENST00000284885	T	0.19532	2.14	4.95	3.79	0.43588	CUB (5);	0.070531	0.56097	D	0.000021	T	0.34337	0.0894	M	0.64260	1.97	0.37557	D	0.9189	P	0.51653	0.947	P	0.58210	0.835	T	0.20207	-1.0282	9	.	.	.	.	8.7787	0.34778	0.8093:0.1907:0.0:0.0	.	264	P98073	ENTK_HUMAN	P	264	ENSP00000284885:S264P	.	S	-	1	0	TMPRSS15	18654035	0.998000	0.40836	0.993000	0.49108	0.149000	0.21700	1.860000	0.39428	0.901000	0.36495	-0.973000	0.02599	TCC		0.264	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		20	32	0	0	0	1	0	20	32				
NET1	10276	broad.mit.edu	37	10	5498930	5498930	+	Silent	SNP	T	T	C			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr10:5498930T>C	ENST00000355029.4	+	12	1906	c.1764T>C	c.(1762-1764)ggT>ggC	p.G588G	NET1_ENST00000542715.1_Silent_p.G407G|NET1_ENST00000380359.3_Silent_p.G534G	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	588					apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCCTTTCTGGTGGCAAACGGA	0.483																																						ENST00000355029.4																			0				breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						c.(1762-1764)ggT>ggC		neuroepithelial cell transforming 1							59.0	64.0	62.0					10																	5498930		2203	4300	6503	SO:0001819	synonymous_variant	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5498930T>C	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.1764T>C	10.37:g.5498930T>C						NET1_ENST00000542715.1_Silent_p.G407G|NET1_ENST00000380359.3_Silent_p.G534G	p.G588G	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN			12	1906	+			588					Q12773|Q96D82|Q99903|Q9UEN6	Silent	SNP	ENST00000355029.4	37	c.1764T>C	CCDS41483.1																																																																																				0.483	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		4	89	0	0	0	1	0	4	89				
BMS1	9790	broad.mit.edu	37	10	43318593	43318593	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr10:43318593G>A	ENST00000374518.5	+	20	3223	c.3160G>A	c.(3160-3162)Gcc>Acc	p.A1054T		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1054					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTGGAAGTGGCCAAATTTGA	0.423																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3160-3162)Gcc>Acc		BMS1 ribosome biogenesis factor							77.0	82.0	80.0					10																	43318593		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318593G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3160G>A	10.37:g.43318593G>A	ENSP00000363642:p.Ala1054Thr						p.A1054T	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			20	3223	+			1054					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3160G>A	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330070	0.95733	.	.	ENSG00000165733	ENST00000374518	T	0.18016	2.24	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36386	0.0965	M	0.71296	2.17	0.80722	D	1	P	0.50819	0.939	P	0.56278	0.795	T	0.10567	-1.0624	10	0.37606	T	0.19	.	17.7203	0.88349	0.0:0.0:1.0:0.0	.	1054	Q14692	BMS1_HUMAN	T	1054	ENSP00000363642:A1054T	ENSP00000363642:A1054T	A	+	1	0	BMS1	42638599	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.443000	0.97568	2.250000	0.74265	0.454000	0.30748	GCC		0.423	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		4	194	0	0	0	1	0	4	194				
FAM71A	149647	broad.mit.edu	37	1	212798743	212798743	+	Missense_Mutation	SNP	G	G	A	rs201312997		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr1:212798743G>A	ENST00000294829.3	+	1	955	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	175						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TACCTCTTGCGGCCACCCATG	0.517													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22187	0.0		0.0	False		,,,				2504	0.0					ENST00000294829.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(523-525)cGg>cAg		family with sequence similarity 71, member A							109.0	114.0	112.0					1																	212798743		2203	4300	6503	SO:0001583	missense	149647							g.chr1:212798743G>A		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.524G>A	1.37:g.212798743G>A	ENSP00000294829:p.Arg175Gln					RP11-338C15.5_ENST00000427949.1_RNA	p.R175Q	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	955	+			175					Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.524G>A	CCDS1507.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	6.196	0.404307	0.11754	.	.	ENSG00000162771	ENST00000294829	T	0.20200	2.09	4.54	1.58	0.23477	.	0.279284	0.23893	N	0.043524	T	0.15392	0.0371	L	0.46947	1.48	0.09310	N	1	B	0.13594	0.008	B	0.17433	0.018	T	0.18335	-1.0340	10	0.41790	T	0.15	-6.1149	4.1224	0.10111	0.1946:0.0:0.6224:0.183	.	175	Q8IYT1	FA71A_HUMAN	Q	175	ENSP00000294829:R175Q	ENSP00000294829:R175Q	R	+	2	0	FAM71A	210865366	0.059000	0.20769	0.001000	0.08648	0.173000	0.22820	0.734000	0.26101	0.249000	0.21456	-0.222000	0.12452	CGG		0.517	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		85	128	0	0	0	1	0	85	128				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	76	0	0	0	1	0	4	76				
NHLRC1	378884	broad.mit.edu	37	6	18121764	18121764	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:18121764C>T	ENST00000340650.3	-	1	1087	c.1074G>A	c.(1072-1074)atG>atA	p.M358I		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	358					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CATGAGTGACCATGGGCTTCG	0.448																																						ENST00000340650.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11						c.(1072-1074)atG>atA		NHL repeat containing 1							82.0	83.0	83.0					6																	18121764		2203	4300	6503	SO:0001583	missense	378884				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18121764C>T	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.1074G>A	6.37:g.18121764C>T	ENSP00000345464:p.Met358Ile						p.M358I	NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)		1	1087	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	358					Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	37	c.1074G>A	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	C	3.617	-0.078285	0.07184	.	.	ENSG00000187566	ENST00000340650	D	0.88201	-2.35	5.76	-0.55	0.11825	Six-bladed beta-propeller, TolB-like (1);	0.670270	0.14901	N	0.291823	T	0.36166	0.0957	N	0.00677	-1.265	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50906	-0.8772	10	0.24483	T	0.36	-2.3186	0.5628	0.00682	0.3327:0.2684:0.1975:0.2014	.	358	Q6VVB1	NHLC1_HUMAN	I	358	ENSP00000345464:M358I	ENSP00000345464:M358I	M	-	3	0	NHLRC1	18229743	0.000000	0.05858	0.031000	0.17742	0.476000	0.33039	-0.424000	0.07025	-0.467000	0.06932	0.655000	0.94253	ATG		0.448	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1			40	59	0	0	0	1	0	40	59				
CRYBA1	1411	broad.mit.edu	37	17	27580753	27580753	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr17:27580753G>A	ENST00000225387.3	+	5	454	c.453G>A	c.(451-453)atG>atA	p.M151I		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	151	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TGCAAGCCATGGGCTGGTTCA	0.453																																						ENST00000225387.3																			0				breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(451-453)atG>atA		crystallin, beta A1							83.0	82.0	83.0					17																	27580753		2203	4300	6503	SO:0001583	missense	1411				visual perception	soluble fraction	structural constituent of eye lens	g.chr17:27580753G>A		CCDS11249.1	17q11.2-q12	2008-07-18			ENSG00000108255	ENSG00000108255			2394	protein-coding gene	gene with protein product	"""eye lens structural protein"""	123610		CRYB1		3745196, 3770741	Standard	NM_005208		Approved		uc002hdw.3	P05813	OTTHUMG00000132729	ENST00000225387.3:c.453G>A	17.37:g.27580753G>A	ENSP00000225387:p.Met151Ile						p.M151I	NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		5	454	+			151			Beta/gamma crystallin 'Greek key' 3.		Q13633|Q14CM9	Missense_Mutation	SNP	ENST00000225387.3	37	c.453G>A	CCDS11249.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086242	0.76642	.	.	ENSG00000108255	ENST00000225387	T	0.73897	-0.79	5.43	5.43	0.79202	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.83330	0.5231	M	0.79011	2.435	0.80722	D	1	P	0.49253	0.921	P	0.55303	0.773	T	0.80908	-0.1172	10	0.25751	T	0.34	.	18.8098	0.92053	0.0:0.0:1.0:0.0	.	151	P05813	CRBA1_HUMAN	I	151	ENSP00000225387:M151I	ENSP00000225387:M151I	M	+	3	0	CRYBA1	24604879	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	9.353000	0.97080	2.538000	0.85594	0.491000	0.48974	ATG		0.453	CRYBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256071.2	NM_005208		20	41	0	0	0	1	0	20	41				
ZNF223	7766	broad.mit.edu	37	19	44570720	44570720	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr19:44570720C>T	ENST00000434772.3	+	5	994	c.739C>T	c.(739-741)Ctt>Ttt	p.L247F	ZNF223_ENST00000591793.1_Missense_Mutation_p.L357F	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	247					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TAGATCAGCACTTACAGTTCA	0.418																																						ENST00000591793.1																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1069-1071)Ctt>Ttt		zinc finger protein 223							164.0	162.0	162.0					19																	44570720		2203	4300	6503	SO:0001583	missense	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44570720C>T	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.739C>T	19.37:g.44570720C>T	ENSP00000401947:p.Leu247Phe					ZNF223_ENST00000434772.3_Missense_Mutation_p.L247F	p.L357F			Q9UK11	ZN223_HUMAN			7	1152	+		Prostate(69;0.0352)	247					Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	ENST00000434772.3	37	c.1069C>T	CCDS12635.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724172	0.68959	.	.	ENSG00000178386	ENST00000434772	T	0.52057	0.68	2.46	1.37	0.22104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64034	0.2562	M	0.79805	2.47	0.33966	D	0.64626	D	0.71674	0.998	D	0.67725	0.953	T	0.70868	-0.4755	9	0.62326	D	0.03	.	8.1947	0.31389	0.0:0.8665:0.0:0.1335	.	247	Q9UK11	ZN223_HUMAN	F	247	ENSP00000401947:L247F	ENSP00000401947:L247F	L	+	1	0	ZNF223	49262560	0.058000	0.20735	0.003000	0.11579	0.979000	0.70002	0.507000	0.22675	0.354000	0.24105	0.313000	0.20887	CTT		0.418	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			5	146	0	0	0	1	0	5	146				
SGOL2	151246	broad.mit.edu	37	2	201437641	201437641	+	Missense_Mutation	SNP	G	G	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:201437641G>T	ENST00000357799.4	+	7	2670	c.2572G>T	c.(2572-2574)Gtc>Ttc	p.V858F		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	858					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAATCTACAAGTCACAAATGA	0.299																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(2572-2574)Gtc>Ttc		shugoshin-like 2 (S. pombe)							85.0	83.0	84.0					2																	201437641		1805	4067	5872	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437641G>T	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2572G>T	2.37:g.201437641G>T	ENSP00000350447:p.Val858Phe						p.V858F	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	2670	+			858					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.2572G>T	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	1.533	-0.543782	0.04053	.	.	ENSG00000163535	ENST00000357799	T	0.12774	2.65	4.7	-0.773	0.10995	.	0.617668	0.13467	N	0.385735	T	0.08758	0.0217	N	0.22421	0.69	0.09310	N	1	B;B;P	0.36837	0.002;0.001;0.571	B;B;B	0.40659	0.007;0.007;0.336	T	0.25293	-1.0136	10	0.48119	T	0.1	4.8966	3.537	0.07798	0.4195:0.0:0.4064:0.1741	.	858;858;858	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	F	858	ENSP00000350447:V858F	ENSP00000350447:V858F	V	+	1	0	SGOL2	201145886	0.003000	0.15002	0.002000	0.10522	0.091000	0.18340	0.417000	0.21214	0.021000	0.15133	-0.224000	0.12420	GTC		0.299	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		46	64	1	0	2.00842e-17	1	2.17237e-17	46	64				
SSMEM1	136263	broad.mit.edu	37	7	129856182	129856182	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr7:129856182G>A	ENST00000297819.3	+	3	658	c.607G>A	c.(607-609)Gcc>Acc	p.A203T		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	203						integral component of membrane (GO:0016021)											CCACTGCAAAGCCTTGAGAAC	0.483																																						ENST00000297819.3																			0											c.(607-609)Gcc>Acc		serine-rich single-pass membrane protein 1							136.0	136.0	136.0					7																	129856182		2203	4300	6503	SO:0001583	missense	136263							g.chr7:129856182G>A	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 45"""	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.607G>A	7.37:g.129856182G>A	ENSP00000297819:p.Ala203Thr						p.A203T	NM_145268.3	NP_660311.1					3	658	+									Missense_Mutation	SNP	ENST00000297819.3	37	c.607G>A	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675198	0.67928	.	.	ENSG00000165120	ENST00000297819	T	0.58358	0.34	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000007	T	0.71937	0.3399	M	0.69823	2.125	0.41683	D	0.9893	D	0.89917	1.0	D	0.87578	0.998	T	0.75187	-0.3406	10	0.87932	D	0	-14.9162	16.0328	0.80593	0.0:0.0:1.0:0.0	.	203	Q8WWF3	CG045_HUMAN	T	203	ENSP00000297819:A203T	ENSP00000297819:A203T	A	+	1	0	C7orf45	129643418	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	4.973000	0.63763	2.566000	0.86566	0.491000	0.48974	GCC		0.483	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		98	122	0	0	0	1	0	98	122				
VARS2	57176	broad.mit.edu	37	6	30884915	30884915	+	Missense_Mutation	SNP	C	C	T	rs200002496		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:30884915C>T	ENST00000321897.5	+	8	1419	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	VARS2_ENST00000416670.2_Missense_Mutation_p.R263W|VARS2_ENST00000541562.1_Missense_Mutation_p.R293W|VARS2_ENST00000542001.1_Missense_Mutation_p.R123W			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	263					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.R263W(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGCTTTTGTGCGGCTCTACAA	0.557																																						ENST00000321897.5																			1	Substitution - Missense(1)	p.R263W(1)	lung(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(787-789)Cgg>Tgg		valyl-tRNA synthetase 2, mitochondrial							163.0	159.0	161.0					6																	30884915		1511	2709	4220	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30884915C>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.787C>T	6.37:g.30884915C>T	ENSP00000316092:p.Arg263Trp					VARS2_ENST00000542001.1_Missense_Mutation_p.R123W|VARS2_ENST00000541562.1_Missense_Mutation_p.R293W|VARS2_ENST00000416670.2_Missense_Mutation_p.R263W	p.R263W			Q5ST30	SYVM_HUMAN			8	1419	+			263					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.787C>T	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202930	0.79127	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000428017;ENST00000541562	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	4.98	4.98	0.66077	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.137660	0.47852	D	0.000201	T	0.63873	0.2548	M	0.93106	3.38	0.41300	D	0.987033	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.73388	-0.3998	10	0.87932	D	0	-6.0214	15.7772	0.78232	0.0:1.0:0.0:0.0	.	263;293;263	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	W	263;263;123;263;293	ENSP00000316092:R263W;ENSP00000394802:R263W;ENSP00000438200:R123W;ENSP00000403749:R263W;ENSP00000441000:R293W	ENSP00000316092:R263W	R	+	1	2	VARS2	30992894	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	3.036000	0.49767	2.581000	0.87130	0.655000	0.94253	CGG		0.557	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		4	168	0	0	0	1	0	4	168				
APOL3	80833	broad.mit.edu	37	22	36537327	36537327	+	Missense_Mutation	SNP	C	C	G	rs145559179	byFrequency	TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr22:36537327C>G	ENST00000349314.2	-	3	1167	c.1130G>C	c.(1129-1131)cGg>cCg	p.R377P	APOL3_ENST00000397287.2_Missense_Mutation_p.R177P|APOL3_ENST00000487423.1_5'Flank|APOL3_ENST00000424878.2_Missense_Mutation_p.R177P|APOL3_ENST00000361710.2_Missense_Mutation_p.R177P|APOL3_ENST00000397293.2_Missense_Mutation_p.R306P	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	377					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						CTGAGCCTGCCGCCTCAGCTC	0.542																																						ENST00000424878.2																			0				endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						c.(529-531)cGg>cCg		apolipoprotein L, 3							94.0	90.0	91.0					22																	36537327		2203	4300	6503	SO:0001583	missense	80833				inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity	g.chr22:36537327C>G	AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"""Apolipoproteins"""	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.1130G>C	22.37:g.36537327C>G	ENSP00000344577:p.Arg377Pro					APOL3_ENST00000397293.2_Missense_Mutation_p.R306P|APOL3_ENST00000397287.2_Missense_Mutation_p.R177P|APOL3_ENST00000361710.2_Missense_Mutation_p.R177P|APOL3_ENST00000349314.2_Missense_Mutation_p.R377P	p.R177P			O95236	APOL3_HUMAN			4	2678	-			377					B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	ENST00000349314.2	37	c.530G>C	CCDS13922.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236921	0.39498	.	.	ENSG00000128284	ENST00000397293;ENST00000424878;ENST00000349314;ENST00000361710;ENST00000397287	T;T;T;T;T	0.03441	3.93;3.93;3.93;3.93;3.93	4.14	1.97	0.26223	.	0.807698	0.11062	N	0.603918	T	0.04137	0.0115	N	0.19112	0.55	0.09310	N	1	D;D	0.56035	0.974;0.967	P;P	0.49502	0.613;0.478	T	0.45702	-0.9243	10	0.52906	T	0.07	.	5.8088	0.18454	0.0:0.2226:0.0:0.7774	.	377;306	O95236;O95236-2	APOL3_HUMAN;.	P	306;177;377;177;177	ENSP00000380461:R306P;ENSP00000415779:R177P;ENSP00000344577:R377P;ENSP00000355164:R177P;ENSP00000380456:R177P	ENSP00000344577:R377P	R	-	2	0	APOL3	34867273	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	0.434000	0.21494	0.258000	0.21686	-0.492000	0.04666	CGG		0.542	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319268.1	NM_145641		51	75	0	0	0	1	0	51	75				
WDR27	253769	broad.mit.edu	37	6	170013708	170013708	+	Silent	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:170013708G>A	ENST00000448612.1	-	22	2377	c.2268C>T	c.(2266-2268)ttC>ttT	p.F756F	WDR27_ENST00000423258.1_Silent_p.F629F|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000333572.6_Silent_p.F756F	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	726						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CCGTGGTCAGGAAAAGGTTAT	0.498																																						ENST00000333572.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12						c.(2266-2268)ttC>ttT		WD repeat domain 27							89.0	88.0	88.0					6																	170013708		1916	4126	6042	SO:0001819	synonymous_variant	253769							g.chr6:170013708G>A	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.2268C>T	6.37:g.170013708G>A						WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Silent_p.F756F|WDR27_ENST00000423258.1_Silent_p.F629F	p.F756F			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	22	2787	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	726					A5PLM8|C9JGV0|Q5T066	Silent	SNP	ENST00000448612.1	37	c.2268C>T	CCDS47520.2																																																																																				0.498	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		17	20	0	0	0	1	0	17	20				
SMC1A	8243	broad.mit.edu	37	X	53432432	53432432	+	Missense_Mutation	SNP	C	C	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chrX:53432432C>A	ENST00000322213.4	-	11	2031	c.1904G>T	c.(1903-1905)cGc>cTc	p.R635L	SMC1A_ENST00000375340.6_Missense_Mutation_p.R401L	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	635	Flexible hinge.				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CACCTTGTGGCGCTGGTGGCC	0.562																																						ENST00000322213.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(1903-1905)cGc>cTc		structural maintenance of chromosomes 1A							42.0	40.0	40.0					X																	53432432		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53432432C>A	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1904G>T	X.37:g.53432432C>A	ENSP00000323421:p.Arg635Leu					SMC1A_ENST00000375340.6_Missense_Mutation_p.R401L	p.R635L	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			11	2031	-			635			Flexible hinge.		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.1904G>T	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910392	0.92107	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	D;D	0.87179	-2.22;-2.22	5.55	5.55	0.83447	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.94974	0.8374	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.984;0.967;0.997	D	0.95834	0.8860	10	0.87932	D	0	.	17.4486	0.87586	0.0:1.0:0.0:0.0	.	401;613;635	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	L	635;401	ENSP00000323421:R635L;ENSP00000364489:R401L	ENSP00000323421:R635L	R	-	2	0	SMC1A	53449157	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.023000	0.76437	2.476000	0.83614	0.600000	0.82982	CGC		0.562	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		20	8	1	0	8.10497e-08	1	8.59127e-08	20	8				
ITIH6	347365	broad.mit.edu	37	X	54783902	54783902	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chrX:54783902T>C	ENST00000218436.6	-	8	2634	c.2605A>G	c.(2605-2607)Ata>Gta	p.I869V		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	869	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GAAAGTGATATGCTTGTGGAA	0.517																																						ENST00000218436.6																			0											c.(2605-2607)Ata>Gta		inter-alpha-trypsin inhibitor heavy chain family, member 6							73.0	66.0	68.0					X																	54783902		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783902T>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.2605A>G	X.37:g.54783902T>C	ENSP00000218436:p.Ile869Val						p.I869V	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	2634	-			869			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2605A>G	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.599563	0.00849	.	.	ENSG00000102313	ENST00000218436	T	0.02085	4.46	3.67	-4.19	0.03835	.	5.475700	0.01194	U	0.007412	T	0.01287	0.0042	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.46317	-0.9200	10	0.17369	T	0.5	.	3.9951	0.09554	0.1968:0.0:0.3521:0.4511	.	869	Q6UXX5	ITH5L_HUMAN	V	869	ENSP00000218436:I869V	ENSP00000218436:I869V	I	-	1	0	ITIH5L	54800627	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.070000	0.14573	-0.470000	0.06901	-1.690000	0.00728	ATA		0.517	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		9	33	0	0	0	1	0	9	33				
IAH1	285148	broad.mit.edu	37	2	9628441	9628441	+	Missense_Mutation	SNP	G	G	C			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:9628441G>C	ENST00000497473.1	+	6	767	c.730G>C	c.(730-732)Gga>Cga	p.G244R	IAH1_ENST00000482918.1_Missense_Mutation_p.G131R|IAH1_ENST00000470914.1_Missense_Mutation_p.G131R|IAH1_ENST00000545602.1_Missense_Mutation_p.G131R	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	244					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAGTCTGCTGGGAGATGGAGA	0.453																																						ENST00000470914.1																			0				breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						c.(391-393)Gga>Cga		isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)							94.0	84.0	87.0					2																	9628441		1902	4126	6028	SO:0001583	missense	285148				lipid catabolic process		hydrolase activity, acting on ester bonds	g.chr2:9628441G>C	BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.730G>C	2.37:g.9628441G>C	ENSP00000417580:p.Gly244Arg					IAH1_ENST00000497473.1_Missense_Mutation_p.G244R|IAH1_ENST00000545602.1_Missense_Mutation_p.G131R|IAH1_ENST00000482918.1_Missense_Mutation_p.G131R	p.G131R			Q2TAA2	IAH1_HUMAN			5	707	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		244					B4DMV3	Missense_Mutation	SNP	ENST00000497473.1	37	c.391G>C	CCDS42651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.787707|4.787707	0.90367|0.90367	.|.	.|.	ENSG00000134330|ENSG00000134330	ENST00000482918;ENST00000497473;ENST00000470914;ENST00000545602|ENST00000481367	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.304180|.	0.36665|.	N|.	0.002476|.	T|T	0.59985|0.59985	0.2234|0.2234	L|L	0.36672|0.36672	1.1|1.1	0.43550|0.43550	D|D	0.995854|0.995854	D|.	0.64830|.	0.994|.	P|.	0.59889|.	0.865|.	T|T	0.53012|0.53012	-0.8498|-0.8498	9|5	0.54805|.	T|.	0.06|.	-22.5588|-22.5588	16.8787|16.8787	0.86058|0.86058	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	244|.	Q2TAA2|.	IAH1_HUMAN|.	R|C	131;244;131;131|223	.|.	ENSP00000419224:G131R|.	G|W	+|+	1|3	0|0	IAH1|IAH1	9545892|9545892	.|.	.|.	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	.|.	.|.	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.453	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353192.1	NM_001039613		4	75	0	0	0	1	0	4	75				
CFAP44	55779	broad.mit.edu	37	3	113138965	113138965	+	Missense_Mutation	SNP	C	C	T	rs370318076		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr3:113138965C>T	ENST00000295868.2	-	5	631	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000393845.2_Missense_Mutation_p.A157T|WDR52-AS1_ENST00000498480.1_RNA	NM_018338.3	NP_060808.2												p.A157T(2)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATGTATATGGCGATACTGTCG	0.428																																						ENST00000393845.2																			2	Substitution - Missense(2)	p.A157T(2)	large_intestine(2)	breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(469-471)Gcc>Acc		WD repeat domain 52		C	THR/ALA,THR/ALA	0,4406		0,0,2203	133.0	122.0	126.0		469,469	-8.0	0.0	3		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	WDR52	NM_001164496.1,NM_018338.3	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	157/1855,157/983	113138965	1,13005	2203	4300	6503	SO:0001583	missense	55779							g.chr3:113138965C>T																												ENST00000295868.2:c.469G>A	3.37:g.113138965C>T	ENSP00000295868:p.Ala157Thr					WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000295868.2_Missense_Mutation_p.A157T|WDR52-AS1_ENST00000473329.1_RNA	p.A157T	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			5	535	-			157						Missense_Mutation	SNP	ENST00000295868.2	37	c.469G>A	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314456	0.23908	0.0	1.16E-4	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.42513	5.04;0.97	5.44	-8.02	0.01118	.	.	.	.	.	T	0.15955	0.0384	L	0.29908	0.895	0.09310	N	1	P	0.36768	0.569	B	0.19148	0.024	T	0.16247	-1.0409	9	0.41790	T	0.15	.	0.1572	0.00099	0.2433:0.241:0.2158:0.2999	.	157	Q96MT7	WDR52_HUMAN	T	157	ENSP00000377428:A157T;ENSP00000295868:A157T	ENSP00000295868:A157T	A	-	1	0	WDR52	114621655	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.367000	0.02583	-0.990000	0.03481	-0.140000	0.14226	GCC		0.428	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			13	23	0	0	0	1	0	13	23				
NRG3	10718	broad.mit.edu	37	10	84733606	84733606	+	Silent	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr10:84733606C>T	ENST00000404547.1	+	7	1347	c.1347C>T	c.(1345-1347)gtC>gtT	p.V449V	NRG3_ENST00000404576.2_Silent_p.V253V|NRG3_ENST00000372142.2_Silent_p.V228V|NRG3_ENST00000556918.1_Silent_p.V279V|NRG3_ENST00000537893.1_Silent_p.V99V|NRG3_ENST00000372141.2_Silent_p.V449V|NRG3_ENST00000545131.1_Silent_p.V99V			P56975	NRG3_HUMAN	neuregulin 3	449					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CAAGTTTTGTCGGCCCCCAGT	0.502																																						ENST00000372142.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(682-684)gtC>gtT		neuregulin 3							127.0	106.0	113.0					10																	84733606		2203	4300	6503	SO:0001819	synonymous_variant	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84733606C>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1347C>T	10.37:g.84733606C>T						NRG3_ENST00000404547.1_Silent_p.V449V|NRG3_ENST00000404576.2_Silent_p.V253V|NRG3_ENST00000372141.2_Silent_p.V449V|NRG3_ENST00000556918.1_Silent_p.V279V|NRG3_ENST00000537893.1_Silent_p.V99V|NRG3_ENST00000545131.1_Silent_p.V99V	p.V228V	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	8	958	+			449			Ser/Thr-rich.		A4D7U1|Q0PEH2|Q5VYH3	Silent	SNP	ENST00000404547.1	37	c.684C>T	CCDS31233.1																																																																																				0.502	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		4	61	0	0	0	1	0	4	61				
CEACAM20	125931	broad.mit.edu	37	19	45028281	45028281	+	RNA	SNP	G	G	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr19:45028281G>T	ENST00000454753.1	-	0	488							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CTGCAATGGAGGGTTTGGCCA	0.522																																						ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20							96.0	91.0	93.0					19																	45028281		2055	4207	6262			125931					integral to membrane		g.chr19:45028281G>T	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45028281G>T										Q6UY09	CEA20_HUMAN			0	488	-		Prostate(69;0.0352)							RNA	SNP	ENST00000454753.1	37																																																																																						0.522	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		3	33	1	0	1	1	1	3	33				
SLIT2	9353	broad.mit.edu	37	4	20569157	20569157	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr4:20569157T>C	ENST00000504154.1	+	28	3119	c.2867T>C	c.(2866-2868)gTc>gCc	p.V956A	SLIT2_ENST00000273739.5_Missense_Mutation_p.V960A|SLIT2_ENST00000503837.1_Missense_Mutation_p.V952A|SLIT2_ENST00000503823.1_Missense_Mutation_p.V948A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	956					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GACTGTGATGTCCCAATTCAT	0.443																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2866-2868)gTc>gCc		slit homolog 2 (Drosophila)							136.0	125.0	129.0					4																	20569157		2203	4299	6502	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20569157T>C	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2867T>C	4.37:g.20569157T>C	ENSP00000422591:p.Val956Ala					SLIT2_ENST00000273739.5_Missense_Mutation_p.V960A|SLIT2_ENST00000503837.1_Missense_Mutation_p.V952A|SLIT2_ENST00000503823.1_Missense_Mutation_p.V948A	p.V956A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			28	3119	+			956					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2867T>C	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.236928	0.39498	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	D;D;D;D;D	0.98313	-2.72;-2.72;-2.72;-2.72;-4.86	5.98	5.98	0.97165	.	0.363384	0.30329	N	0.009878	D	0.96119	0.8735	L	0.41415	1.275	0.32939	D	0.518189	B;B	0.10296	0.003;0.0	B;B	0.22152	0.038;0.007	D	0.95249	0.8358	10	0.18276	T	0.48	.	16.5257	0.84330	0.0:0.0:0.0:1.0	.	948;956	O94813-3;O94813	.;SLIT2_HUMAN	A	948;956;960;952;952;168	ENSP00000427548:V948A;ENSP00000422591:V956A;ENSP00000273739:V960A;ENSP00000422261:V952A;ENSP00000421975:V168A	ENSP00000273739:V960A	V	+	2	0	SLIT2	20178255	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.547000	0.53663	2.301000	0.77427	0.524000	0.50904	GTC		0.443	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			30	41	0	0	0	1	0	30	41				
UBBP4	23666	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547																																						ENST00000584755.1																			3	Substitution - Missense(3)	p.I191T(3)	kidney(2)|endometrium(1)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(571-573)aTc>aCc																																						SO:0001583	missense	0							g.chr17:21731270T>C	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.572T>C	17.37:g.21731270T>C	ENSP00000463647:p.Ile191Thr					UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR	p.I191T							2	969	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.572T>C																																																																																					0.547	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			4	84	0	0	0	1	0	4	84				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	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			30	40	0	0	0	1	0	30	40				
NOTCH1	4851	broad.mit.edu	37	9	139413213	139413213	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr9:139413213C>T	ENST00000277541.6	-	6	1004	c.929G>A	c.(928-930)gGg>gAg	p.G310E	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	310	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGGCAGGTCCCGCCGTTCTG	0.627			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(928-930)gGg>gAg		notch 1							41.0	52.0	48.0					9																	139413213		2201	4292	6493	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413213C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.929G>A	9.37:g.139413213C>T	ENSP00000277541:p.Gly310Glu	HNSCC(8;0.001)					p.G310E	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1004	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	310			EGF-like 8; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.929G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216979	0.95104	.	.	ENSG00000148400	ENST00000277541	D	0.90069	-2.61	5.3	5.3	0.74995	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95037	0.8393	M	0.87827	2.91	0.80722	D	1	D	0.65815	0.995	D	0.71414	0.973	D	0.95465	0.8546	10	0.62326	D	0.03	.	17.5056	0.87745	0.0:1.0:0.0:0.0	.	310	P46531	NOTC1_HUMAN	E	310	ENSP00000277541:G310E	ENSP00000277541:G310E	G	-	2	0	NOTCH1	138533034	0.994000	0.37717	0.996000	0.52242	0.997000	0.91878	3.906000	0.56340	2.477000	0.83638	0.561000	0.74099	GGG		0.627	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		6	55	0	0	0	1	0	6	55				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			0							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	68	0	0	0	1	0	3	68				
RBM28	55131	broad.mit.edu	37	7	127970947	127970947	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr7:127970947C>T	ENST00000223073.2	-	10	1168	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R	RBM28_ENST00000415472.2_Missense_Mutation_p.G211R	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	352	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G352L(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AGAAGCTCCCCAAGTTCTTCT	0.428																																						ENST00000223073.1																			1	Substitution - Missense(1)	p.G352L(1)	lung(1)	breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1054-1056)Ggg>Agg		RNA binding motif protein 28							98.0	88.0	92.0					7																	127970947		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127970947C>T	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1054G>A	7.37:g.127970947C>T	ENSP00000223073:p.Gly352Arg					RBM28_ENST00000415472.2_Missense_Mutation_p.G211R	p.G352R	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			10	1168	-			352			RRM 3.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.1054G>A	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432960	0.62844	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.12879	2.64;2.64	5.52	4.63	0.57726	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.098319	0.64402	D	0.000001	T	0.09024	0.0223	N	0.00793	-1.18	0.41672	D	0.989246	B;D	0.71674	0.025;0.998	B;D	0.69654	0.05;0.965	T	0.46091	-0.9216	10	0.09338	T	0.73	-20.0689	11.3677	0.49681	0.0:0.9128:0.0:0.0872	.	211;352	E9PDD9;Q9NW13	.;RBM28_HUMAN	R	352;211	ENSP00000223073:G352R;ENSP00000390517:G211R	ENSP00000223073:G352R	G	-	1	0	RBM28	127758183	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.805000	0.62561	2.599000	0.87857	0.655000	0.94253	GGG		0.428	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		26	47	0	0	0	1	0	26	47				
MEGF11	84465	broad.mit.edu	37	15	66206129	66206129	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr15:66206129G>A	ENST00000409699.2	-	20	2828	c.2656C>T	c.(2656-2658)Cgt>Tgt	p.R886C	MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.R811C|MEGF11_ENST00000395625.2_Missense_Mutation_p.R811C|MEGF11_ENST00000395614.1_Missense_Mutation_p.R59C|MEGF11_ENST00000422354.1_Missense_Mutation_p.R886C			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	886					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TAGGAGACACGGGGAGCCAGG	0.602																																						ENST00000409699.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(2656-2658)Cgt>Tgt		multiple EGF-like-domains 11							59.0	54.0	55.0					15																	66206129		2201	4299	6500	SO:0001583	missense	84465					basolateral plasma membrane|integral to membrane		g.chr15:66206129G>A	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.2656C>T	15.37:g.66206129G>A	ENSP00000386908:p.Arg886Cys					MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000422354.1_Missense_Mutation_p.R886C|MEGF11_ENST00000395625.2_Missense_Mutation_p.R811C|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.R811C|MEGF11_ENST00000395614.1_Missense_Mutation_p.R59C	p.R886C			A6BM72	MEG11_HUMAN			20	2828	-			886					Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.2656C>T	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000366	0.54147	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000395614	D;D;D;D;T	0.86865	-2.18;-2.06;-2.18;-2.06;1.44	4.65	4.65	0.58169	.	0.195993	0.24638	U	0.036821	T	0.76800	0.4038	N	0.22421	0.69	0.80722	D	1	B;B	0.29037	0.089;0.231	B;B	0.14023	0.004;0.01	T	0.76342	-0.2994	10	0.56958	D	0.05	.	10.7709	0.46321	0.0:0.0:0.6713:0.3286	.	886;811	A6BM72;A6BM72-2	MEG11_HUMAN;.	C	886;811;886;811;59	ENSP00000386908:R886C;ENSP00000288745:R811C;ENSP00000414475:R886C;ENSP00000378987:R811C;ENSP00000378976:R59C	ENSP00000288745:R811C	R	-	1	0	MEGF11	63993183	1.000000	0.71417	0.831000	0.32960	0.982000	0.71751	6.369000	0.73109	2.407000	0.81776	0.555000	0.69702	CGT		0.602	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		8	21	0	0	0	1	0	8	21				
TBC1D3	729873	broad.mit.edu	37	17	36352497	36352497	+	5'UTR	SNP	A	A	G			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr17:36352497A>G	ENST00000537432.1	-	0	351				RP11-1407O15.2_ENST00000312412.4_Silent_p.D430D|RP11-1407O15.2_ENST00000544906.1_Silent_p.D275D			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAAATATCTCATCAACCTCAG	0.393																																						ENST00000312412.4																			0				kidney(1)|lung(3)	4						c.(1288-1290)gaT>gaC																																						SO:0001623	5_prime_UTR_variant	0							g.chr17:36352497A>G		CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487	ENST00000537432.1:c.-138T>C	17.37:g.36352497A>G						RP11-1407O15.2_ENST00000544906.1_Silent_p.D275D|TBC1D3_ENST00000537432.1_5'UTR	p.D430D							11	1289	-								A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Silent	SNP	ENST00000537432.1	37	c.1290T>C	CCDS45658.1	.	.	.	.	.	.	.	.	.	.	A	4.523	0.097059	0.08681	.	.	ENSG00000174093	ENST00000523089	.	.	.	2.62	1.51	0.23008	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2212	0.25988	0.8838:0.0:0.1162:0.0	.	.	.	.	R	386	.	.	X	-	1	0	RP11-1407O15.2	33606296	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	2.850000	0.48294	0.247000	0.21414	0.163000	0.16589	TGA		0.393	TBC1D3-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001123391		7	82	0	0	0	1	0	7	82				
F12	2161	broad.mit.edu	37	5	176833045	176833045	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr5:176833045C>T	ENST00000253496.3	-	3	181	c.133G>A	c.(133-135)Gag>Aag	p.E45K	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	45	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	TGGCAGGGCTCCCCGGTGACA	0.597									Hereditary Angioedema																													ENST00000253496.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12						c.(133-135)Gag>Aag		coagulation factor XII (Hageman factor)							84.0	84.0	84.0					5																	176833045		2203	4300	6503	SO:0001583	missense	2161	Hereditary Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176833045C>T	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.133G>A	5.37:g.176833045C>T	ENSP00000253496:p.Glu45Lys						p.E45K	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	181	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	45			Fibronectin type-II.		P78339	Missense_Mutation	SNP	ENST00000253496.3	37	c.133G>A	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784536	0.49997	.	.	ENSG00000131187	ENST00000253496	D	0.85861	-2.04	5.31	4.43	0.53597	Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.289558	0.24710	N	0.036240	T	0.77315	0.4112	L	0.41961	1.31	0.80722	D	1	B	0.18461	0.028	B	0.17979	0.02	T	0.68104	-0.5497	10	0.12430	T	0.62	.	10.3263	0.43796	0.0:0.9055:0.0:0.0945	.	45	P00748	FA12_HUMAN	K	45	ENSP00000253496:E45K	ENSP00000253496:E45K	E	-	1	0	F12	176765651	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	2.726000	0.47302	1.224000	0.43551	0.591000	0.81541	GAG		0.597	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			9	137	0	0	0	1	0	9	137				
MPZL2	10205	broad.mit.edu	37	11	118133774	118133774	+	Silent	SNP	G	G	T	rs374636024		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr11:118133774G>T	ENST00000278937.2	-	2	225	c.97C>A	c.(97-99)Cgg>Agg	p.R33R	MPZL2_ENST00000438295.2_Silent_p.R33R|MPZL2_ENST00000525647.1_5'UTR	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	33	Ig-like V-type.				anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TCCAGCACCCGGGAGGTATAA	0.463																																						ENST00000278937.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11						c.(97-99)Cgg>Agg		myelin protein zero-like 2							139.0	148.0	145.0					11																	118133774		2200	4296	6496	SO:0001819	synonymous_variant	10205				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane		g.chr11:118133774G>T	AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"""Immunoglobulin superfamily / V-set domain containing"""	3496	protein-coding gene	gene with protein product		604873	"""epithelial V-like antigen 1"""	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.97C>A	11.37:g.118133774G>T						MPZL2_ENST00000525647.1_5'UTR|MPZL2_ENST00000438295.2_Silent_p.R33R	p.R33R	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	2	225	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	33			Ig-like V-type.		A8K2R1	Silent	SNP	ENST00000278937.2	37	c.97C>A	CCDS8393.1																																																																																				0.463	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797		14	272	1	0	1.35283e-19	1	1.49375e-19	14	272				
IMPG1	3617	broad.mit.edu	37	6	76660681	76660681	+	Missense_Mutation	SNP	C	C	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:76660681C>A	ENST00000369950.3	-	13	1611	c.1422G>T	c.(1420-1422)atG>atT	p.M474I	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CTGGTACTAGCATTGTCTGGT	0.498																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1420-1422)atG>atT		interphotoreceptor matrix proteoglycan 1							188.0	179.0	182.0					6																	76660681		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76660681C>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1422G>T	6.37:g.76660681C>A	ENSP00000358966:p.Met474Ile					IMPG1_ENST00000369963.3_3'UTR	p.M474I	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			13	1611	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	474						Missense_Mutation	SNP	ENST00000369950.3	37	c.1422G>T	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	6.242	0.412766	0.11812	.	.	ENSG00000112706	ENST00000369950	T	0.18338	2.22	5.29	-2.42	0.06542	.	0.737168	0.12219	N	0.488569	T	0.01558	0.0050	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45454	-0.9260	10	0.25751	T	0.34	.	0.7971	0.01068	0.2047:0.3075:0.1852:0.3026	.	474	Q17R60	IMPG1_HUMAN	I	474	ENSP00000358966:M474I	ENSP00000358966:M474I	M	-	3	0	IMPG1	76717401	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.325000	0.07976	0.015000	0.14971	-0.484000	0.04775	ATG		0.498	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		4	78	1	0	1	1	1	4	78				
MUC5B	727897	broad.mit.edu	37	11	1268736	1268736	+	Silent	SNP	A	A	G	rs71469870		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr11:1268736A>G	ENST00000529681.1	+	31	10684	c.10626A>G	c.(10624-10626)acA>acG	p.T3542T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T3545T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3542	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACAGCCACAGCCACACCCA	0.687																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10633-10635)acA>acG		mucin 5B, oligomeric mucus/gel-forming							71.0	107.0	95.0					11																	1268736		2093	4209	6302	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268736A>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10626A>G	11.37:g.1268736A>G						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3542T	p.T3545T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10693	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3542	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.10635A>G	CCDS44515.2																																																																																				0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	165	0	0	0	1	0	5	165				
FAM167B	84734	broad.mit.edu	37	1	32713189	32713189	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr1:32713189G>A	ENST00000373582.3	+	1	356	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	56								p.R56H(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAGGCCTGGCGCAGGGCCCAA	0.637																																						ENST00000373582.3																			1	Substitution - Missense(1)	p.R56H(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(166-168)cGc>cAc		family with sequence similarity 167, member B							35.0	45.0	42.0					1																	32713189		1949	4132	6081	SO:0001583	missense	84734							g.chr1:32713189G>A	BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 90"""	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.167G>A	1.37:g.32713189G>A	ENSP00000362684:p.Arg56His						p.R56H	NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN			1	356	+			56					Q5TDH6	Missense_Mutation	SNP	ENST00000373582.3	37	c.167G>A	CCDS358.2	.	.	.	.	.	.	.	.	.	.	g	9.421	1.083135	0.20309	.	.	ENSG00000183615	ENST00000373582	T	0.62639	0.01	5.32	-5.07	0.02938	.	1.202870	0.06305	U	0.701525	T	0.38480	0.1042	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20505	-1.0273	10	0.26408	T	0.33	-3.3016	8.7233	0.34454	0.5466:0.0:0.3569:0.0965	.	56	Q9BTA0	F167B_HUMAN	H	56	ENSP00000362684:R56H	ENSP00000362684:R56H	R	+	2	0	FAM167B	32485776	0.000000	0.05858	0.005000	0.12908	0.713000	0.41058	-0.761000	0.04751	-0.931000	0.03746	-0.258000	0.10820	CGC		0.637	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019615.2	NM_032648		7	30	0	0	0	1	0	7	30				
KRT25	147183	broad.mit.edu	37	17	38906799	38906799	+	Silent	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr17:38906799C>T	ENST00000312150.4	-	6	1068	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GCGCCAGCTGCGCACAGTAGT	0.562																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(1006-1008)gcG>gcA		keratin 25							135.0	137.0	136.0					17																	38906799		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38906799C>T	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1008G>A	17.37:g.38906799C>T							p.A336A	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			6	1068	-		Breast(137;0.00526)	336			Coil 2.|Rod.			Silent	SNP	ENST00000312150.4	37	c.1008G>A	CCDS11373.1																																																																																				0.562	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		115	181	0	0	0	1	0	115	181				
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs532197977		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr17:45128685T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TTCCAGGATATGGCTATACTG	0.303																																						ENST00000575173.1																			0																																																			0							g.chr17:45128685T>C																													17.37:g.45128685T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.303	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	144	0	0	0	1	0	5	144				
SEMA3G	56920	broad.mit.edu	37	3	52474396	52474396	+	Silent	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr3:52474396G>A	ENST00000231721.2	-	10	1139	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	380	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TACTCACCACGCCAGGGCGAG	0.662																																						ENST00000231721.2																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(1138-1140)ggC>ggT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							21.0	22.0	22.0					3																	52474396		2203	4300	6503	SO:0001819	synonymous_variant	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52474396G>A		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.1140C>T	3.37:g.52474396G>A							p.G380G	NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	10	1139	-			380			Sema.		Q7L9D9|Q9H7Q3	Silent	SNP	ENST00000231721.2	37	c.1140C>T	CCDS2856.1																																																																																				0.662	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		16	14	0	0	0	1	0	16	14				
EN2	2020	broad.mit.edu	37	7	155255269	155255269	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr7:155255269G>A	ENST00000297375.4	+	2	1138	c.889G>A	c.(889-891)Gcc>Acc	p.A297T		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	297					hindbrain development (GO:0030902)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron development (GO:0048666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAACAAGCGCGCCAAGATCAA	0.597																																						ENST00000297375.4																			0				central_nervous_system(1)|large_intestine(1)|lung(2)	4						c.(889-891)Gcc>Acc		engrailed homeobox 2							84.0	75.0	78.0					7																	155255269		2203	4300	6503	SO:0001583	missense	2020					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:155255269G>A		CCDS5940.1	7q36.2	2011-06-20	2007-02-15		ENSG00000164778	ENSG00000164778		"""Homeoboxes / ANTP class : NKL subclass"""	3343	protein-coding gene	gene with protein product		131310					Standard	NM_001427		Approved		uc003wmb.3	P19622	OTTHUMG00000151354	ENST00000297375.4:c.889G>A	7.37:g.155255269G>A	ENSP00000297375:p.Ala297Thr						p.A297T	NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	1138	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	297					A4D252|Q549U3|Q9UD58	Missense_Mutation	SNP	ENST00000297375.4	37	c.889G>A	CCDS5940.1	.	.	.	.	.	.	.	.	.	.	G	34	5.363216	0.95877	.	.	ENSG00000164778	ENST00000297375	D	0.97089	-4.24	5.11	5.11	0.69529	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98742	1.0717	10	0.56958	D	0.05	-26.6242	18.4904	0.90844	0.0:0.0:1.0:0.0	.	297	P19622	HME2_HUMAN	T	297	ENSP00000297375:A297T	ENSP00000297375:A297T	A	+	1	0	EN2	154948030	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.618000	0.83043	2.543000	0.85770	0.591000	0.81541	GCC		0.597	EN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322337.1	NM_001427		4	54	0	0	0	1	0	4	54				
TCHH	7062	broad.mit.edu	37	1	152082449	152082449	+	Missense_Mutation	SNP	T	T	C	rs199978971		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr1:152082449T>C	ENST00000368804.1	-	2	3243	c.3244A>G	c.(3244-3246)Aag>Gag	p.K1082E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1082	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.K1082E(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcctcttccttccgatattgc	0.607																																						ENST00000368804.1																			1	Substitution - Missense(1)	p.K1082E(1)	endometrium(1)	NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3244-3246)Aag>Gag		trichohyalin							102.0	106.0	105.0					1																	152082449		1986	4156	6142	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082449T>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3244A>G	1.37:g.152082449T>C	ENSP00000357794:p.Lys1082Glu						p.K1082E	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3243	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1082			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3244A>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	T	6.939	0.543097	0.13250	.	.	ENSG00000159450	ENST00000368804	T	0.06068	3.35	2.92	-0.391	0.12446	.	.	.	.	.	T	0.00412	0.0013	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44221	-0.9342	9	0.02654	T	1	-0.0583	2.25	0.04041	0.1808:0.3455:0.3555:0.1182	.	1082	Q07283	TRHY_HUMAN	E	1082	ENSP00000357794:K1082E	ENSP00000357794:K1082E	K	-	1	0	TCHH	150349073	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-2.878000	0.00716	-0.354000	0.08212	-0.413000	0.06143	AAG		0.607	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		5	305	0	0	0	1	0	5	305				
NT5C1B	93034	broad.mit.edu	37	2	18768318	18768318	+	Missense_Mutation	SNP	C	C	T	rs150116798	byFrequency	TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:18768318C>T	ENST00000359846.2	-	3	319	c.242G>A	c.(241-243)cGt>cAt	p.R81H	NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R81H|NT5C1B_ENST00000304081.4_Intron|NT5C1B_ENST00000460052.1_Intron|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R81H	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	81					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AATATAAATACGTATTGTGTG	0.547													C|||	11	0.00219649	0.0	0.0058	5008	,	,		18776	0.0		0.007	False		,,,				2504	0.0					ENST00000359846.2																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(241-243)cGt>cAt		5'-nucleotidase, cytosolic IB		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,,HIS/ARG,	10,4396	16.8+/-37.8	0,10,2193	64.0	56.0	59.0		242,191,242,242,,242,	3.5	1.0	2	dbSNP_134	59	56,8544	35.9+/-90.5	0,56,4244	yes	missense,missense,missense,missense,intron,missense,intron	NT5C1B,NT5C1B-RDH14	NM_001002006.2,NM_001199086.1,NM_001199087.1,NM_001199088.1,NM_001199103.1,NM_001199104.1,NM_033253.3	29,29,29,29,,29,	0,66,6437	TT,TC,CC		0.6512,0.227,0.5075	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,,possibly-damaging,	81/611,64/594,81/628,81/613,,81/603,	18768318	66,12940	2203	4300	6503	SO:0001583	missense	93034							g.chr2:18768318C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.242G>A	2.37:g.18768318C>T	ENSP00000352904:p.Arg81His					NT5C1B_ENST00000460052.1_Intron|NT5C1B_ENST00000304081.4_Intron|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R81H|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R81H	p.R81H	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1					3	319	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.242G>A	CCDS33150.1	8	0.003663003663003663	0	0.0	2	0.0055248618784530384	0	0.0	6	0.0079155672823219	C	18.31	3.596981	0.66332	0.00227	0.006512	ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000359846;ENST00000416783	.	.	.	5.31	3.45	0.39498	.	0.458928	0.18718	N	0.133104	T	0.16599	0.0399	N	0.14661	0.345	0.23820	N	0.996754	B;D;B;B;B	0.58620	0.015;0.983;0.015;0.015;0.025	B;P;B;B;B	0.49387	0.003;0.609;0.003;0.003;0.008	T	0.03423	-1.1038	9	0.87932	D	0	-3.4805	7.3162	0.26501	0.0:0.7405:0.1692:0.0903	.	64;81;64;81;81	E7EXB7;B4DZ86;B4DXZ9;Q96P26;Q96P26-4	.;.;.;5NT1B_HUMAN;.	H	81	.	ENSP00000352904:R81H	R	-	2	0	NT5C1B-RDH14;NT5C1B	18631799	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.738000	0.26158	1.496000	0.48567	-0.218000	0.12543	CGT		0.547	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			16	39	0	0	0	1	0	16	39				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	76	0	0	0	1	0	4	76				
SYCP1	6847	broad.mit.edu	37	1	115520223	115520224	+	Frame_Shift_Ins	INS	-	-	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr1:115520223_115520224insA	ENST00000369522.3	+	28	2608_2609	c.2368_2369insA	c.(2368-2370)gaafs	p.E790fs	SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.E790fs	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	790					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTAAAGAAAAAAAAGAC	0.252																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2368-2370)aaafs		synaptonemal complex protein 1																																				SO:0001589	frameshift_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115520223_115520224insA	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2376dupA	1.37:g.115520231_115520231dupA	ENSP00000358535:p.Glu790fs					SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K790fs	p.K790fs	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	28	2608_2609	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	790					O14963|Q5VXJ6	Frame_Shift_Ins	INS	ENST00000369522.3	37	c.2368_2369insA	CCDS879.1																																																																																				0.252	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		2	4						2	4	---	---	---	---
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:10917819_10917820delAG	ENST00000272238.4	+	11	1043_1044	c.934_935delAG	c.(934-936)agafs	p.R312fs	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	312					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000272238.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(934-936)afs		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2																																				SO:0001589	frameshift_variant	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10917819_10917820delAG	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.934_935delAG	2.37:g.10917829_10917830delAG	ENSP00000272238:p.Arg312fs					ATP6V1C2_ENST00000381661.3_Intron	p.R312fs	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	11	1043_1044	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		312					Q96EL8	Frame_Shift_Del	DEL	ENST00000272238.4	37	c.934_935delAG	CCDS42653.1																																																																																				0.604	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		7	128						7	128	---	---	---	---
IGKV1D-8	28904	broad.mit.edu	37	2	90259860	90259861	+	RNA	INS	-	-	C			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:90259860_90259861insC	ENST00000471857.1	+	0	236									immunoglobulin kappa variable 1D-8																		AATTTACTCAGCCAATGTGCTC	0.48																																						ENST00000471857.1																			0																																																			0							g.chr2:90259860_90259861insC	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90259862_90259862dupC														0	236	+									RNA	INS	ENST00000471857.1	37																																																																																						0.480	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		8	189						8	189	---	---	---	---
RP11-13J8.1	0	broad.mit.edu	37	2	201967218	201967218	+	lincRNA	DEL	G	G	-	rs371047928|rs368317583		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:201967218delG	ENST00000448256.1	+	0	628																											aaaaaaaaaagaaTTTGTTCT	0.463																																						ENST00000448256.1																			0																																																			0							g.chr2:201967218delG																													2.37:g.201967218delG														0	628	+									RNA	DEL	ENST00000448256.1	37																																																																																						0.463	RP11-13J8.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000347397.1			2	4						2	4	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	36953806	36953816	+	Frame_Shift_Del	DEL	GGGATATGCCC	GGGATATGCCC	-			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr5:36953806_36953816delGGGATATGCCC	ENST00000282516.8	+	2	507_517	c.8_18delGGGATATGCCC	c.(7-18)ggggatatgcccfs	p.GDMP3fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.GDMP3fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	3					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGGATGAATGGGGATATGCCCCATGTCCCCA	0.398																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	GRCh37	CI076976	NIPBL	I		c.(7-18)gfs		Nipped-B homolog (Drosophila)																																				SO:0001589	frameshift_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36953806_36953816delGGGATATGCCC	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.8_18delGGGATATGCCC	5.37:g.36953806_36953816delGGGATATGCCC	ENSP00000282516:p.Gly3fs					NIPBL_ENST00000448238.2_Frame_Shift_Del_p.GDMP3fs	p.GDMP3fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		2	507_517	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		3					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	c.8_18delGGGATATGCCC	CCDS3920.1																																																																																				0.398	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		9	119						9	119	---	---	---	---
SOX4	6659	broad.mit.edu	37	6	21594926	21594926	+	Frame_Shift_Del	DEL	C	C	-			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:21594926delC	ENST00000244745.1	+	1	955	c.161delC	c.(160-162)accfs	p.T54fs	SOX4_ENST00000543472.1_Frame_Shift_Del_p.T54fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	54					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			TGGTGCAAGACCCCGAGTGGG	0.687																																						ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(160-162)acfs		SRY (sex determining region Y)-box 4							21.0	21.0	21.0					6																	21594926		2201	4299	6500	SO:0001589	frameshift_variant	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21594926delC	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"""SRY (sex determining region Y)-boxes"""	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.161delC	6.37:g.21594926delC	ENSP00000244745:p.Thr54fs					SOX4_ENST00000543472.1_Frame_Shift_Del_p.T54fs	p.T54fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	955	+	Ovarian(93;0.163)		54						Frame_Shift_Del	DEL	ENST00000244745.1	37	c.161delC	CCDS4547.1																																																																																				0.687	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		8	4						8	4	---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48653249	48653251	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr17:48653249_48653251delCAC	ENST00000359106.5	+	8	1486_1488	c.1486_1488delCAC	c.(1486-1488)cacdel	p.H504del	CACNA1G_ENST00000352832.5_In_Frame_Del_p.H504del|CACNA1G_ENST00000429973.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000354983.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000416767.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000505165.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000514717.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000507609.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000507510.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000515165.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000502264.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000514079.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000515765.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000510366.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000442258.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000503485.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000510115.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000514181.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000507896.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000507336.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000515411.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000512389.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000513689.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000360761.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000358244.5_In_Frame_Del_p.H504del|CACNA1G_ENST00000513964.1_In_Frame_Del_p.H504del	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	504	Poly-His.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCACCTGGTGcaccaccaccacc	0.7																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(1486-1488)del		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)		,,,,,,,,,,,,,,	41,3783		2,37,1873					,,,,,,,,,,,,,,	-8.2	0.7			15	139,7763		4,131,3816	no	coding,coding,coding,coding,coding,coding,coding,coding,coding,coding,coding,coding,coding,coding,coding	CACNA1G	NM_198397.1,NM_198396.1,NM_198388.1,NM_198387.1,NM_198386.1,NM_198385.1,NM_198384.1,NM_198383.1,NM_198382.1,NM_198380.1,NM_198379.1,NM_198378.1,NM_198377.1,NM_198376.1,NM_018896.3	,,,,,,,,,,,,,,	6,168,5689	A1A1,A1R,RR		1.759,1.0722,1.5351	,,,,,,,,,,,,,,	,,,,,,,,,,,,,,		180,11546				SO:0001651	inframe_deletion	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48653249_48653251delCAC	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1486_1488delCAC	17.37:g.48653258_48653260delCAC	ENSP00000352011:p.His504del					CACNA1G_ENST00000359106.5_In_Frame_Del_p.H504del|CACNA1G_ENST00000354983.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000514181.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000507896.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000503485.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000507510.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000505165.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000360761.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000507336.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000507609.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000510115.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000512389.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000513689.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000513964.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000515765.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000502264.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000442258.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000514079.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000358244.5_In_Frame_Del_p.H504del|CACNA1G_ENST00000429973.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000515165.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000514717.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000515411.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000510366.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000416767.4_In_Frame_Del_p.H504del	p.H504del	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		8	1858_1860	+	Breast(11;6.7e-17)		504			Poly-His.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	In_Frame_Del	DEL	ENST00000359106.5	37	c.1486_1488delCAC	CCDS45730.1																																																																																				0.700	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		3	6						3	6	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42795743	42795744	+	Frame_Shift_Ins	INS	-	-	G	rs371384770|rs535815082		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr19:42795743_42795744insG	ENST00000575354.2	+	11	2772_2773	c.2732_2733insG	c.(2731-2736)ccgggtfs	p.PG911fs	CIC_ENST00000160740.3_Frame_Shift_Ins_p.PG911fs|CIC_ENST00000572681.2_Frame_Shift_Ins_p.PG1820fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	911	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P911P(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCCCGCCCCCGGGTGGCTCAG	0.649			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		1	Substitution - coding silent(1)	p.P911P(1)	upper_aerodigestive_tract(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(5458-5460)cggfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795743_42795744insG	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2735dupG	19.37:g.42795746_42795746dupG	ENSP00000458663:p.Pro911fs					CIC_ENST00000575354.2_Frame_Shift_Ins_p.R911fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.R911fs	p.R1820fs			Q96RK0	CIC_HUMAN			12	5527_5528	+		Prostate(69;0.00682)	911					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.5459_5460insG	CCDS12601.1																																																																																				0.649	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			128	74						128	74	---	---	---	---
