#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
SMARCA2	6595	broad.mit.edu	37	9	2039779	2039779	+	Silent	SNP	G	G	A	rs376509101|rs62639301	byFrequency	TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr9:2039779G>A	ENST00000382203.1	+	4	878	c.669G>A	c.(667-669)caG>caA	p.Q223Q	RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000382194.1_Silent_p.Q223Q|SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	223	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagcagcagc	0.642																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(667-669)caG>caA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							10.0	13.0	12.0					9																	2039779		2187	4260	6447	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039779G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.669G>A	9.37:g.2039779G>A						SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Silent_p.Q223Q	p.Q223Q			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	878	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	223			Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.669G>A	CCDS34977.1																																																																																				0.642	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		5	48	0	0	0	1	0	5	48				
TMEM177	80775	broad.mit.edu	37	2	120438904	120438904	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr2:120438904G>A	ENST00000424086.1	+	2	948	c.475G>A	c.(475-477)Gtg>Atg	p.V159M	TMEM177_ENST00000401466.1_Missense_Mutation_p.V159M|TMEM177_ENST00000272521.6_Missense_Mutation_p.V159M|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	159						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CAGGGAAGTGGTGTACCTGGA	0.662																																						ENST00000424086.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(475-477)Gtg>Atg		transmembrane protein 177							69.0	77.0	75.0					2																	120438904		2203	4300	6503	SO:0001583	missense	80775					integral to membrane		g.chr2:120438904G>A	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.475G>A	2.37:g.120438904G>A	ENSP00000402661:p.Val159Met					TMEM177_ENST00000272521.6_Missense_Mutation_p.V159M|TMEM177_ENST00000401466.1_Missense_Mutation_p.V159M|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000496203.1_Intron	p.V159M	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN			2	948	+	Colorectal(110;0.196)		159					Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	c.475G>A	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	G	9.706	1.155754	0.21454	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000415646	T;T;T	0.46819	0.86;0.86;0.86	4.36	0.215	0.15253	.	0.187736	0.46145	N	0.000320	T	0.33294	0.0858	L	0.43701	1.375	0.39946	D	0.974473	B	0.18166	0.026	B	0.21708	0.036	T	0.07712	-1.0758	10	0.35671	T	0.21	-1.0467	5.4991	0.16819	0.2784:0.1489:0.5727:0.0	.	159	Q53S58	TM177_HUMAN	M	159	ENSP00000385966:V159M;ENSP00000402661:V159M;ENSP00000272521:V159M	ENSP00000272521:V159M	V	+	1	0	TMEM177	120155374	0.984000	0.35163	0.898000	0.35279	0.836000	0.47400	0.462000	0.21956	0.218000	0.20820	-0.480000	0.04831	GTG		0.662	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		8	166	0	0	0	1	0	8	166				
CACNA1E	777	broad.mit.edu	37	1	181745355	181745355	+	Missense_Mutation	SNP	G	G	A	rs371470806		TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:181745355G>A	ENST00000367573.2	+	38	5258	c.5258G>A	c.(5257-5259)cGa>cAa	p.R1753Q	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1704Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1753Q|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1734Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1685Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1734Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1360Q	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1753	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAATATGACCGAGCAGCATGG	0.612																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(5200-5202)cGa>cAa		calcium channel, voltage-dependent, R type, alpha 1E subunit		G	GLN/ARG,GLN/ARG,GLN/ARG	0,3900		0,0,1950	101.0	102.0	102.0		5258,5258,5201	5.3	1.0	1		102	1,8271		0,1,4135	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	43,43,43	0,1,6085	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging	1753/2271,1753/2314,1734/2252	181745355	1,12171	1950	4136	6086	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181745355G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5258G>A	1.37:g.181745355G>A	ENSP00000356545:p.Arg1753Gln					CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1360Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1704Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1734Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1685Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1753Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1753Q	p.R1734Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			37	5366	+			1753					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5201G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	34	5.386960	0.95988	0.0	1.21E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96104	-3.84;-3.84;-3.85;-3.84;-3.91;-3.85;-3.85	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	L	0.34521	1.04	0.58432	D	0.999994	D;D;D	0.76494	0.99;0.992;0.999	P;P;P	0.61874	0.877;0.881;0.895	D	0.96583	0.9432	10	0.72032	D	0.01	.	18.5437	0.91039	0.0:0.0:1.0:0.0	.	1734;1753;1753	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	Q	1753;1734;1704;1685;1360;1734;1753	ENSP00000356542:R1753Q;ENSP00000434814:R1734Q;ENSP00000350183:R1704Q;ENSP00000351101:R1685Q;ENSP00000356539:R1360Q;ENSP00000353222:R1734Q;ENSP00000356545:R1753Q	ENSP00000350183:R1704Q	R	+	2	0	CACNA1E	180011978	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	6.509000	0.73725	2.479000	0.83701	0.655000	0.94253	CGA		0.612	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		79	104	0	0	0	1	0	79	104				
PCDHB17	54661	broad.mit.edu	37	5	140537272	140537272	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr5:140537272C>T	ENST00000539533.1	+	1	1696	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C						protocadherin beta 17 pseudogene																		GTGCTGTACCCGCTGCAGAAC	0.721																																						ENST00000539533.1																			0											c.(1696-1698)Cgc>Tgc																																						SO:0001583	missense	0							g.chr5:140537272C>T	AF152527		5q31	2010-01-26				ENSG00000255622		"""Cadherins / Protocadherins : Clustered"""	14547	pseudogene	pseudogene						10380929	Standard	NR_001280		Approved	PCDH-psi1	uc003lis.3			ENST00000539533.1:c.1696C>T	5.37:g.140537272C>T	ENSP00000438685:p.Arg566Cys						p.R566C							1	1696	+									Missense_Mutation	SNP	ENST00000539533.1	37	c.1696C>T		.	.	.	.	.	.	.	.	.	.	C	24.5	4.543474	0.86022	.	.	ENSG00000255622	ENST00000539533	T	0.56941	0.43	4.99	4.99	0.66335	.	.	.	.	.	T	0.49321	0.1550	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.56013	-0.8049	7	0.72032	D	0.01	.	18.3093	0.90193	0.0:1.0:0.0:0.0	.	566	Q96T98	.	C	566	ENSP00000438685:R566C	ENSP00000438685:R566C	R	+	1	0	AC005754.1	140517456	0.992000	0.36948	1.000000	0.80357	0.984000	0.73092	3.548000	0.53670	2.486000	0.83907	0.556000	0.70494	CGC		0.721	PCDHB17-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				4	95	0	0	0	1	0	4	95				
MUC6	4588	broad.mit.edu	37	11	1027159	1027159	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr11:1027159G>A	ENST00000421673.2	-	18	2316	c.2266C>T	c.(2266-2268)Cgg>Tgg	p.R756W		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	756					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCTGTGGCCGCTGCGGGCAA	0.701																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2266-2268)Cgg>Tgg		mucin 6, oligomeric mucus/gel-forming							25.0	36.0	33.0					11																	1027159		1985	4151	6136	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1027159G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2266C>T	11.37:g.1027159G>A	ENSP00000406861:p.Arg756Trp						p.R756W	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	18	2316	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	756					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.2266C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	g	12.67	2.007114	0.35415	.	.	ENSG00000184956	ENST00000421673	T	0.19532	2.14	4.15	3.21	0.36854	.	.	.	.	.	T	0.27313	0.0670	L	0.27053	0.805	0.09310	N	1	D	0.71674	0.998	P	0.57620	0.824	T	0.09335	-1.0679	9	0.66056	D	0.02	.	11.9803	0.53115	0.0:0.0:0.8263:0.1736	.	756	Q6W4X9	MUC6_HUMAN	W	756	ENSP00000406861:R756W	ENSP00000406861:R756W	R	-	1	2	MUC6	1017159	0.007000	0.16637	0.002000	0.10522	0.009000	0.06853	1.140000	0.31516	1.022000	0.39626	0.556000	0.70494	CGG		0.701	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		5	92	0	0	0	1	0	5	92				
ADCY1	107	broad.mit.edu	37	7	45750138	45750138	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr7:45750138G>T	ENST00000297323.7	+	19	2966	c.2944G>T	c.(2944-2946)Ggc>Tgc	p.G982C		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	982					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CATCAATGTTGGCCCTGTGGT	0.577																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2944-2946)Ggc>Tgc		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						89.0	84.0	86.0					7																	45750138		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45750138G>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2944G>T	7.37:g.45750138G>T	ENSP00000297323:p.Gly982Cys						p.G982C	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			19	2966	+			982					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.2944G>T	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308189	0.81247	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	D	0.86769	-2.17	4.97	4.97	0.65823	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.96744	0.8937	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98147	1.0439	10	0.87932	D	0	.	16.1123	0.81271	0.0:0.0:1.0:0.0	.	982	Q08828	ADCY1_HUMAN	C	982	ENSP00000297323:G982C	ENSP00000297323:G982C	G	+	1	0	ADCY1	45716663	1.000000	0.71417	0.968000	0.41197	0.695000	0.40330	9.044000	0.93805	2.739000	0.93911	0.561000	0.74099	GGC		0.577	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		8	115	1	0	0.000673444	1	0.000695168	8	115				
CD300LB	124599	broad.mit.edu	37	17	72522097	72522097	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr17:72522097G>A	ENST00000392621.1	-	2	275	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	CD300LB_ENST00000314401.3_Missense_Mutation_p.R91C	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	54	Ig-like V-type.				cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GTATCCCAGCGCACCCCTCGG	0.547																																						ENST00000392621.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						c.(271-273)Cgc>Tgc		CD300 molecule-like family member b							212.0	192.0	199.0					17																	72522097		2203	4300	6503	SO:0001583	missense	124599					integral to membrane|plasma membrane	receptor activity	g.chr17:72522097G>A	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"""Immunoglobulin superfamily / V-set domain containing"""	30811	protein-coding gene	gene with protein product	"""triggering receptor expressed on myeloid cells 5"""	610705	"""CD300 antigen like family member B"""			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.271C>T	17.37:g.72522097G>A	ENSP00000376397:p.Arg91Cys					CD300LB_ENST00000314401.3_Missense_Mutation_p.R91C	p.R91C	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN			2	275	-			54			Ig-like V-type.		Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	c.271C>T	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	G	6.028	0.373549	0.11409	.	.	ENSG00000178789	ENST00000392621;ENST00000314401	T	0.04275	3.66	5.05	-10.1	0.00402	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	5.990380	0.00166	N	0.000006	T	0.05547	0.0146	N	0.19112	0.55	0.09310	N	1	D;D	0.61697	0.979;0.99	P;P	0.59595	0.86;0.86	T	0.48055	-0.9068	10	0.37606	T	0.19	-16.4545	1.1869	0.01856	0.3489:0.1925:0.2973:0.1613	.	91;54	B4DQ71;A8K4G0	.;CLM7_HUMAN	C	54;91	ENSP00000317337:R91C	ENSP00000317337:R91C	R	-	1	0	CD300LB	70033692	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.856000	0.00051	-3.600000	0.00134	-0.457000	0.05445	CGC		0.547	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		94	142	0	0	0	1	0	94	142				
SYNJ2	8871	broad.mit.edu	37	6	158514069	158514069	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr6:158514069T>A	ENST00000355585.4	+	26	3752	c.3677T>A	c.(3676-3678)cTc>cAc	p.L1226H	SYNJ2_ENST00000367121.3_Missense_Mutation_p.L1226H|SYNJ2_ENST00000367112.1_Missense_Mutation_p.L311H|SYNJ2_ENST00000367122.2_Missense_Mutation_p.L1181H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1226	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCGCCCCCACTCCTTCCCCGT	0.592																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3676-3678)cTc>cAc		synaptojanin 2							47.0	53.0	51.0					6																	158514069		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158514069T>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3677T>A	6.37:g.158514069T>A	ENSP00000347792:p.Leu1226His					SYNJ2_ENST00000367112.1_Missense_Mutation_p.L311H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.L1226H|SYNJ2_ENST00000367122.2_Missense_Mutation_p.L1181H	p.L1226H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	26	3752	+			1226			Pro-rich.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.3677T>A	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.232146	0.58777	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000367112	D;D;D;T	0.94537	-3.36;-3.45;-3.22;0.61	5.57	1.72	0.24424	.	0.395756	0.21644	N	0.071297	D	0.89178	0.6641	L	0.43923	1.385	0.18873	N	0.999989	D;D;D	0.63046	0.992;0.986;0.989	P;P;P	0.55345	0.711;0.711;0.774	D	0.83972	0.0327	10	0.66056	D	0.02	.	5.691	0.17829	0.0:0.2142:0.1317:0.6541	.	621;1226;1226	B4DLC4;O15056;O15056-3	.;SYNJ2_HUMAN;.	H	1181;1226;1226;311	ENSP00000356089:L1181H;ENSP00000356088:L1226H;ENSP00000347792:L1226H;ENSP00000356079:L311H	ENSP00000347792:L1226H	L	+	2	0	SYNJ2	158434057	0.004000	0.15560	0.010000	0.14722	0.105000	0.19272	0.473000	0.22132	-0.537000	0.06290	-0.133000	0.14855	CTC		0.592	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			8	65	0	0	0	1	0	8	65				
LMO7	4008	broad.mit.edu	37	13	76379699	76379699	+	Silent	SNP	G	G	A			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr13:76379699G>A	ENST00000321797.8	+	7	1021	c.300G>A	c.(298-300)gaG>gaA	p.E100E	LMO7_ENST00000526202.1_Intron|LMO7_ENST00000357063.3_Silent_p.E385E|LMO7_ENST00000377534.3_Silent_p.E385E|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Silent_p.E100E			Q8WWI1	LMO7_HUMAN	LIM domain 7	385	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATTTGGAAGAGGAAAAAGCAA	0.433																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1153-1155)gaG>gaA		LIM domain 7							211.0	191.0	197.0					13																	76379699		1568	3582	5150	SO:0001819	synonymous_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76379699G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.300G>A	13.37:g.76379699G>A						LMO7_ENST00000465261.2_Silent_p.E100E|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000321797.8_Silent_p.E100E|LMO7_ENST00000377534.3_Silent_p.E385E|LMO7_ENST00000526202.1_Intron	p.E385E			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	10	2415	+		Breast(118;0.0992)	385					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Silent	SNP	ENST00000321797.8	37	c.1155G>A																																																																																					0.433	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		5	197	0	0	0	1	0	5	197				
SDF4	51150	broad.mit.edu	37	1	1154157	1154157	+	Missense_Mutation	SNP	C	C	T	rs192791486	byFrequency	TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:1154157C>T	ENST00000360001.6	-	5	990	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	SDF4_ENST00000263741.7_Missense_Mutation_p.R243Q			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	243	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		ACCCAGGTCCCGGACGATCTC	0.697													c|||	4	0.000798722	0.0	0.0	5008	,	,		15130	0.004		0.0	False		,,,				2504	0.0					ENST00000263741.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(727-729)cGg>cAg		stromal cell derived factor 4							64.0	70.0	68.0					1																	1154157		2203	4300	6503	SO:0001583	missense	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	g.chr1:1154157C>T		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.728G>A	1.37:g.1154157C>T	ENSP00000353094:p.Arg243Gln					SDF4_ENST00000360001.6_Missense_Mutation_p.R243Q	p.R243Q	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	5	1020	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	243			EF-hand 4.		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	ENST00000360001.6	37	c.728G>A	CCDS30553.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	17.33	3.361760	0.61403	.	.	ENSG00000078808	ENST00000360001;ENST00000263741	T;T	0.20069	2.1;2.1	4.55	4.55	0.56014	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.68039	0.955;0.787	T	0.19095	-1.0316	10	0.45353	T	0.12	-28.832	16.2798	0.82670	0.0:1.0:0.0:0.0	.	243;243	Q9BRK5-6;Q9BRK5	.;CAB45_HUMAN	Q	243	ENSP00000353094:R243Q;ENSP00000263741:R243Q	ENSP00000263741:R243Q	R	-	2	0	SDF4	1144020	1.000000	0.71417	0.947000	0.38551	0.829000	0.46940	5.803000	0.69129	2.058000	0.61347	0.305000	0.20034	CGG		0.697	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		6	192	0	0	0	1	0	6	192				
CADPS	8618	broad.mit.edu	37	3	62535600	62535600	+	Silent	SNP	C	C	G			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr3:62535600C>G	ENST00000383710.4	-	11	2293	c.1944G>C	c.(1942-1944)ctG>ctC	p.L648L	CADPS_ENST00000357948.3_Silent_p.L648L|CADPS_ENST00000283269.9_Silent_p.L648L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	648					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TAGGGGCATCCAGCTGAGGTA	0.473																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(1942-1944)ctG>ctC		Ca++-dependent secretion activator							101.0	94.0	97.0					3																	62535600		2203	4300	6503	SO:0001819	synonymous_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62535600C>G	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1944G>C	3.37:g.62535600C>G						CADPS_ENST00000357948.3_Silent_p.L648L|CADPS_ENST00000283269.9_Silent_p.L648L	p.L648L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	11	2293	-		Lung SC(41;0.0452)	648					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	c.1944G>C	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	6.469	0.454625	0.12283	.	.	ENSG00000163618	ENST00000478434	.	.	.	4.71	2.91	0.33838	.	.	.	.	.	T	0.55386	0.1917	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51244	-0.8730	4	.	.	.	.	6.9963	0.24784	0.0:0.7079:0.0:0.2921	.	.	.	.	S	79	.	.	W	-	2	0	CADPS	62510640	0.999000	0.42202	1.000000	0.80357	0.913000	0.54294	0.647000	0.24812	1.354000	0.45846	-0.237000	0.12165	TGG		0.473	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		40	70	0	0	0	1	0	40	70				
RAPGEF1	2889	broad.mit.edu	37	9	134503405	134503405	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr9:134503405A>G	ENST00000372189.3	-	9	1168	c.1045T>C	c.(1045-1047)Tcc>Ccc	p.S349P	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.S367P|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.S366P|RAPGEF1_ENST00000481260.1_5'UTR	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	349					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CTGCAGGGGGAGAGGCGGGGC	0.552																																						ENST00000372195.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1096-1098)Tcc>Ccc		Rap guanine nucleotide exchange factor (GEF) 1							31.0	35.0	33.0					9																	134503405		2140	4240	6380	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134503405A>G	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1045T>C	9.37:g.134503405A>G	ENSP00000361263:p.Ser349Pro					RAPGEF1_ENST00000372190.3_Missense_Mutation_p.S367P|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.S349P	p.S366P			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	9	1339	-		Myeloproliferative disorder(178;0.204)	349					Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.1096T>C	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636892	0.87760	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686	T;T;T	0.48201	0.82;0.82;0.82	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	M	0.64997	1.995	0.52501	D	0.999952	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.993;0.993;0.997	T	0.67768	-0.5585	10	0.56958	D	0.05	.	14.1451	0.65347	1.0:0.0:0.0:0.0	.	366;349;367	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	P	349;366;243;349;367;329;275;44;366	ENSP00000361269:S366P;ENSP00000361263:S349P;ENSP00000361264:S367P	ENSP00000266110:S349P	S	-	1	0	RAPGEF1	133493226	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.665000	0.91144	1.936000	0.56123	0.482000	0.46254	TCC		0.552	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		3	12	0	0	0	1	0	3	12				
KBTBD6	89890	broad.mit.edu	37	13	41705461	41705461	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr13:41705461T>A	ENST00000379485.1	-	1	1421	c.1187A>T	c.(1186-1188)tAt>tTt	p.Y396F	KBTBD6_ENST00000499385.2_Missense_Mutation_p.Y330F	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	396										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AGCAGCTAGATAGATGTCATG	0.517																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1186-1188)tAt>tTt		kelch repeat and BTB (POZ) domain containing 6							119.0	109.0	113.0					13																	41705461		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705461T>A	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1187A>T	13.37:g.41705461T>A	ENSP00000368799:p.Tyr396Phe					KBTBD6_ENST00000499385.2_Missense_Mutation_p.Y330F	p.Y396F	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1421	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	396					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1187A>T	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	t	6.486	0.457897	0.12342	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.73575	-0.76;-0.76	3.8	2.62	0.31277	Kelch-type beta propeller (1);	0.073479	0.56097	D	0.000034	T	0.63733	0.2536	L	0.49350	1.555	0.29537	N	0.852397	B;B	0.34255	0.404;0.445	B;B	0.34931	0.192;0.077	T	0.57148	-0.7861	10	0.30854	T	0.27	.	6.7322	0.23388	0.0:0.1222:0.0:0.8778	.	330;396	F5GZN7;Q86V97	.;KBTB6_HUMAN	F	396;330	ENSP00000368799:Y396F;ENSP00000444326:Y330F	ENSP00000368799:Y396F	Y	-	2	0	KBTBD6	40603461	1.000000	0.71417	0.788000	0.31933	0.203000	0.24098	1.830000	0.39131	0.649000	0.30751	0.379000	0.24179	TAT		0.517	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		78	101	0	0	0	1	0	78	101				
KCNA3	3738	broad.mit.edu	37	1	111216759	111216759	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:111216759C>T	ENST00000369769.2	-	1	896	c.673G>A	c.(673-675)Gag>Aag	p.E225K		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	225					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TCGGGGTACTCGAAGAGCAGC	0.677																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(673-675)Gag>Aag		potassium voltage-gated channel, shaker-related subfamily, member 3							31.0	39.0	37.0					1																	111216759		2202	4296	6498	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216759C>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.673G>A	1.37:g.111216759C>T	ENSP00000358784:p.Glu225Lys						p.E225K	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	896	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	225					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.673G>A	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737440	0.89482	.	.	ENSG00000177272	ENST00000369769	T	0.67865	-0.29	4.8	4.8	0.61643	.	0.000000	0.85682	U	0.000000	D	0.83101	0.5181	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87341	0.2331	10	0.87932	D	0	.	17.82	0.88648	0.0:1.0:0.0:0.0	.	225	P22001	KCNA3_HUMAN	K	225	ENSP00000358784:E225K	ENSP00000358784:E225K	E	-	1	0	KCNA3	111018282	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.704000	0.84595	2.209000	0.71365	0.561000	0.74099	GAG		0.677	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		44	98	0	0	0	1	0	44	98				
SMARCA2	6595	broad.mit.edu	37	9	2039776	2039776	+	Silent	SNP	A	A	G	rs376509101|rs13296987	byFrequency	TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr9:2039776A>G	ENST00000382203.1	+	4	875	c.666A>G	c.(664-666)caA>caG	p.Q222Q	RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000357248.2_Silent_p.Q222Q|SMARCA2_ENST00000382194.1_Silent_p.Q222Q|SMARCA2_ENST00000349721.2_Silent_p.Q222Q|SMARCA2_ENST00000491574.1_3'UTR			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	222	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcagcaacagcagcagc	0.637													A|||	80	0.0159744	0.0333	0.0029	5008	,	,		13171	0.001		0.004	False		,,,				2504	0.0297					ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(664-666)caA>caG		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							12.0	14.0	13.0					9																	2039776		2197	4275	6472	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039776A>G	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.666A>G	9.37:g.2039776A>G						SMARCA2_ENST00000349721.2_Silent_p.Q222Q|SMARCA2_ENST00000357248.2_Silent_p.Q222Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Silent_p.Q222Q	p.Q222Q			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	875	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	222			Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.666A>G	CCDS34977.1																																																																																				0.637	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		4	48	0	0	0	1	0	4	48				
CGN	57530	broad.mit.edu	37	1	151509267	151509267	+	Missense_Mutation	SNP	G	G	A	rs555924887		TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:151509267G>A	ENST00000271636.7	+	20	3501	c.3368G>A	c.(3367-3369)cGa>cAa	p.R1123Q		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1117					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAAATTGAGCGACTGGACGGC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		18627	0.001		0.0	False		,,,				2504	0.0					ENST00000271636.7																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(3367-3369)cGa>cAa		cingulin							146.0	144.0	145.0					1																	151509267		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151509267G>A	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.3368G>A	1.37:g.151509267G>A	ENSP00000271636:p.Arg1123Gln						p.R1123Q	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		20	3501	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1117					A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.3368G>A	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	36	5.704506	0.96812	.	.	ENSG00000143375	ENST00000271636	T	0.77358	-1.09	5.41	5.41	0.78517	Myosin tail (1);	0.054132	0.64402	N	0.000001	D	0.85583	0.5730	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.86078	0.1542	10	0.56958	D	0.05	-10.0739	17.7652	0.88475	0.0:0.0:1.0:0.0	.	1117	Q9P2M7	CING_HUMAN	Q	1123	ENSP00000271636:R1123Q	ENSP00000271636:R1123Q	R	+	2	0	CGN	149775891	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.654000	0.98509	2.541000	0.85698	0.655000	0.94253	CGA		0.552	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		40	47	0	0	0	1	0	40	47				
BAZ1B	9031	broad.mit.edu	37	7	72891995	72891995	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr7:72891995G>T	ENST00000339594.4	-	7	2134	c.1796C>A	c.(1795-1797)cCt>cAt	p.P599H	BAZ1B_ENST00000404251.1_Missense_Mutation_p.P599H	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	599					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAGCCCTTCAGGGGTATCCAC	0.458																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1795-1797)cCt>cAt		bromodomain adjacent to zinc finger domain, 1B							115.0	125.0	121.0					7																	72891995		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72891995G>T	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1796C>A	7.37:g.72891995G>T	ENSP00000342434:p.Pro599His					BAZ1B_ENST00000404251.1_Missense_Mutation_p.P599H	p.P599H	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			7	2134	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	599					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.1796C>A	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955094	0.73902	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.66638	-0.22;-0.22	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.79423	0.4443	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	P	0.60789	0.879	T	0.79072	-0.1953	10	0.52906	T	0.07	-17.4923	19.0882	0.93215	0.0:0.0:1.0:0.0	.	599	Q9UIG0	BAZ1B_HUMAN	H	599	ENSP00000342434:P599H;ENSP00000385442:P599H	ENSP00000342434:P599H	P	-	2	0	BAZ1B	72529931	1.000000	0.71417	0.969000	0.41365	0.974000	0.67602	9.161000	0.94739	2.760000	0.94817	0.655000	0.94253	CCT		0.458	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		6	161	1	0	0.00198382	1	0.00198382	6	161				
SORCS2	57537	broad.mit.edu	37	4	7725571	7725571	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr4:7725571G>A	ENST00000507866.2	+	19	2681	c.2572G>A	c.(2572-2574)Gca>Aca	p.A858T	SORCS2_ENST00000329016.9_Missense_Mutation_p.A686T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	858	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AGAGAACACGGCAGGCCACGA	0.582																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2572-2574)Gca>Aca		sortilin-related VPS10 domain containing receptor 2							56.0	58.0	57.0					4																	7725571		2037	4184	6221	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7725571G>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2572G>A	4.37:g.7725571G>A	ENSP00000422185:p.Ala858Thr					SORCS2_ENST00000329016.9_Missense_Mutation_p.A686T	p.A858T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			19	2681	+			858			PKD.		Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.2572G>A	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	9.853	1.194170	0.22037	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.62788	-0.0;-0.0	2.82	1.95	0.26073	PKD/Chitinase domain (1);PKD domain (4);	0.077820	0.50627	U	0.000112	T	0.53722	0.1814	L	0.57536	1.79	0.35617	D	0.809084	B;P	0.37423	0.08;0.594	B;B	0.33690	0.068;0.168	T	0.62393	-0.6864	10	0.59425	D	0.04	.	10.652	0.45653	0.0:0.0:0.8064:0.1936	.	686;858	B5MED8;Q96PQ0	.;SORC2_HUMAN	T	858;686	ENSP00000422185:A858T;ENSP00000329124:A686T	ENSP00000329124:A686T	A	+	1	0	SORCS2	7776471	1.000000	0.71417	0.009000	0.14445	0.001000	0.01503	6.945000	0.75947	0.364000	0.24374	0.467000	0.42956	GCA		0.582	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		33	60	0	0	0	1	0	33	60				
CD300LB	124599	broad.mit.edu	37	17	72522000	72522000	+	Missense_Mutation	SNP	G	G	A	rs374822987		TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr17:72522000G>A	ENST00000392621.1	-	2	372	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CD300LB_ENST00000314401.3_Missense_Mutation_p.T123M	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	86					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CACAGTGAACGTGCGGTCTTT	0.522																																						ENST00000392621.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						c.(367-369)aCg>aTg		CD300 molecule-like family member b		G	MET/THR	0,4406		0,0,2203	256.0	226.0	236.0		368	-5.7	0.0	17		236	1,8599	1.2+/-3.3	0,1,4299	no	missense	CD300LB	NM_174892.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	123/239	72522000	1,13005	2203	4300	6503	SO:0001583	missense	124599					integral to membrane|plasma membrane	receptor activity	g.chr17:72522000G>A	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"""Immunoglobulin superfamily / V-set domain containing"""	30811	protein-coding gene	gene with protein product	"""triggering receptor expressed on myeloid cells 5"""	610705	"""CD300 antigen like family member B"""			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.368C>T	17.37:g.72522000G>A	ENSP00000376397:p.Thr123Met					CD300LB_ENST00000314401.3_Missense_Mutation_p.T123M	p.T123M	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN			2	372	-			86					Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	c.368C>T	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	G	6.217	0.408131	0.11754	0.0	1.16E-4	ENSG00000178789	ENST00000392621;ENST00000314401	T	0.66995	-0.24	5.17	-5.66	0.02451	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.115730	0.02066	N	0.051141	T	0.65863	0.2732	M	0.87682	2.9	0.09310	N	1	B;B	0.33000	0.179;0.393	B;B	0.25140	0.058;0.058	T	0.57745	-0.7758	10	0.48119	T	0.1	-3.7919	8.0694	0.30680	0.5423:0.1097:0.348:0.0	.	123;86	B4DQ71;A8K4G0	.;CLM7_HUMAN	M	86;123	ENSP00000317337:T123M	ENSP00000317337:T123M	T	-	2	0	CD300LB	70033595	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.255000	0.02872	-1.007000	0.03408	-2.376000	0.00234	ACG		0.522	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		10	185	0	0	0	1	0	10	185				
CFH	3075	broad.mit.edu	37	1	196711060	196711060	+	Silent	SNP	G	G	A			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:196711060G>A	ENST00000367429.4	+	19	3252	c.3012G>A	c.(3010-3012)aaG>aaA	p.K1004K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1004	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGGGAGAGAAGAAGGATGTGT	0.368																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(3010-3012)aaG>aaA		complement factor H							119.0	111.0	113.0					1																	196711060		2203	4300	6503	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196711060G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3012G>A	1.37:g.196711060G>A							p.K1004K	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			19	3252	+			1004			Sushi 17.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	c.3012G>A	CCDS1385.1																																																																																				0.368	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		5	90	0	0	0	1	0	5	90				
FRG1	2483	broad.mit.edu	37	4	190878646	190878646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr4:190878646G>T	ENST00000226798.4	+	6	748	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	176					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E176*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGGAGAAGAAGAAATGATCAA	0.373																																						ENST00000226798.4																			1	Substitution - Nonsense(1)	p.E176*(1)	central_nervous_system(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(526-528)Gaa>Taa		FSHD region gene 1							48.0	44.0	45.0					4																	190878646		2179	4274	6453	SO:0001587	stop_gained	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878646G>T	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.526G>T	4.37:g.190878646G>T	ENSP00000226798:p.Glu176*					FRG1_ENST00000514482.1_3'UTR	p.E176*	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	748	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	176					A8K775	Nonsense_Mutation	SNP	ENST00000226798.4	37	c.526G>T	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	34	5.401103	0.96030	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	.	.	.	4.29	3.44	0.39384	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-3.1825	10.4286	0.44393	0.0989:0.0:0.9011:0.0	.	.	.	.	X	176;48;113	.	ENSP00000226798:E176X	E	+	1	0	FRG1	191115640	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.376000	0.73141	0.937000	0.37394	0.454000	0.30748	GAA		0.373	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		5	49	1	0	0.000442599	1	0.000472106	5	49				
CDH12	1010	broad.mit.edu	37	5	21854872	21854872	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr5:21854872G>C	ENST00000382254.1	-	7	1640	c.554C>G	c.(553-555)aCa>aGa	p.T185R	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000504376.2_Missense_Mutation_p.T185R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	185	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATCTGCATCTGTGGCCTTGAC	0.413										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(553-555)aCa>aGa		cadherin 12, type 2 (N-cadherin 2)							113.0	105.0	108.0					5																	21854872		2203	4299	6502	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21854872G>C	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.554C>G	5.37:g.21854872G>C	ENSP00000371689:p.Thr185Arg	HNSCC(59;0.17)				CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.T185R|CDH12_ENST00000522262.1_Intron	p.T185R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			7	1640	-			185			Cadherin 2.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.554C>G	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383877	0.82792	.	.	ENSG00000154162	ENST00000504376;ENST00000382254	T;T	0.55930	0.49;0.49	5.4	4.51	0.55191	Cadherin (5);Cadherin-like (1);	0.046898	0.85682	D	0.000000	T	0.65502	0.2697	M	0.71920	2.185	0.80722	D	1	P	0.40211	0.707	P	0.52514	0.701	T	0.69045	-0.5249	10	0.87932	D	0	.	13.8793	0.63674	0.0736:0.0:0.9264:0.0	.	185	P55289	CAD12_HUMAN	R	185	ENSP00000423577:T185R;ENSP00000371689:T185R	ENSP00000371689:T185R	T	-	2	0	CDH12	21890629	1.000000	0.71417	0.964000	0.40570	0.982000	0.71751	7.905000	0.87416	2.684000	0.91462	0.650000	0.86243	ACA		0.413	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		21	26	0	0	0	1	0	21	26				
TFDP3	51270	broad.mit.edu	37	X	132351392	132351392	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chrX:132351392C>T	ENST00000310125.4	-	1	984	c.896G>A	c.(895-897)gGc>gAc	p.G299D		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	299	DCB2. {ECO:0000250}.|Involved in negatively regulating E2F activity.				cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					AAAAGTCATGCCCATCCACAT	0.478																																						ENST00000310125.4																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19						c.(895-897)gGc>gAc		transcription factor Dp family, member 3							80.0	81.0	80.0					X																	132351392		2201	4300	6501	SO:0001583	missense	51270					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351392C>T	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.896G>A	X.37:g.132351392C>T	ENSP00000385461:p.Gly299Asp						p.G299D	NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN			1	984	-	Acute lymphoblastic leukemia(192;0.000127)		299			DCB2 (By similarity).|Involved in negatively regulating E2F activity.		Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	c.896G>A	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422553	0.43020	.	.	ENSG00000183434	ENST00000310125	T	0.29142	1.58	0.217	0.217	0.15264	Transcription factor DP, C-terminal (1);	.	.	.	.	T	0.45617	0.1351	M	0.72353	2.195	0.80722	D	1	D	0.71674	0.998	D	0.65987	0.94	T	0.42865	-0.9426	9	0.87932	D	0	.	6.1626	0.20372	0.0:0.9996:0.0:4.0E-4	.	299	Q5H9I0	TFDP3_HUMAN	D	299	ENSP00000385461:G299D	ENSP00000385461:G299D	G	-	2	0	TFDP3	132179058	1.000000	0.71417	0.057000	0.19452	0.058000	0.15608	4.937000	0.63513	0.273000	0.22049	0.277000	0.19347	GGC		0.478	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		4	53	0	0	0	1	0	4	53				
EPHA3	2042	broad.mit.edu	37	3	89528621	89528621	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr3:89528621C>T	ENST00000336596.2	+	17	3146	c.2921C>T	c.(2920-2922)aCg>aTg	p.T974M	EPHA3_ENST00000494014.1_3'UTR	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	974	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCTCTAGAAACGCAATCAAAG	0.468										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(2920-2922)aCg>aTg		EPH receptor A3							94.0	82.0	86.0					3																	89528621		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89528621C>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2921C>T	3.37:g.89528621C>T	ENSP00000337451:p.Thr974Met	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_3'UTR	p.T974M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	17	3146	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	974			SAM.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2921C>T	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678678	0.47886	.	.	ENSG00000044524	ENST00000336596	T	0.06768	3.26	5.72	5.72	0.89469	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);	0.049227	0.85682	D	0.000000	T	0.08846	0.0219	L	0.42245	1.32	0.80722	D	1	B	0.23735	0.09	B	0.14023	0.01	T	0.20706	-1.0267	9	.	.	.	.	14.4171	0.67158	0.0:0.9296:0.0:0.0704	.	974	P29320	EPHA3_HUMAN	M	974	ENSP00000337451:T974M	.	T	+	2	0	EPHA3	89611311	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	4.626000	0.61269	2.857000	0.98124	0.650000	0.86243	ACG		0.468	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		7	30	0	0	0	1	0	7	30				
WWOX	51741	broad.mit.edu	37	16	78466400	78466400	+	Silent	SNP	C	C	T	rs62034095	byFrequency	TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr16:78466400C>T	ENST00000566780.1	+	8	1173	c.807C>T	c.(805-807)aaC>aaT	p.N269N	WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Silent_p.N269N|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	269	Interaction with MAPT. {ECO:0000250}.|Mediates targeting to the mitochondria. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CAGATATTAACGACTCCTTGG	0.398																																						ENST00000566780.1																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7						c.(805-807)aaC>aaT		WW domain containing oxidoreductase		C		2,3756		0,2,1877	109.0	111.0	111.0		807	-11.9	0.1	16	dbSNP_129	111	16,8186		0,16,4085	no	coding-synonymous	WWOX	NM_016373.2		0,18,5962	TT,TC,CC		0.1951,0.0532,0.1505		269/415	78466400	18,11942	1879	4101	5980	SO:0001819	synonymous_variant	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78466400C>T	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.807C>T	16.37:g.78466400C>T						WWOX_ENST00000408984.3_Silent_p.N269N|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000402655.2_Intron	p.N269N	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	8	1173	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	269			Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Silent	SNP	ENST00000566780.1	37	c.807C>T	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.570998	0.00895	5.32E-4	0.001951	ENSG00000186153	ENST00000299644	.	.	.	5.93	-11.9	0.00025	.	.	.	.	.	T	0.64271	0.2583	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80928	-0.1163	5	0.66056	D	0.02	.	13.1839	0.59670	0.1052:0.195:0.0:0.6998	rs62034095	.	.	.	M	112	.	ENSP00000299644:T112M	T	+	2	0	WWOX	77023901	0.002000	0.14202	0.083000	0.20561	0.023000	0.10783	-1.504000	0.02275	-2.371000	0.00602	-2.048000	0.00412	ACG		0.398	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			29	58	0	0	0	1	0	29	58				
GOLGA6L3	100133220	broad.mit.edu	37	15	83014106	83014106	+	Silent	SNP	T	T	C	rs62009901		TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr15:83014106T>C	ENST00000557886.1	-	6	576	c.477A>G	c.(475-477)gtA>gtG	p.V159V															p.V159V(12)		endometrium(6)|kidney(5)|prostate(1)	12						GTAGCTGCTCTACCTTAGATG	0.498																																						ENST00000557886.1																			12	Substitution - coding silent(12)	p.V159V(12)	kidney(6)|endometrium(4)|prostate(2)	endometrium(6)|kidney(5)|prostate(1)	12						c.(475-477)gtA>gtG																																						SO:0001819	synonymous_variant	0							g.chr15:83014106T>C																												ENST00000557886.1:c.477A>G	15.37:g.83014106T>C							p.V159V							6	576	-									Silent	SNP	ENST00000557886.1	37	c.477A>G																																																																																					0.498	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419277.1			3	6	0	0	0	1	0	3	6				
ZSCAN10	84891	broad.mit.edu	37	16	3139130	3139130	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr16:3139130G>A	ENST00000252463.2	-	5	2227	c.2140C>T	c.(2140-2142)Cgc>Tgc	p.R714C	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R632C|RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R375C|RNU1-22P_ENST00000363334.1_RNA	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	714					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CGCAGGTGGCGCAGCAGGTGG	0.711																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(2140-2142)Cgc>Tgc		zinc finger and SCAN domain containing 10							12.0	13.0	13.0					16																	3139130		2152	4248	6400	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139130G>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.2140C>T	16.37:g.3139130G>A	ENSP00000252463:p.Arg714Cys					ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R375C|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R632C	p.R714C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	2227	-			714					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.2140C>T	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389822	0.61956	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.56275	0.47	4.95	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000191	T	0.71576	0.3356	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.98	T	0.74548	-0.3629	10	0.54805	T	0.06	-50.5	11.237	0.48946	0.0:0.0:0.8045:0.1955	.	375;647;714	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	C	647;714	ENSP00000252463:R714C	ENSP00000252463:R714C	R	-	1	0	ZSCAN10	3079131	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.000000	0.12993	2.291000	0.77112	0.561000	0.74099	CGC		0.711	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		5	13	0	0	0	1	0	5	13				
ZSCAN2	54993	broad.mit.edu	37	15	85164527	85164527	+	Silent	SNP	C	C	T	rs199585522	byFrequency	TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr15:85164527C>T	ENST00000448803.2	+	3	1393	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C	ZSCAN2_ENST00000327179.6_Silent_p.C366C|ZSCAN2_ENST00000358472.3_Silent_p.C217C|ZSCAN2_ENST00000546148.1_Silent_p.C367C|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000538076.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	367					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C367C(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GTAAAGAATGCGGCGAAAGCT	0.502													C|||	13	0.00259585	0.0	0.0	5008	,	,		18127	0.0099		0.0	False		,,,				2504	0.0031					ENST00000448803.2																			1	Substitution - coding silent(1)	p.C367C(1)	kidney(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19						c.(1099-1101)tgC>tgT		zinc finger and SCAN domain containing 2		C		2,4404	4.2+/-10.8	0,2,2201	133.0	138.0	136.0		1101	-3.2	0.8	15		136	3,8595	3.0+/-9.4	0,3,4296	no	coding-synonymous	ZSCAN2	NM_181877.3		0,5,6497	TT,TC,CC		0.0349,0.0454,0.0384		367/615	85164527	5,12999	2203	4299	6502	SO:0001819	synonymous_variant	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85164527C>T	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1101C>T	15.37:g.85164527C>T						ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000546148.1_Silent_p.C367C|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000327179.6_Silent_p.C366C|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Silent_p.C217C	p.C367C	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	1393	+			367					A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	ENST00000448803.2	37	c.1101C>T	CCDS10329.2																																																																																				0.502	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		4	255	0	0	0	1	0	4	255				
POU4F1	5457	broad.mit.edu	37	13	79176484	79176486	+	In_Frame_Del	DEL	TGG	TGG	-	rs371388366		TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr13:79176484_79176486delTGG	ENST00000377208.5	-	2	535_537	c.324_326delCCA	c.(322-327)caccag>cag	p.H108del	RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RP11-52L5.6_ENST00000607269.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	108	Poly-His.				axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.H108delH(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TTCGAGCGCCtggtggtggtggt	0.729																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	ENST00000377208.5																			1	Deletion - In frame(1)	p.H108delH(1)	central_nervous_system(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16						c.(322-327)cag>ca		POU class 4 homeobox 1																																				SO:0001651	inframe_deletion	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79176484_79176486delTGG	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.324_326delCCA	13.37:g.79176493_79176495delTGG	ENSP00000366413:p.His108del					RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607220.1_RNA	p.HQ108del	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	535_537	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	108			Poly-His.		Q14986|Q15318|Q5T227	In_Frame_Del	DEL	ENST00000377208.5	37	c.324_326delCCA	CCDS31996.1																																																																																				0.729	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			2	4						2	4	---	---	---	---
CLUH	23277	broad.mit.edu	37	17	2606635	2606635	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr17:2606635delC	ENST00000570628.2	-	3	443	c.338delG	c.(337-339)ggcfs	p.G113fs	CLUH_ENST00000435359.1_Frame_Shift_Del_p.G113fs|CLUH_ENST00000538975.1_Frame_Shift_Del_p.G113fs			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	113					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CAGCACAGAGCCCTCCTGCAG	0.667																																						ENST00000570628.1																			0											c.(337-339)gcfs		clustered mitochondria (cluA/CLU1) homolog							30.0	34.0	33.0					17																	2606635		2191	4282	6473	SO:0001589	frameshift_variant	23277							g.chr17:2606635delC	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.338delG	17.37:g.2606635delC	ENSP00000458986:p.Gly113fs					CLUH_ENST00000575014.1_Frame_Shift_Del_p.G45fs|CLUH_ENST00000538975.1_Frame_Shift_Del_p.G113fs|CLUH_ENST00000435359.1_Frame_Shift_Del_p.G113fs	p.G113fs							3	443	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Frame_Shift_Del	DEL	ENST00000570628.2	37	c.338delG	CCDS45572.1																																																																																				0.667	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		7	11						7	11	---	---	---	---
LGALS9B	284194	broad.mit.edu	37	17	20370782	20370783	+	Start_Codon_Ins	INS	-	-	TC	rs10687699|rs554373055|rs372509656	byFrequency	TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr17:20370782_20370783insTC	ENST00000423676.3	-	0	64_65				LGALS9B_ENST00000324290.5_Start_Codon_Ins			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B								carbohydrate binding (GO:0030246)	p.M1fs*12(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GCTGAAGGCCATCTCCACCGCC	0.584														831	0.165935	0.2504	0.1326	5008	,	,		9041	0.127		0.1481	False		,,,				2504	0.1339					ENST00000423676.3																			1	Insertion - Frameshift(1)	p.M1fs*12(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10								lectin, galactoside-binding, soluble, 9B				372,1470		152,68,701						2.5	0.7		dbSNP_130	3	715,5069		234,247,2411	no	frameshift	LGALS9B	NM_001042685.1		386,315,3112	A1A1,A1R,RR		12.3617,20.1954,14.2539				1087,6539				SO:0001582	initiator_codon_variant	284194						sugar binding	g.chr17:20370782_20370783insTC		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"""Lectins, galactoside-binding"""	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.0_1dupGA	17.37:g.20370785_20370786dupTC						LGALS9B_ENST00000324290.5_Start_Codon_Ins				Q3B8N2	LEG9B_HUMAN			0	64_65	-								A6NLF8|A8K2J8	Translation_Start_Site	INS	ENST00000423676.3	37																																																																																						0.584	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	NM_001042685		3	4						3	4	---	---	---	---
