#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
EPRS	2058	broad.mit.edu	37	1	220198598	220198598	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:220198598T>A	ENST00000366923.3	-	7	895	c.626A>T	c.(625-627)tAc>tTc	p.Y209F		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	209	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	AATGTGTAAGTAACTAAAACA	0.333																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(625-627)tAc>tTc		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						89.0	85.0	86.0					1																	220198598		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220198598T>A	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.626A>T	1.37:g.220198598T>A	ENSP00000355890:p.Tyr209Phe		Somatic					p.Y209F	NM_004446.2	NP_004437.2	WXS	Illumina GAIIx	Phase_I	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	7	895	-			209			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.626A>T	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.154990	0.78114	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.23950	1.88	5.63	5.63	0.86233	Aminoacyl-tRNA synthetase, class I, conserved site (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.109696	0.64402	D	0.000004	T	0.45418	0.1341	L	0.48877	1.53	0.80722	D	1	P;D;D	0.89917	0.848;0.985;1.0	P;D;D	0.91635	0.536;0.933;0.999	T	0.30297	-0.9983	10	0.51188	T	0.08	-16.1356	16.1413	0.81528	0.0:0.0:0.0:1.0	.	209;209;209	F5H7I7;Q3KQZ8;P07814	.;.;SYEP_HUMAN	F	209	ENSP00000355890:Y209F	ENSP00000355890:Y209F	Y	-	2	0	EPRS	218265221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.278000	0.78587	2.270000	0.75569	0.482000	0.46254	TAC		0.333	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		3	34	0	0	0	1	0	3	34				
FER1L6	654463	broad.mit.edu	37	8	125072866	125072866	+	Silent	SNP	C	C	T	rs369624500		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:125072866C>T	ENST00000522917.1	+	24	3269	c.3063C>T	c.(3061-3063)tgC>tgT	p.C1021C	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Silent_p.C1021C	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1021						integral component of membrane (GO:0016021)		p.C1021C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCATTGAGTGCGGAGGACAAG	0.547																																						ENST00000522917.1																			1	Substitution - coding silent(1)	p.C1021C(1)	kidney(1)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(3061-3063)tgC>tgT		fer-1-like 6 (C. elegans)							144.0	126.0	132.0					8																	125072866		2203	4300	6503	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125072866C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3063C>T	8.37:g.125072866C>T			Somatic				FER1L6_ENST00000399018.1_Silent_p.C1021C|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA	p.C1021C	NM_001039112.2	NP_001034201.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		24	3269	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1021						Silent	SNP	ENST00000522917.1	37	c.3063C>T	CCDS43767.1																																																																																				0.547	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		85	135	0	0	0	1	0	85	135				
VPS53	55275	broad.mit.edu	37	17	456619	456619	+	Splice_Site	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:456619C>T	ENST00000571805.1	-	16	1924		c.e16+1		VPS53_ENST00000291074.5_Splice_Site|VPS53_ENST00000401468.3_Splice_Site|RP5-1029F21.2_ENST00000574008.1_RNA|VPS53_ENST00000437048.2_Splice_Site|VPS53_ENST00000446250.2_Splice_Site|VPS53_ENST00000576149.1_Splice_Site|VPS53_ENST00000574029.1_Intron			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)						protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		AGGGTACATACGTGCTGAACG	0.493																																						ENST00000437048.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.e16+1		vacuolar protein sorting 53 homolog (S. cerevisiae)							280.0	196.0	224.0					17																	456619		2203	4300	6503	SO:0001630	splice_region_variant	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:456619C>T		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1787+1G>A	17.37:g.456619C>T			Somatic				RP5-1029F21.2_ENST00000574008.1_RNA|VPS53_ENST00000446250.2_Splice_Site|VPS53_ENST00000576149.1_Splice_Site|VPS53_ENST00000401468.3_Splice_Site|VPS53_ENST00000291074.5_Splice_Site|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000571805.1_Splice_Site		NM_001128159.2	NP_001121631.1	WXS	Illumina GAIIx	Phase_I	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	16	1934	-								A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Splice_Site	SNP	ENST00000571805.1	37			.	.	.	.	.	.	.	.	.	.	C	17.34	3.365085	0.61513	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000401468	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.229	0.86979	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS53	403369	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	7.388000	0.79795	2.817000	0.96982	0.643000	0.83706	.		0.493	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289	Intron	16	164	0	0	0	1	0	16	164				
USP26	83844	broad.mit.edu	37	X	132161721	132161721	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:132161721C>A	ENST00000511190.1	-	6	997	c.528G>T	c.(526-528)caG>caT	p.Q176H	USP26_ENST00000406273.1_Missense_Mutation_p.Q176H|USP26_ENST00000370832.1_Missense_Mutation_p.Q176H	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	176					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.Q176H(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCTTCTTGTGCTGATTTTCTG	0.383																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			1	Substitution - Missense(1)	p.Q176H(1)	kidney(1)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(526-528)caG>caT		ubiquitin specific peptidase 26							102.0	85.0	91.0					X																	132161721		2203	4299	6502	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132161721C>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.528G>T	X.37:g.132161721C>A	ENSP00000423390:p.Gln176His		Somatic				USP26_ENST00000406273.1_Missense_Mutation_p.Q176H|USP26_ENST00000370832.1_Missense_Mutation_p.Q176H	p.Q176H	NM_031907.1	NP_114113.1	WXS	Illumina GAIIx	Phase_I	Q9BXU7	UBP26_HUMAN			6	997	-	Acute lymphoblastic leukemia(192;0.000127)		176					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.528G>T	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.611224	0.28712	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.55930	0.49;0.49;0.49	3.79	-5.31	0.02730	.	1.944920	0.03599	N	0.233167	T	0.57755	0.2075	L	0.34521	1.04	0.09310	N	1	D	0.61697	0.99	P	0.61800	0.894	T	0.62248	-0.6894	10	0.72032	D	0.01	4.371	11.7888	0.52057	0.0:0.6662:0.0:0.3338	.	176	Q9BXU7	UBP26_HUMAN	H	176	ENSP00000359869:Q176H;ENSP00000423390:Q176H;ENSP00000384360:Q176H	ENSP00000359869:Q176H	Q	-	3	2	USP26	131989387	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.650000	0.00858	-1.340000	0.02227	-0.505000	0.04504	CAG		0.383	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		76	38	1	0	3.61922e-38	1	3.86162e-38	76	38				
HKR1	284459	broad.mit.edu	37	19	37854260	37854260	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:37854260G>A	ENST00000324411.4	+	6	1832	c.1563G>A	c.(1561-1563)ggG>ggA	p.G521G	HKR1_ENST00000589392.1_Silent_p.G503G|HKR1_ENST00000544914.1_Silent_p.G248G|HKR1_ENST00000392153.3_Silent_p.G502G|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000591471.1_Silent_p.G248G|HKR1_ENST00000541583.2_Silent_p.G460G	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	521					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACACTCAGGGGAGAAGCCAT	0.512																																						ENST00000591471.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(742-744)ggG>ggA		HKR1, GLI-Kruppel zinc finger family member							70.0	66.0	67.0					19																	37854260		2203	4300	6503	SO:0001819	synonymous_variant	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37854260G>A	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1563G>A	19.37:g.37854260G>A			Somatic				HKR1_ENST00000589392.1_Silent_p.G503G|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000324411.4_Silent_p.G521G|HKR1_ENST00000544914.1_Silent_p.G248G|HKR1_ENST00000541583.2_Silent_p.G460G|HKR1_ENST00000392153.3_Silent_p.G502G	p.G248G			WXS	Illumina GAIIx	Phase_I	P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		9	2385	+			521					A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Silent	SNP	ENST00000324411.4	37	c.744G>A	CCDS12502.1																																																																																				0.512	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		5	150	0	0	0	1	0	5	150				
WFDC8	90199	broad.mit.edu	37	20	44187563	44187563	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:44187563C>T	ENST00000357199.4	-	3	283	c.205G>A	c.(205-207)Gat>Aat	p.D69N	WFDC8_ENST00000289953.2_Missense_Mutation_p.D69N|RNA5SP485_ENST00000365053.1_RNA	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	69	WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CAGTCAAAATCTGTGTTACAT	0.468																																						ENST00000357199.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(205-207)Gat>Aat		WAP four-disulfide core domain 8							198.0	177.0	184.0					20																	44187563		2203	4300	6503	SO:0001583	missense	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44187563C>T	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.205G>A	20.37:g.44187563C>T	ENSP00000361735:p.Asp69Asn		Somatic				WFDC8_ENST00000289953.2_Missense_Mutation_p.D69N	p.D69N	NM_181510.2	NP_852611.2	WXS	Illumina GAIIx	Phase_I	Q8IUA0	WFDC8_HUMAN			3	283	-		Myeloproliferative disorder(115;0.0122)	69			WAP 1.		E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	ENST00000357199.4	37	c.205G>A	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542323	0.65198	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	D;D	0.90955	-2.76;-2.76	4.75	4.75	0.60458	Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	0.000000	0.51477	D	0.000093	D	0.95730	0.8611	M	0.91140	3.18	0.20074	N	0.999938	D	0.89917	1.0	D	0.97110	1.0	D	0.89894	0.4039	10	0.35671	T	0.21	.	13.4436	0.61127	0.0:1.0:0.0:0.0	.	69	Q8IUA0	WFDC8_HUMAN	N	69	ENSP00000361735:D69N;ENSP00000289953:D69N	ENSP00000289953:D69N	D	-	1	0	WFDC8	43620977	0.889000	0.30405	0.098000	0.21074	0.003000	0.03518	3.207000	0.51106	2.629000	0.89072	0.655000	0.94253	GAT		0.468	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			6	514	0	0	0	1	0	6	514				
DCDC2	51473	broad.mit.edu	37	6	24178707	24178707	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:24178707C>A	ENST00000378454.3	-	9	1478	c.1177G>T	c.(1177-1179)Gat>Tat	p.D393Y	DCDC2_ENST00000378450.3_Missense_Mutation_p.D146Y	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	393					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TCACTGTGATCCAGAATCTCC	0.512																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1177-1179)Gat>Tat		doublecortin domain containing 2							217.0	184.0	195.0					6																	24178707		2203	4300	6503	SO:0001583	missense	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24178707C>A	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.1177G>T	6.37:g.24178707C>A	ENSP00000367715:p.Asp393Tyr		Somatic				DCDC2_ENST00000378450.3_Missense_Mutation_p.D146Y	p.D393Y	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	WXS	Illumina GAIIx	Phase_I	Q9UHG0	DCDC2_HUMAN			9	1478	-		Ovarian(999;0.101)	393					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	c.1177G>T	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	c	15.74	2.924096	0.52653	.	.	ENSG00000146038	ENST00000378454;ENST00000378450	T;T	0.53640	4.17;0.61	5.25	4.38	0.52667	.	0.692740	0.13760	N	0.364672	T	0.27731	0.0682	L	0.29908	0.895	0.09310	N	1	B;P	0.35908	0.132;0.527	B;B	0.43386	0.118;0.418	T	0.25537	-1.0129	10	0.59425	D	0.04	-0.5045	12.2453	0.54566	0.0:0.8288:0.1712:0.0	.	393;146	Q9UHG0;Q9UHG0-2	DCDC2_HUMAN;.	Y	393;146	ENSP00000367715:D393Y;ENSP00000367711:D146Y	ENSP00000367711:D146Y	D	-	1	0	DCDC2	24286686	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	1.328000	0.33758	1.316000	0.45131	0.651000	0.88453	GAT		0.512	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		24	139	1	0	1.33986e-20	1	1.42631e-20	24	139				
FMO1	2326	broad.mit.edu	37	1	171251249	171251249	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:171251249G>A	ENST00000354841.4	+	6	1091	c.960G>A	c.(958-960)gaG>gaA	p.E320E	FMO1_ENST00000402921.2_Silent_p.E257E|FMO1_ENST00000367750.3_Silent_p.E320E|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	320					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CAAAGGAAGAGCCTATTGACA	0.433																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(958-960)gaG>gaA		flavin containing monooxygenase 1							154.0	140.0	145.0					1																	171251249		2203	4300	6503	SO:0001819	synonymous_variant	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171251249G>A	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.960G>A	1.37:g.171251249G>A			Somatic				FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Silent_p.E257E|FMO1_ENST00000367750.3_Silent_p.E320E	p.E320E			WXS	Illumina GAIIx	Phase_I	Q01740	FMO1_HUMAN			6	1091	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		320					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Silent	SNP	ENST00000354841.4	37	c.960G>A	CCDS1294.1																																																																																				0.433	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		4	385	0	0	0	1	0	4	385				
PNMAL1	55228	broad.mit.edu	37	19	46973225	46973225	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:46973225C>T	ENST00000313683.10	-	2	1373	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	PNMAL1_ENST00000438932.2_Silent_p.K356K|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	356										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GAGCGGGGTTCTTGGCAGACA	0.587																																						ENST00000313683.10																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1066-1068)aaG>aaA		paraneoplastic Ma antigen family-like 1							134.0	145.0	141.0					19																	46973225		2203	4300	6503	SO:0001819	synonymous_variant	55228							g.chr19:46973225C>T	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.1068G>A	19.37:g.46973225C>T			Somatic				PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Silent_p.K356K	p.K356K	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	WXS	Illumina GAIIx	Phase_I	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	1373	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	356					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Silent	SNP	ENST00000313683.10	37	c.1068G>A	CCDS33059.1																																																																																				0.587	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		7	753	0	0	0	1	0	7	753				
ALG10B	144245	broad.mit.edu	37	12	38714227	38714227	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:38714227G>A	ENST00000308742.4	+	3	950	c.634G>A	c.(634-636)Gag>Aag	p.E212K	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	212					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)	p.E212Q(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTGGAAAACTGAGCTACAAAA	0.388																																						ENST00000308742.4																			1	Substitution - Missense(1)	p.E212Q(1)	lung(1)	breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(634-636)Gag>Aag		ALG10B, alpha-1,2-glucosyltransferase							127.0	130.0	129.0					12																	38714227		2203	4299	6502	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714227G>A	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.634G>A	12.37:g.38714227G>A	ENSP00000310120:p.Glu212Lys		Somatic				ALG10B_ENST00000551464.1_Intron	p.E212K	NM_001013620.3	NP_001013642.1	WXS	Illumina GAIIx	Phase_I	Q5I7T1	AG10B_HUMAN			3	950	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	212					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.634G>A	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	N	13.66	2.302650	0.40795	.	.	ENSG00000175548	ENST00000308742	T	0.54866	0.55	3.24	3.24	0.37175	.	0.206155	0.49916	D	0.000121	T	0.33702	0.0872	L	0.36672	1.1	0.80722	D	1	P	0.36633	0.562	B	0.34180	0.177	T	0.11690	-1.0577	10	0.07325	T	0.83	.	8.6417	0.33981	0.0:0.2359:0.7641:0.0	.	212	Q5I7T1	AG10B_HUMAN	K	212	ENSP00000310120:E212K	ENSP00000310120:E212K	E	+	1	0	ALG10B	37000494	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	4.753000	0.62183	2.115000	0.64714	0.549000	0.68633	GAG		0.388	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		9	219	0	0	0	1	0	9	219				
PPFIA2	8499	broad.mit.edu	37	12	81675169	81675169	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:81675169C>T	ENST00000549396.1	-	27	3239	c.3079G>A	c.(3079-3081)Gaa>Aaa	p.E1027K	RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E1021K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E1012K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E922K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E926K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E1006K|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E213K|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E563K|PPFIA2_ENST00000550584.2_Missense_Mutation_p.E1027K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E1012K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E874K	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1027	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.E1027K(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGAAGCCATTCATTTCCAATC	0.393																																						ENST00000550584.2																			1	Substitution - Missense(1)	p.E1027K(1)	kidney(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(3079-3081)Gaa>Aaa		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							121.0	116.0	117.0					12																	81675169		1846	4118	5964	SO:0001583	missense	8499							g.chr12:81675169C>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3079G>A	12.37:g.81675169C>T	ENSP00000450337:p.Glu1027Lys		Somatic				RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E1012K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E1021K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E1012K|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E563K|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E213K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E922K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E926K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E1027K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E1006K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E874K	p.E1027K	NM_001220473.1	NP_001207402.1	WXS	Illumina GAIIx	Phase_I	B7Z663	B7Z663_HUMAN			26	3374	-			926					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.3079G>A	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.033880|4.033880	0.75504|0.75504	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000550018	T;T;T;T;T;T;T;T;T|.	0.56611|.	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45|.	5.61|5.61	4.72|4.72	0.59763|0.59763	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71771|0.71771	0.3379|0.3379	M|M	0.68952|0.68952	2.095|2.095	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.53619|.	0.961|.	D|.	0.75020|.	0.985|.	T|T	0.71922|0.71922	-0.4446|-0.4446	10|5	0.62326|.	D|.	0.03|.	-20.6198|-20.6198	14.9868|14.9868	0.71353|0.71353	0.0:0.9311:0.0:0.0689|0.0:0.9311:0.0:0.0689	.|.	1027|.	O75334|.	LIPA2_HUMAN|.	K|I	1027;1012;563;213;926;1038;1012;1021;922;1006|129	ENSP00000450337:E1027K;ENSP00000450298:E1012K;ENSP00000438337:E563K;ENSP00000445532:E213K;ENSP00000385093:E926K;ENSP00000327416:E1012K;ENSP00000449338:E1021K;ENSP00000388373:E922K;ENSP00000447868:E1006K|.	ENSP00000327416:E1012K|.	E|M	-|-	1|3	0|0	PPFIA2|PPFIA2	80199300|80199300	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.975000|0.975000	0.68041|0.68041	7.722000|7.722000	0.84778|0.84778	1.511000|1.511000	0.48818|0.48818	0.555000|0.555000	0.69702|0.69702	GAA|ATG		0.393	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			52	86	0	0	0	1	0	52	86				
SSFA2	6744	broad.mit.edu	37	2	182766972	182766972	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:182766972G>C	ENST00000431877.2	+	8	1371	c.1192G>C	c.(1192-1194)Gaa>Caa	p.E398Q	SSFA2_ENST00000409001.1_Missense_Mutation_p.E398Q|SSFA2_ENST00000320370.7_Missense_Mutation_p.E398Q|SSFA2_ENST00000428267.2_Missense_Mutation_p.E245Q	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	398						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E398Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACAAAGTAAAGAAACTCAAAG	0.363																																						ENST00000431877.2																			1	Substitution - Missense(1)	p.E398Q(1)	kidney(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(1192-1194)Gaa>Caa		sperm specific antigen 2							66.0	71.0	69.0					2																	182766972		2201	4298	6499	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182766972G>C	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1192G>C	2.37:g.182766972G>C	ENSP00000388731:p.Glu398Gln		Somatic				SSFA2_ENST00000320370.7_Missense_Mutation_p.E398Q|SSFA2_ENST00000409001.1_Missense_Mutation_p.E398Q|SSFA2_ENST00000428267.2_Missense_Mutation_p.E245Q	p.E398Q	NM_001130445.1	NP_001123917.1	WXS	Illumina GAIIx	Phase_I	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		8	1371	+			398					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.1192G>C	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	7.223	0.597826	0.13875	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.15487	2.65;2.42;2.65;2.65	5.61	2.87	0.33458	.	1.257190	0.05280	N	0.519226	T	0.18383	0.0441	M	0.63428	1.95	0.09310	N	1	P;P;P;P	0.35272	0.493;0.493;0.493;0.493	B;B;B;B	0.31101	0.124;0.124;0.079;0.124	T	0.31166	-0.9953	10	0.23891	T	0.37	-0.5456	7.3748	0.26823	0.3913:0.0:0.6087:0.0	.	245;398;398;398	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	Q	398;398;398;245	ENSP00000388731:E398Q;ENSP00000314669:E398Q;ENSP00000387319:E398Q;ENSP00000409867:E245Q	ENSP00000314669:E398Q	E	+	1	0	SSFA2	182475217	0.562000	0.26586	0.146000	0.22360	0.282000	0.26991	1.410000	0.34691	0.425000	0.26087	0.650000	0.86243	GAA		0.363	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		24	71	0	0	0	1	0	24	71				
MAP3K1	4214	broad.mit.edu	37	5	56178361	56178361	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:56178361G>A	ENST00000399503.3	+	14	3334	c.3334G>A	c.(3334-3336)Gtg>Atg	p.V1112M		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1112					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGACGAGACAGTGTTCACCCC	0.423																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(3334-3336)Gtg>Atg		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							122.0	117.0	118.0					5																	56178361		1986	4177	6163	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56178361G>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3334G>A	5.37:g.56178361G>A	ENSP00000382423:p.Val1112Met		Somatic					p.V1112M	NM_005921.1	NP_005912.1	WXS	Illumina GAIIx	Phase_I	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	3334	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1112						Missense_Mutation	SNP	ENST00000399503.3	37	c.3334G>A	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030815	0.54790	.	.	ENSG00000095015	ENST00000399503	T	0.69806	-0.43	5.86	5.86	0.93980	.	0.132031	0.50627	D	0.000112	T	0.67776	0.2929	L	0.47716	1.5	0.51012	D	0.999902	P	0.42123	0.771	B	0.43575	0.424	T	0.68326	-0.5438	10	0.52906	T	0.07	.	20.1772	0.98182	0.0:0.0:1.0:0.0	.	1112	Q13233	M3K1_HUMAN	M	1112	ENSP00000382423:V1112M	ENSP00000382423:V1112M	V	+	1	0	MAP3K1	56214118	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	6.241000	0.72369	2.778000	0.95560	0.655000	0.94253	GTG		0.423	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		23	229	0	0	0	1	0	23	229				
HEATR1	55127	broad.mit.edu	37	1	236759191	236759191	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:236759191C>T	ENST00000366582.3	-	7	1012	c.898G>A	c.(898-900)Ggg>Agg	p.G300R	HEATR1_ENST00000366581.2_Missense_Mutation_p.G300R|HEATR1_ENST00000483073.1_5'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	300					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CAACTTAACCCATCCTTGATC	0.408																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(898-900)Ggg>Agg		HEAT repeat containing 1							122.0	112.0	115.0					1																	236759191		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236759191C>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.898G>A	1.37:g.236759191C>T	ENSP00000355541:p.Gly300Arg		Somatic				HEATR1_ENST00000366581.2_Missense_Mutation_p.G300R|HEATR1_ENST00000483073.1_5'UTR	p.G300R	NM_018072.5	NP_060542.4	WXS	Illumina GAIIx	Phase_I	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		7	1012	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	300					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.898G>A	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083620	0.94050	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.67171	-0.21;-0.25	5.3	5.3	0.74995	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81950	0.4931	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82948	-0.0204	10	0.62326	D	0.03	.	19.3085	0.94175	0.0:1.0:0.0:0.0	.	300	Q9H583	HEAT1_HUMAN	R	300	ENSP00000355541:G300R;ENSP00000355540:G300R	ENSP00000355540:G300R	G	-	1	0	HEATR1	234825814	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.262000	0.78410	2.642000	0.89623	0.591000	0.81541	GGG		0.408	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		4	195	0	0	0	1	0	4	195				
BAG6	7917	broad.mit.edu	37	6	31612931	31612931	+	Silent	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:31612931C>G	ENST00000375964.6	-	10	1492	c.1179G>C	c.(1177-1179)cgG>cgC	p.R393R	BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000404765.2_Silent_p.R387R|BAG6_ENST00000211379.5_Silent_p.R387R|BAG6_ENST00000362049.6_Silent_p.R387R|BAG6_ENST00000439687.2_Silent_p.R387R|BAG6_ENST00000375976.4_Silent_p.R387R	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	393	4 X 29 AA approximate repeats.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TTGGGGGGGGCCGAGTCCCAT	0.557																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(1159-1161)cgG>cgC		BCL2-associated athanogene 6							77.0	93.0	87.0					6																	31612931		1509	2707	4216	SO:0001819	synonymous_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31612931C>G	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.1179G>C	6.37:g.31612931C>G			Somatic				BAG6_ENST00000362049.6_Silent_p.R387R|BAG6_ENST00000211379.5_Silent_p.R387R|BAG6_ENST00000375964.6_Silent_p.R393R|BAG6_ENST00000439687.2_Silent_p.R387R|BAG6_ENST00000375976.4_Silent_p.R387R	p.R387R			WXS	Illumina GAIIx	Phase_I	P46379	BAG6_HUMAN			10	1450	-			393			4 X 29 AA approximate repeats.		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Silent	SNP	ENST00000375964.6	37	c.1161G>C	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	C	4.577	0.107223	0.08780	.	.	ENSG00000204463	ENST00000453833	.	.	.	4.82	2.82	0.32997	.	.	.	.	.	T	0.10680	0.0261	.	.	.	0.24084	N	0.995931	.	.	.	.	.	.	T	0.24333	-1.0163	4	.	.	.	.	4.0915	0.09972	0.1802:0.579:0.1505:0.0903	.	.	.	.	P	48	.	.	A	-	1	0	BAG6	31720910	0.270000	0.24152	0.998000	0.56505	0.520000	0.34377	-0.411000	0.07142	0.947000	0.37659	0.650000	0.86243	GCC		0.557	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		5	190	0	0	0	1	0	5	190				
MYCBP2	23077	broad.mit.edu	37	13	77655603	77655603	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:77655603G>A	ENST00000544440.2	-	65	11280	c.11263C>T	c.(11263-11265)Cgc>Tgc	p.R3755C	MYCBP2-AS2_ENST00000428716.2_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3755C|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R3793C|MYCBP2-AS1_ENST00000593933.1_RNA					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GACACATAGCGGGCATTGATT	0.413																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(11377-11379)Cgc>Tgc		MYC binding protein 2, E3 ubiquitin protein ligase							283.0	252.0	262.0					13																	77655603		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77655603G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.11263C>T	13.37:g.77655603G>A	ENSP00000444596:p.Arg3755Cys		Somatic				MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3755C|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3755C	p.R3793C	NM_015057.4	NP_055872.4	WXS	Illumina GAIIx	Phase_I	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	65	11643	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3755			DOC.			Missense_Mutation	SNP	ENST00000544440.2	37	c.11377C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.71|17.71	3.456012|3.456012	0.63401|0.63401	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000429715|ENST00000357337;ENST00000407578;ENST00000544440	.|T;T;T	.|0.64618	.|-0.11;-0.11;-0.11	5.33|5.33	5.33|5.33	0.75918|0.75918	.|Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	.|0.195509	.|0.46758	.|D	.|0.000274	T|T	0.61009|0.61009	0.2313|0.2313	L|L	0.42245|0.42245	1.32|1.32	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.56968	.|0.978	.|P	.|0.44477	.|0.451	T|T	0.67417|0.67417	-0.5676|-0.5676	5|10	.|0.87932	.|D	.|0	.|.	19.0092|19.0092	0.92865|0.92865	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3755	.|O75592	.|MYCB2_HUMAN	L|C	178|3755;3793;3755	.|ENSP00000349892:R3755C;ENSP00000384288:R3793C;ENSP00000444596:R3755C	.|ENSP00000349892:R3755C	P|R	-|-	2|1	0|0	MYCBP2|MYCBP2	76553604|76553604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.225000|5.225000	0.65294|0.65294	2.478000|2.478000	0.83669|0.83669	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.413	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		4	440	0	0	0	1	0	4	440				
OR4D1	26689	broad.mit.edu	37	17	56232613	56232613	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:56232613A>T	ENST00000268912.5	+	1	120	c.99A>T	c.(97-99)ttA>ttT	p.L33F		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	33					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGTTCCTGTTAGTCTATGTTA	0.458																																						ENST00000268912.5																			0				kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(97-99)ttA>ttT		olfactory receptor, family 4, subfamily D, member 1							145.0	144.0	145.0					17																	56232613		2027	4204	6231	SO:0001583	missense	26689				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56232613A>T	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.99A>T	17.37:g.56232613A>T	ENSP00000365451:p.Leu33Phe		Somatic					p.L33F	NM_012374.1	NP_036506.1	WXS	Illumina GAIIx	Phase_I	Q15615	OR4D1_HUMAN			1	120	+			33					B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	ENST00000268912.5	37	c.99A>T	CCDS42365.1	.	.	.	.	.	.	.	.	.	.	a	1.916	-0.449506	0.04572	.	.	ENSG00000141194	ENST00000268912	T	0.13901	2.55	5.48	-1.36	0.09085	.	1.091030	0.07211	N	0.859171	T	0.10981	0.0268	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.40961	-0.9535	10	0.22706	T	0.39	1.0207	6.8548	0.24034	0.2381:0.0:0.4019:0.3601	.	33	Q15615	OR4D1_HUMAN	F	33	ENSP00000365451:L33F	ENSP00000365451:L33F	L	+	3	2	OR4D1	53587612	0.000000	0.05858	0.069000	0.20011	0.142000	0.21351	-0.156000	0.10100	-0.203000	0.10251	-0.444000	0.05651	TTA		0.458	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			8	442	0	0	0	1	0	8	442				
AHNAK2	113146	broad.mit.edu	37	14	105421827	105421827	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:105421827C>T	ENST00000333244.5	-	5	578	c.459G>A	c.(457-459)ttG>ttA	p.L153L	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	153	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCTTCTCTCAAGTTAAAAA	0.582																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(457-459)ttG>ttA		AHNAK nucleoprotein 2							75.0	82.0	80.0					14																	105421827		1997	4169	6166	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105421827C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.459G>A	14.37:g.105421827C>T			Somatic					p.L153L	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		5	578	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	153			PDZ.		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.459G>A	CCDS45177.1																																																																																				0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		8	31	0	0	0	1	0	8	31				
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:107315388A>T	ENST00000265715.3	+	6	824		c.e6-1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTTATCGTAGTTGATATTT	0.398									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.e6-1		solute carrier family 26 (anion exchanger), member 4							211.0	198.0	202.0					7																	107315388		2203	4300	6503	SO:0001630	splice_region_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107315388A>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.601-1A>T	7.37:g.107315388A>T			Somatic						NM_000441.1	NP_000432.1	WXS	Illumina GAIIx	Phase_I	O43511	S26A4_HUMAN			6	824	+								B7Z266|O43170	Splice_Site	SNP	ENST00000265715.3	37		CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797617	0.70567	.	.	ENSG00000091137	ENST00000265715	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7942	0.78398	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC26A4	107102624	1.000000	0.71417	0.995000	0.50966	0.749000	0.42624	8.456000	0.90359	2.135000	0.66039	0.528000	0.53228	.		0.398	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	Intron	6	311	0	0	0	1	0	6	311				
ZNF511	118472	broad.mit.edu	37	10	135123728	135123728	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:135123728C>T	ENST00000359035.3	+	4	493	c.490C>T	c.(490-492)Cac>Tac	p.H164Y	TUBGCP2_ENST00000470829.1_5'Flank|TUBGCP2_ENST00000368563.2_5'Flank|ZNF511_ENST00000361518.5_Missense_Mutation_p.H164Y|ZNF511_ENST00000368554.4_Missense_Mutation_p.H99Y|TUBGCP2_ENST00000417178.2_5'Flank|ZNF511_ENST00000463816.2_3'UTR			Q8NB15	ZN511_HUMAN	zinc finger protein 511	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CCGGAAGGATCACATGGTGAG	0.552																																						ENST00000359035.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(490-492)Cac>Tac		zinc finger protein 511							108.0	108.0	108.0					10																	135123728		2203	4300	6503	SO:0001583	missense	118472				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:135123728C>T	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.490C>T	10.37:g.135123728C>T	ENSP00000351929:p.His164Tyr		Somatic				ZNF511_ENST00000368554.4_Missense_Mutation_p.H99Y|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000361518.5_Missense_Mutation_p.H164Y	p.H164Y			WXS	Illumina GAIIx	Phase_I	Q8NB15	ZN511_HUMAN		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)	4	493	+		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	164					A8K8L5|Q8WUP1|Q96BV2	Missense_Mutation	SNP	ENST00000359035.3	37	c.490C>T		.	.	.	.	.	.	.	.	.	.	C	18.18	3.567711	0.65651	.	.	ENSG00000198546	ENST00000361518;ENST00000359035;ENST00000368554	T;T;T	0.66815	-0.23;-0.23;-0.23	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.86372	0.5917	M	0.92833	3.35	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.89301	0.3626	10	0.87932	D	0	-29.3811	18.0835	0.89451	0.0:1.0:0.0:0.0	.	164;99;164	Q8NB15;E1U340;Q8NB15-2	ZN511_HUMAN;.;.	Y	164;164;99	ENSP00000355251:H164Y;ENSP00000351929:H164Y;ENSP00000357542:H99Y	ENSP00000351929:H164Y	H	+	1	0	ZNF511	134973718	1.000000	0.71417	0.995000	0.50966	0.112000	0.19704	7.046000	0.76592	2.701000	0.92244	0.655000	0.94253	CAC		0.552	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	NM_145806		34	31	0	0	0	1	0	34	31				
ARMC8	25852	broad.mit.edu	37	3	137960814	137960814	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:137960814G>A	ENST00000469044.1	+	11	1298	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	ARMC8_ENST00000491704.1_Missense_Mutation_p.D301N|ARMC8_ENST00000358441.2_Missense_Mutation_p.D329N|ARMC8_ENST00000470821.1_Missense_Mutation_p.D343N|ARMC8_ENST00000471453.1_Missense_Mutation_p.D329N|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000485396.1_Missense_Mutation_p.D270N|ARMC8_ENST00000489213.1_Missense_Mutation_p.D301N|ARMC8_ENST00000481646.1_Missense_Mutation_p.D329N|ARMC8_ENST00000393058.3_Missense_Mutation_p.D333N|ARMC8_ENST00000538260.1_Missense_Mutation_p.D312N	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	343										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGCCATCACTGATATTAAAAG	0.373																																						ENST00000469044.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.(1027-1029)Gat>Aat		armadillo repeat containing 8							117.0	105.0	109.0					3																	137960814		2203	4300	6503	SO:0001583	missense	25852						binding	g.chr3:137960814G>A		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1027G>A	3.37:g.137960814G>A	ENSP00000419413:p.Asp343Asn		Somatic				ARMC8_ENST00000471453.1_Missense_Mutation_p.D329N|ARMC8_ENST00000470821.1_Missense_Mutation_p.D343N|ARMC8_ENST00000489213.1_Missense_Mutation_p.D301N|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Missense_Mutation_p.D301N|ARMC8_ENST00000358441.2_Missense_Mutation_p.D329N|ARMC8_ENST00000485396.1_Missense_Mutation_p.D270N|ARMC8_ENST00000481646.1_Missense_Mutation_p.D329N|ARMC8_ENST00000393058.3_Missense_Mutation_p.D333N|ARMC8_ENST00000538260.1_Missense_Mutation_p.D312N	p.D343N	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	WXS	Illumina GAIIx	Phase_I	Q8IUR7	ARMC8_HUMAN			11	1298	+			343					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37	c.1027G>A		.	.	.	.	.	.	.	.	.	.	G	20.6	4.017578	0.75161	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000358441;ENST00000489213;ENST00000485396;ENST00000471453;ENST00000470821;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459	T;T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;2.17;1.45;0.23;2.17;2.16;0.22;-0.12	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73760	0.3628	L	0.42245	1.32	0.80722	D	1	D;D;D;B;D;D	0.71674	0.993;0.996;0.993;0.187;0.996;0.998	D;D;D;B;D;D	0.77557	0.956;0.981;0.956;0.039;0.99;0.943	T	0.71856	-0.4466	10	0.46703	T	0.11	-38.0405	17.8686	0.88804	0.0:0.0:1.0:0.0	.	270;312;343;329;343;329	B7Z637;F5GWK4;Q8IUR7;Q8IUR7-2;G5E9V6;Q8IUR7-6	.;.;ARMC8_HUMAN;.;.;.	N	329;343;301;329;301;270;329;343;312;333;237;200	ENSP00000420333:D329N;ENSP00000419413:D343N;ENSP00000417304:D301N;ENSP00000351221:D329N;ENSP00000418412:D301N;ENSP00000417049:D270N;ENSP00000420440:D329N;ENSP00000418405:D343N;ENSP00000441592:D312N;ENSP00000376778:D333N	ENSP00000351221:D329N	D	+	1	0	ARMC8	139443504	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.852000	0.99516	2.817000	0.96982	0.563000	0.77884	GAT		0.373	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		139	174	0	0	0	1	0	139	174				
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:183495729A>T	ENST00000347615.2	+	5	431		c.e5-1		SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000367537.3_Splice_Site	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTTTTCTTTTAGTTATTACAA	0.333																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.e6-1		SMG7 nonsense mediated mRNA decay factor							70.0	75.0	74.0					1																	183495729		2203	4300	6503	SO:0001630	splice_region_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183495729A>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.313-1A>T	1.37:g.183495729A>T			Somatic				SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000456731.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			6	594	+								B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Splice_Site	SNP	ENST00000347615.2	37		CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464105	0.63513	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1025	0.81194	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMG7	181762352	1.000000	0.71417	0.974000	0.42286	0.892000	0.51952	8.638000	0.91019	2.254000	0.74563	0.533000	0.62120	.		0.333	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837	Intron	16	129	0	0	0	1	0	16	129				
EAPP	55837	broad.mit.edu	37	14	34994015	34994015	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:34994015T>A	ENST00000250454.3	-	5	552		c.e5-2			NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein						negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		CCATGGTAACTAGAACAGAAG	0.403																																						ENST00000250454.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12						c.e5-2		E2F-associated phosphoprotein							118.0	108.0	111.0					14																	34994015		1919	4138	6057	SO:0001630	splice_region_variant	55837				negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		g.chr14:34994015T>A	AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.471-2A>T	14.37:g.34994015T>A			Somatic						NM_018453.3	NP_060923.2	WXS	Illumina GAIIx	Phase_I	Q56P03	EAPP_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)	5	552	-	Breast(36;0.0473)|Hepatocellular(127;0.158)							Q9BVF4|Q9NWV5|Q9NZ86	Splice_Site	SNP	ENST00000250454.3	37		CCDS41941.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.480316	0.63849	.	.	ENSG00000129518	ENST00000250454;ENST00000554792	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9833	0.41826	0.0:0.0759:0.0:0.9241	.	.	.	.	.	-1	.	.	.	-	.	.	EAPP	34063766	0.995000	0.38212	0.968000	0.41197	0.927000	0.56198	3.863000	0.56016	2.141000	0.66446	0.459000	0.35465	.		0.403	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453	Intron	5	216	0	0	0	1	0	5	216				
SMC2	10592	broad.mit.edu	37	9	106880627	106880627	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:106880627T>A	ENST00000286398.7	+	15	2255	c.1967T>A	c.(1966-1968)gTg>gAg	p.V656E	SMC2_ENST00000374793.3_Missense_Mutation_p.V656E|SMC2_ENST00000374787.3_Missense_Mutation_p.V656E|SMC2_ENST00000303219.8_Missense_Mutation_p.V656E	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	656	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGAGGTGATGTGTTTGATCCT	0.363																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(1966-1968)gTg>gAg		structural maintenance of chromosomes 2							161.0	142.0	149.0					9																	106880627		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106880627T>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1967T>A	9.37:g.106880627T>A	ENSP00000286398:p.Val656Glu		Somatic				SMC2_ENST00000374793.3_Missense_Mutation_p.V656E|SMC2_ENST00000374787.3_Missense_Mutation_p.V656E|SMC2_ENST00000303219.8_Missense_Mutation_p.V656E	p.V656E	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	WXS	Illumina GAIIx	Phase_I	O95347	SMC2_HUMAN			15	2255	+			656			Flexible hinge.		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.1967T>A	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.850890	0.32699	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	4.98	4.98	0.66077	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.240158	0.40385	N	0.001115	D	0.86863	0.6035	L	0.45137	1.4	0.46376	D	0.999015	B;P	0.44195	0.032;0.828	B;P	0.53360	0.028;0.724	D	0.86464	0.1781	10	0.52906	T	0.07	-10.8326	8.3371	0.32221	0.0:0.0881:0.0:0.9119	.	656;656	O95347;Q2KQ72	SMC2_HUMAN;.	E	656	ENSP00000286398:V656E;ENSP00000363925:V656E;ENSP00000306152:V656E;ENSP00000363919:V656E	ENSP00000286398:V656E	V	+	2	0	SMC2	105920448	0.832000	0.29368	0.977000	0.42913	0.319000	0.28217	3.532000	0.53553	2.100000	0.63781	0.482000	0.46254	GTG		0.363	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			11	97	0	0	0	1	0	11	97				
MARK1	4139	broad.mit.edu	37	1	220752837	220752837	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:220752837A>G	ENST00000366917.4	+	2	459	c.193A>G	c.(193-195)Aca>Gca	p.T65A	MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000485104.1_3'UTR|MARK1_ENST00000366918.4_Missense_Mutation_p.T65A					MAP/microtubule affinity-regulating kinase 1									p.T65A(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTTACAAAAAACAATAGGGAA	0.428																																						ENST00000366918.4																			1	Substitution - Missense(1)	p.T65A(1)	kidney(1)	central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63						c.(193-195)Aca>Gca		MAP/microtubule affinity-regulating kinase 1							96.0	89.0	92.0					1																	220752837		2203	4300	6503	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220752837A>G	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.193A>G	1.37:g.220752837A>G	ENSP00000355884:p.Thr65Ala		Somatic				MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000472121.1_3'UTR|MARK1_ENST00000366917.4_Missense_Mutation_p.T65A	p.T65A			WXS	Illumina GAIIx	Phase_I	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	2	790	+			65			Protein kinase.			Missense_Mutation	SNP	ENST00000366917.4	37	c.193A>G	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	A	31	5.077407	0.94000	.	.	ENSG00000116141	ENST00000366918;ENST00000366917	T;T	0.24908	1.83;1.83	5.76	5.76	0.90799	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	L	0.42008	1.315	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.85130	0.954;0.986;0.997	T	0.38779	-0.9645	10	0.87932	D	0	.	16.0789	0.80985	1.0:0.0:0.0:0.0	.	65;65;65	B4DIB3;Q9P0L2;Q9P0L2-3	.;MARK1_HUMAN;.	A	65	ENSP00000355885:T65A;ENSP00000355884:T65A	ENSP00000355884:T65A	T	+	1	0	MARK1	218819460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.515000	0.81761	2.192000	0.70111	0.460000	0.39030	ACA		0.428	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			45	82	0	0	0	1	0	45	82				
ANKRD30BP3	338579	broad.mit.edu	37	10	45652235	45652235	+	RNA	SNP	C	C	G	rs149362183		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:45652235C>G	ENST00000427229.2	+	0	1749																											GAAGGAACATCTGAAGGAACA	0.478																																						ENST00000427229.2																			0																																																			338579							g.chr10:45652235C>G																													10.37:g.45652235C>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	1749	+									RNA	SNP	ENST00000427229.2	37																																																																																						0.478	RP11-445N18.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000470688.1			8	29	0	0	0	1	0	8	29				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240795	39240795	+	Missense_Mutation	SNP	A	A	T	rs541163988|rs553572799|rs9894966	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:39240795A>T	ENST00000391417.4	+	1	337	c.337A>T	c.(337-339)Agc>Tgc	p.S113C		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	138	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R111_C115delRPSCC(1)|p.S113C(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ctgccgccccagctgctgccg	0.667																																						ENST00000391417.4																			3	Substitution - Missense(1)|Unknown(1)|Deletion - In frame(1)	p.R111_C115delRPSCC(1)|p.S113C(1)|p.?(1)	NS(2)|prostate(1)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(337-339)Agc>Tgc		keratin associated protein 4-7							13.0	14.0	14.0					17																	39240795		692	1589	2281	SO:0001583	missense	100132476							g.chr17:39240795A>T	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.337A>T	17.37:g.39240795A>T	ENSP00000375236:p.Ser113Cys		Somatic					p.S113C	NM_033061.3	NP_149050.3	WXS	Illumina GAIIx	Phase_I					1	337	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.337A>T	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	2.613	-0.290379	0.05568	.	.	ENSG00000240871	ENST00000391417	T	0.00640	6.03	2.73	1.42	0.22433	.	2.038930	0.02697	N	0.111300	T	0.00666	0.0022	.	.	.	0.20403	N	0.999909	B	0.09022	0.002	B	0.12837	0.008	T	0.46190	-0.9209	9	0.56958	D	0.05	.	3.0387	0.06130	0.5149:0.2451:0.0:0.24	rs9894966	168	Q9BYR0	KRA47_HUMAN	C	113	ENSP00000375236:S113C	ENSP00000375236:S113C	S	+	1	0	KRTAP4-7	36494321	0.000000	0.05858	0.056000	0.19401	0.021000	0.10359	-0.332000	0.07904	0.986000	0.38683	0.240000	0.17902	AGC		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			5	4	0	0	0	1	0	5	4				
MCC	4163	broad.mit.edu	37	5	112458444	112458444	+	Missense_Mutation	SNP	C	C	T	rs557562317		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:112458444C>T	ENST00000302475.4	-	4	957	c.394G>A	c.(394-396)Gac>Aac	p.D132N	MCC_ENST00000408903.3_Missense_Mutation_p.D322N|MCC_ENST00000515367.2_Missense_Mutation_p.D69N|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	132					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGGTCTTGGTCCATGCTTCGA	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		17046	0.001		0.0	False		,,,				2504	0.0					ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(394-396)Gac>Aac		mutated in colorectal cancers							175.0	140.0	152.0					5																	112458444		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112458444C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.394G>A	5.37:g.112458444C>T	ENSP00000305617:p.Asp132Asn		Somatic				MCC_ENST00000515367.2_Missense_Mutation_p.D69N|MCC_ENST00000408903.3_Missense_Mutation_p.D322N|MCC_ENST00000514701.3_5'UTR	p.D132N	NM_002387.2	NP_002378.1	WXS	Illumina GAIIx	Phase_I	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	4	957	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	132					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.394G>A	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469768	0.84533	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.79653	-1.29;2.25;1.08	5.76	5.76	0.90799	.	0.054648	0.64402	D	0.000002	T	0.71962	0.3402	N	0.08118	0	0.80722	D	1	P;B;P;P	0.50156	0.734;0.247;0.932;0.598	B;B;P;B	0.46543	0.135;0.086;0.52;0.135	T	0.75572	-0.3271	10	0.42905	T	0.14	-27.2161	19.5723	0.95425	0.0:1.0:0.0:0.0	.	132;94;322;132	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	N	132;69;322	ENSP00000305617:D132N;ENSP00000421615:D69N;ENSP00000386227:D322N	ENSP00000305617:D132N	D	-	1	0	MCC	112486343	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.155000	0.71833	2.724000	0.93272	0.563000	0.77884	GAC		0.522	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		7	153	0	0	0	1	0	7	153				
CLC	1178	broad.mit.edu	37	19	40225125	40225125	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:40225125G>A	ENST00000221804.4	-	3	176	c.101C>T	c.(100-102)cCa>cTa	p.P34L		NM_001828.5	NP_001819.2	Q05315	LEG10_HUMAN	Charcot-Leyden crystal galectin	34	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				multicellular organismal development (GO:0007275)|regulation of activated T cell proliferation (GO:0046006)|regulation of T cell anergy (GO:0002667)|regulation of T cell cytokine production (GO:0002724)|T cell apoptotic process (GO:0070231)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		CTGCAGATATGGTTCATTCCT	0.512																																						ENST00000221804.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12						c.(100-102)cCa>cTa		Charcot-Leyden crystal galectin							105.0	94.0	98.0					19																	40225125		2203	4300	6503	SO:0001583	missense	1178				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40225125G>A	L01664	CCDS33025.1	19q13.1	2013-06-12	2013-06-12		ENSG00000105205	ENSG00000105205		"""Lectins, galactoside-binding"""	2014	protein-coding gene	gene with protein product	"""eosinophil lysophospholipase"", ""lysolecithin acylhydrolase"", ""galectin 10"", ""lectin, galactoside-binding, soluble, 10"""	153310	"""Charcot-Leyden crystal protein"""			1577491, 11834744	Standard	NM_001828		Approved	LGALS10, MGC149659, Gal-10	uc002omh.3	Q05315		ENST00000221804.4:c.101C>T	19.37:g.40225125G>A	ENSP00000221804:p.Pro34Leu		Somatic					p.P34L	NM_001828.5	NP_001819.2	WXS	Illumina GAIIx	Phase_I	Q05315	LPPL_HUMAN	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)	3	176	-	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	34			Galectin.		C5HZ13|C5HZ14|Q0VDE3	Missense_Mutation	SNP	ENST00000221804.4	37	c.101C>T	CCDS33025.1	.	.	.	.	.	.	.	.	.	.	.	10.68	1.418142	0.25552	.	.	ENSG00000105205	ENST00000221804	T	0.17691	2.26	0.744	0.744	0.18353	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.43233	0.1238	M	0.88842	2.985	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12630	-1.0540	8	0.49607	T	0.09	.	.	.	.	.	34	Q05315	LPPL_HUMAN	L	34	ENSP00000221804:P34L	ENSP00000221804:P34L	P	-	2	0	CLC	44916965	0.005000	0.15991	0.005000	0.12908	0.005000	0.04900	1.400000	0.34577	0.658000	0.30925	0.305000	0.20034	CCA		0.512	CLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465225.1	NM_001828		7	645	0	0	0	1	0	7	645				
NLRP12	91662	broad.mit.edu	37	19	54299115	54299115	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:54299115G>A	ENST00000324134.6	-	9	3264	c.3096C>T	c.(3094-3096)ctC>ctT	p.L1032L	NLRP12_ENST00000391775.3_Silent_p.L975L|NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000391773.1_Silent_p.L1033L|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000345770.5_Intron|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000351894.4_Silent_p.L920L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1032					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCCTCACCAGAGGACTCGGA	0.552																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(3094-3096)ctC>ctT		NLR family, pyrin domain containing 12							59.0	49.0	52.0					19																	54299115		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54299115G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.3096C>T	19.37:g.54299115G>A			Somatic				NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000391773.1_Silent_p.L1033L|NLRP12_ENST00000391775.3_Silent_p.L975L|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Silent_p.L920L|NLRP12_ENST00000345770.5_Intron	p.L1032L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	WXS	Illumina GAIIx	Phase_I	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	9	3264	-	Ovarian(34;0.19)		1032					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.3096C>T	CCDS12864.1																																																																																				0.552	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		5	76	0	0	0	1	0	5	76				
ZNF876P	642280	broad.mit.edu	37	4	206531	206531	+	RNA	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:206531C>G	ENST00000356347.3	+	0	133					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTGGATGATTCGTAGCTAAGA	0.632																																						ENST00000356347.3																			0																																																			642280							g.chr4:206531C>G	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.206531C>G			Somatic						NR_027481.1		WXS	Illumina GAIIx	Phase_I					0	133	+									RNA	SNP	ENST00000356347.3	37																																																																																						0.632	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		4	52	0	0	0	1	0	4	52				
ABCC4	10257	broad.mit.edu	37	13	95860093	95860093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:95860093C>T	ENST00000376887.4	-	7	986	c.872G>A	c.(871-873)tGg>tAg	p.W291*	snoU13_ENST00000459449.1_RNA|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.W291*|ABCC4_ENST00000431522.1_Nonsense_Mutation_p.W291*|ABCC4_ENST00000536256.1_Nonsense_Mutation_p.W216*	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	291	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TGACTTTTCCCAGGCGTACAT	0.328																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(871-873)tGg>tAg		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						88.0	89.0	88.0					13																	95860093		2203	4300	6503	SO:0001587	stop_gained	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95860093C>T	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.872G>A	13.37:g.95860093C>T	ENSP00000366084:p.Trp291*		Somatic				ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Nonsense_Mutation_p.W216*|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.W291*|ABCC4_ENST00000431522.1_Nonsense_Mutation_p.W291*	p.W291*	NM_005845.3	NP_005836.2	WXS	Illumina GAIIx	Phase_I	O15439	MRP4_HUMAN			7	986	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		291			ABC transmembrane type-1 1.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Nonsense_Mutation	SNP	ENST00000376887.4	37	c.872G>A	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	38	7.139551	0.98088	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7173	0.96127	0.0:1.0:0.0:0.0	.	.	.	.	X	291;291;216;291	.	ENSP00000366084:W291X	W	-	2	0	ABCC4	94658094	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	7.262000	0.78410	2.724000	0.93272	0.563000	0.77884	TGG		0.328	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		4	31	0	0	0	1	0	4	31				
DOK6	220164	broad.mit.edu	37	18	67345004	67345004	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr18:67345004C>T	ENST00000382713.5	+	4	514	c.324C>T	c.(322-324)tgC>tgT	p.C108C	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	108	PH.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AGCACCTCTGCATGGAGTGTC	0.537																																						ENST00000382713.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20						c.(322-324)tgC>tgT		docking protein 6							123.0	113.0	117.0					18																	67345004		2203	4300	6503	SO:0001819	synonymous_variant	220164						insulin receptor binding	g.chr18:67345004C>T	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.324C>T	18.37:g.67345004C>T			Somatic				DOK6_ENST00000584435.1_3'UTR	p.C108C	NM_152721.5	NP_689934.2	WXS	Illumina GAIIx	Phase_I	Q6PKX4	DOK6_HUMAN			4	514	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	108			PH.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Silent	SNP	ENST00000382713.5	37	c.324C>T	CCDS32841.1																																																																																				0.537	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		20	187	0	0	0	1	0	20	187				
MYO5A	4644	broad.mit.edu	37	15	52725484	52725484	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:52725484T>A	ENST00000399231.3	-	2	271		c.e2-2		MYO5A_ENST00000358212.6_Splice_Site|MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000399233.2_Splice_Site	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)						actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CCTGGCAAACTAGAAGACAAA	0.318																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.e2-2		myosin VA (heavy chain 12, myoxin)							65.0	59.0	61.0					15																	52725484		1790	4061	5851	SO:0001630	splice_region_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52725484T>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.28-2A>T	15.37:g.52725484T>A			Somatic				MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000358212.6_Splice_Site|MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000399233.2_Splice_Site		NM_000259.3	NP_000250.3	WXS	Illumina GAIIx	Phase_I	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	2	271	-								A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Splice_Site	SNP	ENST00000399231.3	37		CCDS42037.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.256356	0.80246	.	.	ENSG00000197535	ENST00000399231;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000553916	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.884	0.79226	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO5A	50512776	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	7.698000	0.84413	2.161000	0.67846	0.454000	0.30748	.		0.318	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	Intron	4	147	0	0	0	1	0	4	147				
CCDC18	343099	broad.mit.edu	37	1	93649533	93649533	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:93649533A>T	ENST00000343253.7	+	3	636		c.e3-1		CCDC18_ENST00000338949.4_Splice_Site|CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000557479.1_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18											breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTTTTTCTCTAGTGTTAGTCC	0.328																																						ENST00000343253.7																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.e3-1		coiled-coil domain containing 18							115.0	105.0	108.0					1																	93649533		1810	4073	5883	SO:0001630	splice_region_variant	343099							g.chr1:93649533A>T			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.135-1A>T	1.37:g.93649533A>T			Somatic				CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000338949.4_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site|CCDC18_ENST00000557479.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	3	636	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)						Q6ZU17	Splice_Site	SNP	ENST00000343253.7	37			.	.	.	.	.	.	.	.	.	.	A	19.31	3.803472	0.70682	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000448243;ENST00000370276	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9043	0.63823	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC18	93422121	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.947000	0.49058	2.306000	0.77630	0.482000	0.46254	.		0.328	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886	Intron	4	170	0	0	0	1	0	4	170				
ALS2	57679	broad.mit.edu	37	2	202626521	202626521	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:202626521C>T	ENST00000264276.6	-	4	568	c.196G>A	c.(196-198)Ggg>Agg	p.G66R	ALS2_ENST00000467448.1_Missense_Mutation_p.G66R|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	66					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GGAAGAGTCCCAAAGCTGTAG	0.388																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(196-198)Ggg>Agg		amyotrophic lateral sclerosis 2 (juvenile)							70.0	65.0	67.0					2																	202626521		1823	4073	5896	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202626521C>T	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.196G>A	2.37:g.202626521C>T	ENSP00000264276:p.Gly66Arg		Somatic				ALS2_ENST00000467448.1_Missense_Mutation_p.G66R|ALS2_ENST00000496244.1_5'UTR	p.G66R	NM_020919.3	NP_065970.2	WXS	Illumina GAIIx	Phase_I	Q96Q42	ALS2_HUMAN			4	568	-			66					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.196G>A	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034720	0.93575	.	.	ENSG00000003393	ENST00000264276;ENST00000467448;ENST00000409632;ENST00000410052	D;D;D;D	0.99245	-5.62;-5.62;-5.62;-5.62	6.07	6.07	0.98685	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.99582	0.9849	M	0.91561	3.22	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98459	1.0595	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	66;66;66;66	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	R	66	ENSP00000264276:G66R;ENSP00000429223:G66R;ENSP00000386384:G66R;ENSP00000386948:G66R	ENSP00000264276:G66R	G	-	1	0	ALS2	202334766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.885000	0.99019	0.655000	0.94253	GGG		0.388	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		5	146	0	0	0	1	0	5	146				
TCEANC2	127428	broad.mit.edu	37	1	54562078	54562078	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:54562078G>A	ENST00000234827.1	+	5	759	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	TCEANC2_ENST00000371331.1_Missense_Mutation_p.E217K|TCEANC2_ENST00000498272.1_3'UTR	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	187	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E187K(1)		kidney(1)|lung(3)|pancreas(1)	5						GCACCGAGCTGAAATCCGGGC	0.572																																						ENST00000234827.1																			1	Substitution - Missense(1)	p.E187K(1)	kidney(1)	kidney(1)|lung(3)|pancreas(1)	5						c.(559-561)Gaa>Aaa		transcription elongation factor A (SII) N-terminal and central domain containing 2							46.0	52.0	50.0					1																	54562078		2203	4300	6503	SO:0001583	missense	127428				transcription, DNA-dependent	nucleus	DNA binding	g.chr1:54562078G>A	AK056674	CCDS587.1	1p32.3	2011-01-25	2011-01-25	2011-01-25	ENSG00000116205	ENSG00000116205			26494	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 83"""	C1orf83		12477932	Standard	NM_153035		Approved	FLJ32112	uc001cwt.1	Q96MN5	OTTHUMG00000008434	ENST00000234827.1:c.559G>A	1.37:g.54562078G>A	ENSP00000234827:p.Glu187Lys		Somatic				TCEANC2_ENST00000371331.1_Missense_Mutation_p.E217K|TCEANC2_ENST00000498272.1_3'UTR	p.E187K	NM_153035.1	NP_694580.1	WXS	Illumina GAIIx	Phase_I	Q96MN5	TEAN2_HUMAN			5	759	+			187			TFIIS central.		Q5T702|Q8N8N2	Missense_Mutation	SNP	ENST00000234827.1	37	c.559G>A	CCDS587.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357502	0.82243	.	.	ENSG00000116205	ENST00000234827;ENST00000371331	T;T	0.45668	0.89;0.89	5.34	4.37	0.52481	Transcription elongation factor S-II, central domain (3);	0.198130	0.52532	D	0.000075	T	0.51601	0.1684	L	0.54323	1.7	0.58432	D	0.999999	P	0.52842	0.956	P	0.55545	0.778	T	0.42682	-0.9437	10	0.28530	T	0.3	-15.5344	15.46	0.75346	0.0:0.1389:0.8611:0.0	.	187	Q96MN5	TEAN2_HUMAN	K	187;217	ENSP00000234827:E187K;ENSP00000360382:E217K	ENSP00000234827:E187K	E	+	1	0	TCEANC2	54334666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.036000	0.70948	2.522000	0.85027	0.563000	0.77884	GAA		0.572	TCEANC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023245.1	NM_153035		22	59	0	0	0	1	0	22	59				
CELSR2	1952	broad.mit.edu	37	1	109794216	109794216	+	Silent	SNP	C	C	T	rs371030910		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:109794216C>T	ENST00000271332.3	+	1	1576	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	505	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCCATCTTCGTCAGCACCC	0.572																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(1513-1515)ttC>ttT		cadherin, EGF LAG seven-pass G-type receptor 2		C		1,4405		0,1,2202	151.0	125.0	134.0		1515	-8.6	0.5	1		134	0,8600		0,0,4300	no	coding-synonymous	CELSR2	NM_001408.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		505/2924	109794216	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109794216C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1515C>T	1.37:g.109794216C>T			Somatic					p.F505F	NM_001408.2	NP_001399.1	WXS	Illumina GAIIx	Phase_I	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	1576	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	505			Cadherin 3.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.1515C>T	CCDS796.1																																																																																				0.572	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		4	115	0	0	0	1	0	4	115				
PITRM1	10531	broad.mit.edu	37	10	3197825	3197825	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:3197825C>T	ENST00000224949.4	-	14	1613	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	PITRM1_ENST00000380989.2_Missense_Mutation_p.E527K|PITRM1_ENST00000380994.1_Missense_Mutation_p.E85K|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.E495K			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	527					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.E527K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GACAGAGCCTCGACCTTCTGC	0.557																																						ENST00000380989.2																			1	Substitution - Missense(1)	p.E527K(1)	kidney(1)	breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(1579-1581)Gag>Aag		pitrilysin metallopeptidase 1							126.0	131.0	129.0					10																	3197825		2049	4204	6253	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3197825C>T	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1579G>A	10.37:g.3197825C>T	ENSP00000224949:p.Glu527Lys		Somatic				PITRM1_ENST00000224949.4_Missense_Mutation_p.E527K|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.E495K|PITRM1_ENST00000380994.1_Missense_Mutation_p.E85K	p.E527K	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	WXS	Illumina GAIIx	Phase_I	E7ES23	E7ES23_HUMAN			14	1617	-			495					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.1579G>A	CCDS59208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.264|0.264	-0.997331|-0.997331	0.02145|0.02145	.|.	.|.	ENSG00000107959|ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104|ENST00000430362	T;T;T;T|.	0.20881|.	2.04;2.04;2.04;2.04|.	5.37|5.37	-5.36|-5.36	0.02689|0.02689	Peptidase M16C associated (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);|.	1.189430|.	0.05448|.	N|.	0.548869|.	T|T	0.14787|0.14787	0.0357|0.0357	N|N	0.02802|0.02802	-0.49|-0.49	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.06786|.	0.001;0.001;0.0;0.0;0.0;0.001|.	B;B;B;B;B;B|.	0.06405|.	0.001;0.002;0.001;0.002;0.002;0.002|.	T|T	0.30650|0.30650	-0.9971|-0.9971	10|5	0.07990|.	T|.	0.79|.	.|.	14.9198|14.9198	0.70829|0.70829	0.0:0.5308:0.0:0.4692|0.0:0.5308:0.0:0.4692	.|.	520;495;527;527;527;520|.	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07|.	.;.;.;.;PREP_HUMAN;.|.	K|Q	527;520;527;85;495|163	ENSP00000224949:E527K;ENSP00000370377:E527K;ENSP00000370382:E85K;ENSP00000401201:E495K|.	ENSP00000224949:E527K|.	E|R	-|-	1|2	0|0	PITRM1|PITRM1	3187825|3187825	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.503000|-1.503000	0.02277|0.02277	-0.749000|-0.749000	0.04747|0.04747	-0.214000|-0.214000	0.12660|0.12660	GAG|CGA		0.557	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			89	52	0	0	0	1	0	89	52				
ILVBL	10994	broad.mit.edu	37	19	15230241	15230241	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:15230241G>A	ENST00000263383.3	-	8	1041	c.902C>T	c.(901-903)gCc>gTc	p.A301V	ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Missense_Mutation_p.A194V	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	301						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AAGCTTGTCGGCAGACGTTGG	0.662																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(901-903)gCc>gTc		ilvB (bacterial acetolactate synthase)-like							53.0	49.0	50.0					19																	15230241		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15230241G>A	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.902C>T	19.37:g.15230241G>A	ENSP00000263383:p.Ala301Val		Somatic				ILVBL_ENST00000534378.1_Missense_Mutation_p.A194V|ILVBL_ENST00000531635.1_5'UTR	p.A301V	NM_006844.3	NP_006835.2	WXS	Illumina GAIIx	Phase_I	A1L0T0	ILVBL_HUMAN			8	1041	-			301					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.902C>T	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	G	7.231	0.599382	0.13939	.	.	ENSG00000105135	ENST00000263383	T	0.42513	0.97	5.28	5.28	0.74379	Thiamine pyrophosphate enzyme, central domain (1);	0.494448	0.22853	N	0.054840	T	0.27798	0.0684	N	0.20445	0.575	0.09310	N	0.999994	B	0.09022	0.002	B	0.20955	0.032	T	0.10613	-1.0622	10	0.30854	T	0.27	-4.9483	9.9338	0.41539	0.0928:0.0:0.9072:0.0	.	301	A1L0T0	ILVBL_HUMAN	V	301	ENSP00000263383:A301V	ENSP00000263383:A301V	A	-	2	0	ILVBL	15091241	0.428000	0.25522	0.006000	0.13384	0.001000	0.01503	2.257000	0.43240	2.471000	0.83476	0.655000	0.94253	GCC		0.662	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		3	47	0	0	0	1	0	3	47				
SECISBP2	79048	broad.mit.edu	37	9	91965577	91965577	+	Silent	SNP	G	G	A	rs41288139	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:91965577G>A	ENST00000375807.3	+	14	1994	c.1923G>A	c.(1921-1923)gtG>gtA	p.V641V	SECISBP2_ENST00000339901.4_Silent_p.V568V|SECISBP2_ENST00000534113.2_Silent_p.V573V	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	641					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GTAAAGAAGTGGATGCTTGTG	0.483																																						ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(1921-1923)gtG>gtA		SECIS binding protein 2		G		1,4405	2.1+/-5.4	0,1,2202	266.0	227.0	240.0		1923	-9.7	0.1	9	dbSNP_127	240	8,8592	7.1+/-27.0	0,8,4292	no	coding-synonymous	SECISBP2	NM_024077.3		0,9,6494	AA,AG,GG		0.093,0.0227,0.0692		641/855	91965577	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91965577G>A	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1923G>A	9.37:g.91965577G>A			Somatic				SECISBP2_ENST00000534113.2_Silent_p.V573V|SECISBP2_ENST00000339901.4_Silent_p.V568V	p.V641V	NM_024077.3	NP_076982.3	WXS	Illumina GAIIx	Phase_I	Q96T21	SEBP2_HUMAN			14	1994	+			641					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Silent	SNP	ENST00000375807.3	37	c.1923G>A	CCDS6683.1																																																																																				0.483	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		6	498	0	0	0	1	0	6	498				
RARA	5914	broad.mit.edu	37	17	38506145	38506145	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:38506145A>G	ENST00000254066.5	+	4	892	c.437A>G	c.(436-438)cAg>cGg	p.Q146R	RARA_ENST00000394089.2_Missense_Mutation_p.Q146R|RARA_ENST00000394081.3_Missense_Mutation_p.Q141R|RARA_ENST00000425707.3_Intron|RARA_ENST00000394086.3_Missense_Mutation_p.Q162R	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	146					apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)	p.Q146R(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TGCCGACTGCAGAAGTGCTTT	0.577			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																	ENST00000254066.5				Dom	yes		17	17q12	5914	T	"""retinoic acid receptor, alpha"""			L	"""PML, ZNF145, TIF1, NUMA1, NPM1"""		APL		1	Substitution - Missense(1)	p.Q146R(1)	kidney(1)	breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16						c.(436-438)cAg>cGg		retinoic acid receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)						111.0	90.0	97.0					17																	38506145		2203	4300	6503	SO:0001583	missense	5914				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr17:38506145A>G	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.437A>G	17.37:g.38506145A>G	ENSP00000254066:p.Gln146Arg		Somatic				RARA_ENST00000425707.3_Intron|RARA_ENST00000394089.2_Missense_Mutation_p.Q146R|RARA_ENST00000394086.3_Missense_Mutation_p.Q162R|RARA_ENST00000394081.3_Missense_Mutation_p.Q141R	p.Q146R	NM_000964.3	NP_000955.1	WXS	Illumina GAIIx	Phase_I	P10276	RARA_HUMAN	STAD - Stomach adenocarcinoma(5;0.00143)		4	892	+		Breast(137;0.00328)	146					B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	c.437A>G	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.700325	0.48307	.	.	ENSG00000131759	ENST00000254066;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000319149	D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2	5.28	4.17	0.49024	Nuclear hormone receptor, ligand-binding (2);Zinc finger, nuclear hormone receptor-type (4);	0.120697	0.64402	D	0.000020	D	0.94637	0.8271	L	0.53729	1.69	0.58432	D	0.999998	B;B	0.18461	0.028;0.025	B;B	0.30646	0.118;0.05	D	0.91468	0.5194	10	0.62326	D	0.03	.	11.2068	0.48773	0.8457:0.1543:0.0:0.0	.	141;146	F1D8N9;P10276	.;RARA_HUMAN	R	146;146;162;141;141	ENSP00000254066:Q146R;ENSP00000377649:Q146R;ENSP00000377648:Q162R;ENSP00000377643:Q141R	ENSP00000254066:Q146R	Q	+	2	0	RARA	35759671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.332000	0.96446	0.810000	0.34279	0.533000	0.62120	CAG		0.577	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			55	9	0	0	0	1	0	55	9				
IGSF5	150084	broad.mit.edu	37	21	41142841	41142841	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:41142841A>T	ENST00000380588.4	+	4	521		c.e4-1		IGSF5_ENST00000479378.1_Splice_Site	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5						single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TTTCTTCTTTAGTTATGGGAG	0.388																																						ENST00000380588.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23						c.e4-1		immunoglobulin superfamily, member 5							47.0	45.0	46.0					21																	41142841		2203	4300	6503	SO:0001630	splice_region_variant	150084					integral to membrane|tight junction		g.chr21:41142841A>T		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.419-1A>T	21.37:g.41142841A>T			Somatic				IGSF5_ENST00000479378.1_Splice_Site		NM_001080444.1	NP_001073913.1	WXS	Illumina GAIIx	Phase_I	Q9NSI5	IGSF5_HUMAN			4	521	+		Prostate(19;5.35e-06)							Splice_Site	SNP	ENST00000380588.4	37		CCDS33562.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548062	0.65311	.	.	ENSG00000183067	ENST00000380588	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4568	0.61204	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IGSF5	40064711	0.998000	0.40836	0.918000	0.36340	0.882000	0.50991	5.040000	0.64191	2.251000	0.74343	0.528000	0.53228	.		0.388	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1		Intron	6	196	0	0	0	1	0	6	196				
DNM1P47	100216544	broad.mit.edu	37	15	102305084	102305084	+	RNA	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:102305084T>C	ENST00000561463.1	+	0	13130									DNM1 pseudogene 47																		GACATCAACATGAACACCATC	0.632																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102305084T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102305084T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	13130	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.632	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	28	0	0	0	1	0	4	28				
ACOT11	26027	broad.mit.edu	37	1	55074670	55074670	+	Intron	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:55074670A>G	ENST00000371316.3	+	15	1711				ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.Y557C	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11						fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GTTCTCAACTATGTGACCACC	0.587																																					Ovarian(148;1440 1861 22015 32453 51933)	ENST00000343744.2																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1669-1671)tAt>tGt		acyl-CoA thioesterase 11							166.0	162.0	163.0					1																	55074670		2203	4300	6503	SO:0001627	intron_variant	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55074670A>G	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.1629+929A>G	1.37:g.55074670A>G			Somatic				ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000481208.1_3'UTR	p.Y557C	NM_147161.3	NP_671517.1	WXS	Illumina GAIIx	Phase_I	Q8WXI4	ACO11_HUMAN			16	1752	+			0			START.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.1670A>G	CCDS592.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233978	0.58886	.	.	ENSG00000162390	ENST00000343744	T	0.28255	1.62	5.02	5.02	0.67125	.	.	.	.	.	T	0.56307	0.1976	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	T	0.62718	-0.6795	8	0.87932	D	0	.	15.0856	0.72148	1.0:0.0:0.0:0.0	.	557	Q8WXI4-2	.	C	557	ENSP00000340260:Y557C	ENSP00000340260:Y557C	Y	+	2	0	ACOT11	54847258	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	6.783000	0.75078	2.026000	0.59711	0.459000	0.35465	TAT		0.587	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		4	412	0	0	0	1	0	4	412				
GOLGB1	2804	broad.mit.edu	37	3	121415208	121415208	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:121415208C>T	ENST00000340645.5	-	13	4272	c.4147G>A	c.(4147-4149)Ggc>Agc	p.G1383S	GOLGB1_ENST00000393667.3_Missense_Mutation_p.G1388S	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1383					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGTTCTAGGCCAGCAATTTGT	0.423																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(4162-4164)Ggc>Agc		golgin B1							158.0	163.0	161.0					3																	121415208		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121415208C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4147G>A	3.37:g.121415208C>T	ENSP00000341848:p.Gly1383Ser		Somatic				GOLGB1_ENST00000340645.5_Missense_Mutation_p.G1383S	p.G1388S	NM_001256486.1	NP_001243415.1	WXS	Illumina GAIIx	Phase_I	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	4272	-			1383					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.4162G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304913	0.23736	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.21543	2.64;2.64;2.0	6.17	-2.33	0.06724	.	0.570134	0.17189	N	0.183568	T	0.11110	0.0271	L	0.46157	1.445	0.09310	N	1	B;B;B;B;P	0.36837	0.041;0.041;0.023;0.023;0.571	B;B;B;B;B	0.30855	0.007;0.007;0.007;0.007;0.121	T	0.37663	-0.9696	10	0.10111	T	0.7	.	6.2854	0.21031	0.0:0.3864:0.2221:0.3915	.	1308;1347;1388;1388;1383	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	S	1383;1388;1347	ENSP00000341848:G1383S;ENSP00000377275:G1388S;ENSP00000418231:G1347S	ENSP00000341848:G1383S	G	-	1	0	GOLGB1	122897898	0.083000	0.21467	0.750000	0.31169	0.523000	0.34469	0.802000	0.27069	-0.174000	0.10743	-0.150000	0.13652	GGC		0.423	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		4	238	0	0	0	1	0	4	238				
NLRP2	55655	broad.mit.edu	37	19	55505722	55505722	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:55505722C>G	ENST00000543010.1	+	11	2937	c.2794C>G	c.(2794-2796)Ctg>Gtg	p.L932V	NLRP2_ENST00000538819.1_Missense_Mutation_p.L908V|NLRP2_ENST00000339757.7_Missense_Mutation_p.L910V|NLRP2_ENST00000427260.2_Missense_Mutation_p.L909V|NLRP2_ENST00000391721.4_Missense_Mutation_p.L908V|NLRP2_ENST00000448584.2_Missense_Mutation_p.L932V|NLRP2_ENST00000263437.6_Missense_Mutation_p.L929V|NLRP2_ENST00000537859.1_Missense_Mutation_p.L910V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	932					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTGTTTGGATCTGGGGCTGAA	0.448																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(2794-2796)Ctg>Gtg		NLR family, pyrin domain containing 2							197.0	169.0	179.0					19																	55505722		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55505722C>G	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2794C>G	19.37:g.55505722C>G	ENSP00000445135:p.Leu932Val		Somatic				NLRP2_ENST00000538819.1_Missense_Mutation_p.L908V|NLRP2_ENST00000448584.2_Missense_Mutation_p.L932V|NLRP2_ENST00000427260.2_Missense_Mutation_p.L909V|NLRP2_ENST00000391721.4_Missense_Mutation_p.L908V|NLRP2_ENST00000339757.7_Missense_Mutation_p.L910V|NLRP2_ENST00000263437.6_Missense_Mutation_p.L929V|NLRP2_ENST00000537859.1_Missense_Mutation_p.L910V	p.L932V	NM_001174081.1	NP_001167552.1	WXS	Illumina GAIIx	Phase_I	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	11	2937	+			932					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.2794C>G	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848042	0.32699	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	2.48	1.39	0.22231	.	.	.	.	.	T	0.79070	0.4384	M	0.79614	2.46	0.09310	N	0.999998	D;D;D;D;D	0.69078	0.995;0.997;0.99;0.997;0.974	P;D;P;D;P	0.63877	0.831;0.919;0.831;0.919;0.638	T	0.64639	-0.6360	9	0.44086	T	0.13	.	6.3915	0.21589	0.2924:0.7076:0.0:0.0	.	909;910;929;908;932	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	V	932;908;910;932;910;909;908;929	ENSP00000445135:L932V;ENSP00000375601:L908V;ENSP00000344074:L910V;ENSP00000409370:L932V;ENSP00000440601:L910V;ENSP00000402474:L909V;ENSP00000441133:L908V;ENSP00000263437:L929V	ENSP00000263437:L929V	L	+	1	2	NLRP2	60197534	0.951000	0.32395	0.232000	0.24009	0.032000	0.12392	1.227000	0.32576	0.568000	0.29311	0.561000	0.74099	CTG		0.448	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		4	374	0	0	0	1	0	4	374				
POLQ	10721	broad.mit.edu	37	3	121187276	121187276	+	Nonsense_Mutation	SNP	G	G	A	rs369712134		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:121187276G>A	ENST00000264233.5	-	23	6849	c.6721C>T	c.(6721-6723)Cga>Tga	p.R2241*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2241					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.R2376*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGGTTATTCGTCCTAAAATC	0.333								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			1	Substitution - Nonsense(1)	p.R2376*(1)	kidney(1)	NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(6721-6723)Cga>Tga	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta		G	stop/ARG	0,4406		0,0,2203	105.0	114.0	111.0		6721	4.3	1.0	3		111	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	POLQ	NM_199420.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2241/2591	121187276	1,13005	2203	4300	6503	SO:0001587	stop_gained	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121187276G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6721C>T	3.37:g.121187276G>A	ENSP00000264233:p.Arg2241*		Somatic					p.R2241*	NM_199420.3	NP_955452.3	WXS	Illumina GAIIx	Phase_I	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	23	6849	-			2241					O95160|Q6VMB5	Nonsense_Mutation	SNP	ENST00000264233.5	37	c.6721C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	48	13.890624	0.99768	0.0	1.16E-4	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	5.25	4.35	0.52113	.	0.116303	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4323	0.75112	0.0:0.0:0.86:0.14	.	.	.	.	X	1864;2241;2377	.	ENSP00000264233:R2241X	R	-	1	2	POLQ	122669966	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	3.716000	0.54904	1.542000	0.49330	0.655000	0.94253	CGA		0.333	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		80	27	0	0	0	1	0	80	27				
INTS2	57508	broad.mit.edu	37	17	60004006	60004006	+	Silent	SNP	T	T	G	rs371963660		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:60004006T>G	ENST00000444766.3	-	2	99	c.24A>C	c.(22-24)atA>atC	p.I8I	INTS2_ENST00000251334.6_5'UTR	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	8					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)		p.I8I(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						ATTCAGTCATTATTACTGTTT	0.358																																						ENST00000444766.3																			1	Substitution - coding silent(1)	p.I8I(1)	kidney(1)	NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(22-24)atA>atC		integrator complex subunit 2							51.0	48.0	49.0					17																	60004006		1873	4107	5980	SO:0001819	synonymous_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:60004006T>G	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.24A>C	17.37:g.60004006T>G			Somatic				INTS2_ENST00000251334.6_5'UTR	p.I8I	NM_020748.2	NP_065799.1	WXS	Illumina GAIIx	Phase_I	Q9H0H0	INT2_HUMAN			2	99	-			8					Q9ULD3	Silent	SNP	ENST00000444766.3	37	c.24A>C	CCDS45750.1																																																																																				0.358	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		37	6	0	0	0	1	0	37	6				
CCHCR1	54535	broad.mit.edu	37	6	31111166	31111166	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:31111166C>A	ENST00000376266.5	-	16	2047	c.1925G>T	c.(1924-1926)cGc>cTc	p.R642L	CCHCR1_ENST00000396268.3_Missense_Mutation_p.R731L|CCHCR1_ENST00000451521.2_Missense_Mutation_p.R695L|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R589L	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	642					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R731L(1)|p.R642L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GGCGGCTCTGCGCTGAATCTG	0.647																																						ENST00000396268.3																			2	Substitution - Missense(2)	p.R731L(1)|p.R642L(1)	kidney(2)	breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(2191-2193)cGc>cTc		coiled-coil alpha-helical rod protein 1							45.0	52.0	49.0					6																	31111166		1510	2708	4218	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31111166C>A	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1925G>T	6.37:g.31111166C>A	ENSP00000365442:p.Arg642Leu		Somatic				CCHCR1_ENST00000376266.5_Missense_Mutation_p.R642L|CCHCR1_ENST00000451521.2_Missense_Mutation_p.R695L|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R589L	p.R731L	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	WXS	Illumina GAIIx	Phase_I	Q8TD31	CCHCR_HUMAN			16	2380	-			642					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.2192G>T	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545784	0.45280	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.04156	3.69;3.69;3.69;3.69	5.18	1.45	0.22620	.	0.313587	0.30076	N	0.010478	T	0.02807	0.0084	M	0.66939	2.045	0.28703	N	0.903943	P;P;P;P	0.48503	0.837;0.837;0.911;0.804	P;B;P;B	0.46172	0.506;0.402;0.506;0.203	T	0.38993	-0.9635	10	0.38643	T	0.18	-1.344	6.9753	0.24672	0.0:0.6304:0.0:0.3696	.	642;642;695;731	B4DIA2;Q8TD31;E9PE84;Q8TD31-2	.;CCHCR_HUMAN;.;.	L	731;642;589;642;695	ENSP00000379566:R731L;ENSP00000365442:R642L;ENSP00000379561:R589L;ENSP00000401039:R695L	ENSP00000365442:R642L	R	-	2	0	CCHCR1	31219145	1.000000	0.71417	0.840000	0.33206	0.570000	0.35934	0.461000	0.21940	0.081000	0.16988	-0.275000	0.10095	CGC		0.647	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		26	21	1	0	3.57733e-08	1	3.70566e-08	26	21				
SYNRG	11276	broad.mit.edu	37	17	35879057	35879057	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:35879057G>T	ENST00000339208.6	-	22	4071	c.3931C>A	c.(3931-3933)Cct>Act	p.P1311T	SYNRG_ENST00000394378.2_Missense_Mutation_p.P1256T|SYNRG_ENST00000585472.1_Missense_Mutation_p.P1232T|SYNRG_ENST00000346661.4_Missense_Mutation_p.P1299T|SYNRG_ENST00000591288.1_Missense_Mutation_p.P1105T|SYNRG_ENST00000502449.2_Missense_Mutation_p.P1176T|SYNRG_ENST00000345615.4_Missense_Mutation_p.P1221T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1311					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGCAGGTCAGGCAGGACGAGG	0.522																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(3931-3933)Cct>Act		synergin, gamma							176.0	169.0	171.0					17																	35879057		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35879057G>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3931C>A	17.37:g.35879057G>T	ENSP00000343610:p.Pro1311Thr		Somatic				SYNRG_ENST00000591288.1_Missense_Mutation_p.P1105T|SYNRG_ENST00000585472.1_Missense_Mutation_p.P1232T|SYNRG_ENST00000502449.2_Missense_Mutation_p.P1176T|SYNRG_ENST00000394378.2_Missense_Mutation_p.P1256T|SYNRG_ENST00000346661.4_Missense_Mutation_p.P1299T|SYNRG_ENST00000345615.4_Missense_Mutation_p.P1221T	p.P1311T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	WXS	Illumina GAIIx	Phase_I	Q9UMZ2	SYNRG_HUMAN			22	4071	-			1311					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.3931C>A	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004670	0.93287	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T	0.56941	1.19;0.43	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.71929	0.3398	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.999;0.999;0.997;0.998;0.998	T	0.74103	-0.3773	10	0.87932	D	0	-13.2312	19.2675	0.93996	0.0:0.0:1.0:0.0	.	1105;1233;1256;1221;1299;1311	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	T	1311;1105;1299;1221;1256	ENSP00000343610:P1105T;ENSP00000377903:P1256T	ENSP00000343610:P1105T	P	-	1	0	SYNRG	32953170	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.869000	0.99810	2.573000	0.86826	0.655000	0.94253	CCT		0.522	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		14	327	1	0	1.05317e-09	1	1.09834e-09	14	327				
HIST2H2BF	440689	broad.mit.edu	37	1	149783718	149783718	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:149783718C>T	ENST00000369167.1	-	1	196	c.161G>A	c.(160-162)gGc>gAc	p.G54D	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000427880.2_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000469483.1_5'UTR	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	54					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G54D(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					GGACGAGATGCCGGTGTCGGG	0.597																																						ENST00000427880.2																			2	Substitution - Missense(2)	p.G54D(2)	prostate(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(160-162)gGc>gAc		histone cluster 2, H2bf							157.0	145.0	149.0					1																	149783718		2203	4297	6500	SO:0001583	missense	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783718C>T	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.161G>A	1.37:g.149783718C>T	ENSP00000358164:p.Gly54Asp		Somatic				HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000469483.1_5'UTR	p.G54D			WXS	Illumina GAIIx	Phase_I	Q5QNW6	H2B2F_HUMAN			1	207	-	Breast(34;0.0124)|all_hematologic(923;0.127)		54					A8K0U9|B4DLA9	Missense_Mutation	SNP	ENST00000369167.1	37	c.161G>A	CCDS30846.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056130	0.93793	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	T;T;T	0.69435	-0.4;-0.4;-0.4	3.52	3.52	0.40303	Histone-fold (2);Histone core (1);	0.000000	0.49305	D	0.000147	D	0.86810	0.6022	H	0.98487	4.245	0.53688	D	0.999974	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.81914	0.995;0.99;0.964	D	0.91519	0.5233	10	0.87932	D	0	.	14.9173	0.70807	0.0:1.0:0.0:0.0	.	54;54;54	B4DR52;B4DLA9;Q5QNW6	.;.;H2B2F_HUMAN	D	54	ENSP00000445831:G54D;ENSP00000407461:G54D;ENSP00000358164:G54D	ENSP00000358164:G54D	G	-	2	0	HIST2H2BF	148050342	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.994000	0.76251	2.283000	0.76528	0.184000	0.17185	GGC		0.597	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	NM_001024599		6	813	0	0	0	1	0	6	813				
LCN1	3933	broad.mit.edu	37	9	138413417	138413417	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:138413417A>G	ENST00000263598.2	+	1	134	c.74A>G	c.(73-75)gAc>gGc	p.D25G	LCN1_ENST00000371781.3_Missense_Mutation_p.D25G	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	25					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.D25G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		CTGGCCTCAGACGAGGAGATT	0.662																																						ENST00000263598.2																			1	Substitution - Missense(1)	p.D25G(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13						c.(73-75)gAc>gGc		lipocalin 1							20.0	20.0	20.0					9																	138413417		2202	4296	6498	SO:0001583	missense	3933				proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	g.chr9:138413417A>G		CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"""Lipocalins"""	6525	protein-coding gene	gene with protein product	"""Von Ebner gland protein"", ""tear lipocalin"", ""lipocalin 1-like 2"", ""tear prealbumin"""	151675	"""lipocalin 1 (protein migrating faster than albumin, tear prealbumin)"", ""lipocalin 1 (tear prealbumin)"""			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.74A>G	9.37:g.138413417A>G	ENSP00000263598:p.Asp25Gly		Somatic				LCN1_ENST00000371781.3_Missense_Mutation_p.D25G	p.D25G	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	WXS	Illumina GAIIx	Phase_I	P31025	LCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)	1	134	+		Myeloproliferative disorder(178;0.0511)	25					Q5T8A1	Missense_Mutation	SNP	ENST00000263598.2	37	c.74A>G	CCDS6991.1	.	.	.	.	.	.	.	.	.	.	A	0.619	-0.822076	0.02755	.	.	ENSG00000160349	ENST00000263598;ENST00000371781	T;T	0.13089	2.62;2.62	2.78	-2.07	0.07276	Calycin-like (1);Calycin (1);	2.201110	0.01857	N	0.036341	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.29912	-0.9996	10	0.40728	T	0.16	.	3.2679	0.06871	0.4627:0.218:0.3193:0.0	.	25	P31025	LCN1_HUMAN	G	25	ENSP00000263598:D25G;ENSP00000360846:D25G	ENSP00000263598:D25G	D	+	2	0	LCN1	137553238	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.298000	0.02756	-0.338000	0.08413	-0.937000	0.02696	GAC		0.662	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297		17	9	0	0	0	1	0	17	9				
ESYT1	23344	broad.mit.edu	37	12	56527596	56527596	+	Missense_Mutation	SNP	G	G	A	rs112882931	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:56527596G>A	ENST00000394048.5	+	13	1676	c.1412G>A	c.(1411-1413)cGa>cAa	p.R471Q	ESYT1_ENST00000541590.1_Missense_Mutation_p.R471Q|ESYT1_ENST00000267113.4_Missense_Mutation_p.R471Q	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	471	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GTCTCCTCTCGACCAGATCCC	0.552													G|||	10	0.00199681	0.0076	0.0	5008	,	,		17857	0.0		0.0	False		,,,				2504	0.0					ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(1411-1413)cGa>cAa		extended synaptotagmin-like protein 1		G	GLN/ARG,GLN/ARG	8,4398	14.3+/-33.2	0,8,2195	111.0	106.0	108.0		1412,1412	2.6	1.0	12	dbSNP_132	108	0,8600		0,0,4300	yes	missense,missense	ESYT1	NM_001184796.1,NM_015292.2	43,43	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	probably-damaging,probably-damaging	471/1115,471/1105	56527596	8,12998	2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56527596G>A	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1412G>A	12.37:g.56527596G>A	ENSP00000377612:p.Arg471Gln		Somatic				ESYT1_ENST00000267113.4_Missense_Mutation_p.R471Q|ESYT1_ENST00000541590.1_Missense_Mutation_p.R471Q	p.R471Q	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	WXS	Illumina GAIIx	Phase_I	Q9BSJ8	ESYT1_HUMAN			13	1676	+			471			C2 2.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.1412G>A	CCDS8904.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.18	2.161648	0.38119	0.001816	0.0	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.55413	0.52;0.54;0.54	5.39	2.57	0.30868	.	0.844932	0.10631	N	0.652182	T	0.37705	0.1013	L	0.34521	1.04	0.29055	N	0.884231	B;B	0.12013	0.005;0.004	B;B	0.12156	0.007;0.002	T	0.32824	-0.9892	10	0.13853	T	0.58	-1.5011	7.9868	0.30216	0.3274:0.0:0.6726:0.0	.	471;471	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	Q	471;425;471;471	ENSP00000377612:R471Q;ENSP00000267113:R471Q;ENSP00000445952:R471Q	ENSP00000267113:R471Q	R	+	2	0	ESYT1	54813863	0.863000	0.29885	0.959000	0.39883	0.961000	0.63080	1.332000	0.33805	0.352000	0.24053	0.563000	0.77884	CGA		0.552	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		5	200	0	0	0	1	0	5	200				
NFIL3	4783	broad.mit.edu	37	9	94172340	94172340	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:94172340T>C	ENST00000297689.3	-	2	1071	c.677A>G	c.(676-678)gAg>gGg	p.E226G		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	226					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TGTGTAGCTCTCTAATTCCAT	0.488																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(676-678)gAg>gGg		nuclear factor, interleukin 3 regulated							114.0	111.0	112.0					9																	94172340		2203	4300	6503	SO:0001583	missense	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172340T>C	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.677A>G	9.37:g.94172340T>C	ENSP00000297689:p.Glu226Gly		Somatic					p.E226G	NM_005384.2	NP_005375.2	WXS	Illumina GAIIx	Phase_I	Q16649	NFIL3_HUMAN			2	1071	-			226					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.677A>G	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	T	3.054	-0.194702	0.06259	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.5	4.5	0.54988	Vertebrate interleukin-3 regulated transcription factor (1);	0.075936	0.53938	D	0.000056	T	0.55033	0.1895	L	0.48642	1.525	0.47123	D	0.999323	B	0.09022	0.002	B	0.14023	0.01	T	0.52668	-0.8545	9	0.33940	T	0.23	-38.8255	13.9702	0.64235	0.0:0.0:0.0:1.0	.	226	Q16649	NFIL3_HUMAN	G	226	.	ENSP00000297689:E226G	E	-	2	0	NFIL3	93212161	1.000000	0.71417	0.115000	0.21578	0.045000	0.14185	4.324000	0.59228	1.902000	0.55061	0.459000	0.35465	GAG		0.488	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		7	502	0	0	0	1	0	7	502				
OR4A47	403253	broad.mit.edu	37	11	48511107	48511107	+	Missense_Mutation	SNP	A	A	T	rs200616857		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:48511107A>T	ENST00000446524.1	+	1	839	c.763A>T	c.(763-765)Atg>Ttg	p.M255L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTGTATTTTTATGTATGCTAG	0.428																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(763-765)Atg>Ttg		olfactory receptor, family 4, subfamily A, member 47							213.0	206.0	208.0					11																	48511107		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511107A>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.763A>T	11.37:g.48511107A>T	ENSP00000412752:p.Met255Leu		Somatic					p.M255L	NM_001005512.2	NP_001005512.2	WXS	Illumina GAIIx	Phase_I	Q6IF82	O4A47_HUMAN			1	839	+			255						Missense_Mutation	SNP	ENST00000446524.1	37	c.763A>T	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	2.307	-0.358736	0.05138	.	.	ENSG00000237388	ENST00000446524	T	0.00115	8.71	4.59	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.173909	0.40728	N	0.001040	T	0.00109	0.0003	N	0.16790	0.44	0.09310	N	1	B	0.19331	0.035	B	0.20955	0.032	T	0.04216	-1.0968	10	0.17369	T	0.5	.	8.5275	0.33313	0.9019:0.0:0.0981:0.0	.	255	Q6IF82	O4A47_HUMAN	L	255	ENSP00000412752:M255L	ENSP00000412752:M255L	M	+	1	0	OR4A47	48467683	0.000000	0.05858	0.998000	0.56505	0.282000	0.26991	0.172000	0.16704	1.692000	0.51112	0.172000	0.16884	ATG		0.428	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		11	1082	0	0	0	1	0	11	1082				
ATXN7L2	127002	broad.mit.edu	37	1	110030243	110030243	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:110030243G>A	ENST00000369870.3	+	5	532	c.517G>A	c.(517-519)Ggg>Agg	p.G173R		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	173										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CAGCCAGCCAGGGGGCCTCAC	0.577																																						ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(517-519)Ggg>Agg		ataxin 7-like 2							72.0	78.0	76.0					1																	110030243		2203	4300	6503	SO:0001583	missense	127002							g.chr1:110030243G>A	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.517G>A	1.37:g.110030243G>A	ENSP00000358886:p.Gly173Arg		Somatic					p.G173R	NM_153340.4	NP_699171.3	WXS	Illumina GAIIx	Phase_I	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	5	532	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	173						Missense_Mutation	SNP	ENST00000369870.3	37	c.517G>A	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430365	0.43122	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.30981	1.51	5.46	4.54	0.55810	.	0.211286	0.33572	N	0.004762	T	0.08179	0.0204	N	0.14661	0.345	0.09310	N	0.999991	B	0.22909	0.077	B	0.34180	0.177	T	0.17715	-1.0360	10	0.25106	T	0.35	-4.1469	7.4977	0.27498	0.0865:0.0:0.7503:0.1632	.	173	Q5T6C5	AT7L2_HUMAN	R	173	ENSP00000358886:G173R	ENSP00000358886:G173R	G	+	1	0	ATXN7L2	109831766	0.001000	0.12720	0.159000	0.22649	0.863000	0.49368	0.586000	0.23894	2.552000	0.86080	0.655000	0.94253	GGG		0.577	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		4	215	0	0	0	1	0	4	215				
RALGAPB	57148	broad.mit.edu	37	20	37209983	37209983	+	IGR	SNP	A	A	T	rs535611431		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:37209983A>T	ENST00000262879.6	+	0	8661				ADIG_ENST00000537425.1_Missense_Mutation_p.L25F|ADIG_ENST00000373348.3_Missense_Mutation_p.L30F			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)						activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGCTGTTGTTATTGATCATCT	0.522																																						ENST00000537425.1																			0				endometrium(1)|kidney(1)	2						c.(73-75)ttA>ttT		adipogenin							184.0	186.0	185.0					20																	37209983		1963	4155	6118	SO:0001628	intergenic_variant	149685				brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation	cytoplasm|integral to membrane|nucleus		g.chr20:37209983A>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270		20.37:g.37209983A>T			Somatic				ADIG_ENST00000373348.3_Missense_Mutation_p.L30F	p.L25F	NM_001018082.1	NP_001018092.1	WXS	Illumina GAIIx	Phase_I	Q0VDE8	ADIG_HUMAN			1	146	+		Myeloproliferative disorder(115;0.00878)	30					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.75A>T	CCDS13305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.655|8.655	0.899197|0.899197	0.17686|0.17686	.|.	.|.	ENSG00000182035|ENSG00000182035	ENST00000537425;ENST00000373348|ENST00000416116	.|.	.|.	.|.	5.15|5.15	-2.89|-2.89	0.05665|0.05665	.|.	0.316889|.	0.17464|.	N|.	0.173339|.	T|T	0.21509|0.21509	0.0518|0.0518	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.22746|.	0.074|.	B|.	0.23574|.	0.047|.	T|T	0.31696|0.31696	-0.9934|-0.9934	8|4	0.39692|.	T|.	0.17|.	-0.1377|-0.1377	4.6641|4.6641	0.12657|0.12657	0.4966:0.0:0.3517:0.1517|0.4966:0.0:0.3517:0.1517	.|.	30|.	Q0VDE8|.	ADIG_HUMAN|.	F|F	25;30|12	.|.	ENSP00000362445:L30F|.	L|Y	+|+	3|2	2|0	ADIG|ADIG	36643397|36643397	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.133000|-0.133000	0.10451|0.10451	-0.229000|-0.229000	0.09854|0.09854	-0.177000|-0.177000	0.13119|0.13119	TTA|TAT		0.522	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		4	289	0	0	0	1	0	4	289				
ANXA4	307	broad.mit.edu	37	2	70045736	70045736	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:70045736G>A	ENST00000394295.4	+	10	882	c.634G>A	c.(634-636)Gat>Aat	p.D212N	ANXA4_ENST00000536030.1_Missense_Mutation_p.D128N|ANXA4_ENST00000409920.1_Missense_Mutation_p.D190N	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	210					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)	p.D212N(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						TGCAGTGTTTGATGAATACAA	0.338																																						ENST00000394295.4																			1	Substitution - Missense(1)	p.D212N(1)	kidney(1)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(634-636)Gat>Aat		annexin A4							100.0	99.0	100.0					2																	70045736		2203	4300	6503	SO:0001583	missense	307				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr2:70045736G>A	M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"""Annexins"""	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.634G>A	2.37:g.70045736G>A	ENSP00000377833:p.Asp212Asn		Somatic				ANXA4_ENST00000409920.1_Missense_Mutation_p.D190N|ANXA4_ENST00000536030.1_Missense_Mutation_p.D128N	p.D212N	NM_001153.3	NP_001144.1	WXS	Illumina GAIIx	Phase_I	P09525	ANXA4_HUMAN			10	882	+			210					B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP	ENST00000394295.4	37	c.634G>A	CCDS1894.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077017	0.76415	.	.	ENSG00000196975	ENST00000409920;ENST00000394295;ENST00000536030	T;T;T	0.03242	4.0;4.0;4.0	5.75	5.75	0.90469	Annexin repeat, conserved site (1);	0.242098	0.47852	D	0.000201	T	0.07369	0.0186	L	0.39085	1.19	0.58432	D	0.999997	P;B;P	0.39576	0.679;0.016;0.679	P;B;P	0.46940	0.532;0.034;0.532	T	0.47886	-0.9082	9	.	.	.	.	17.4171	0.87504	0.0:0.0:1.0:0.0	.	210;190;212	P09525;Q6P452;Q6LES2	ANXA4_HUMAN;.;.	N	190;212;128	ENSP00000386756:D190N;ENSP00000377833:D212N;ENSP00000441931:D128N	.	D	+	1	0	ANXA4	69899240	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.446000	0.52928	2.704000	0.92352	0.591000	0.81541	GAT		0.338	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2	NM_001153		65	127	0	0	0	1	0	65	127				
THSD7A	221981	broad.mit.edu	37	7	11485944	11485944	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:11485944A>T	ENST00000423059.4	-	13	3059	c.2808T>A	c.(2806-2808)agT>agA	p.S936R	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	936	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTTCTTTTTACTTTTTCCTG	0.338										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(2806-2808)agT>agA		thrombospondin, type I, domain containing 7A							127.0	124.0	125.0					7																	11485944		1798	4072	5870	SO:0001583	missense	221981					integral to membrane		g.chr7:11485944A>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2808T>A	7.37:g.11485944A>T	ENSP00000406482:p.Ser936Arg	HNSCC(18;0.044)	Somatic				AC004538.3_ENST00000445839.1_RNA	p.S936R	NM_015204.2	NP_056019.1	WXS	Illumina GAIIx	Phase_I	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	13	3059	-			936			TSP type-1 9.			Missense_Mutation	SNP	ENST00000423059.4	37	c.2808T>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	A	19.97	3.925251	0.73213	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.61040	0.14	5.74	0.842	0.18927	.	0.035332	0.85682	D	0.000000	T	0.68979	0.3060	M	0.75615	2.305	0.58432	D	0.99999	D	0.71674	0.998	D	0.77557	0.99	T	0.65450	-0.6165	10	0.24483	T	0.36	.	9.7422	0.40424	0.7303:0.0:0.2697:0.0	.	936	Q9UPZ6	THS7A_HUMAN	R	936	ENSP00000406482:S936R	ENSP00000262042:S936R	S	-	3	2	THSD7A	11452469	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	0.480000	0.22244	0.432000	0.26286	0.482000	0.46254	AGT		0.338	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		6	311	0	0	0	1	0	6	311				
ARID1A	8289	broad.mit.edu	37	1	27087903	27087903	+	Silent	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:27087903T>C	ENST00000324856.7	+	6	2561	c.2190T>C	c.(2188-2190)agT>agC	p.S730S	ARID1A_ENST00000374152.2_Silent_p.S347S|ARID1A_ENST00000457599.2_Silent_p.S730S|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	730					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.P728fs(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCCACCCAGTGGCCAGTCGG	0.532			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	1	Complex(1)	p.P728fs(1)	liver(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(2188-2190)agT>agC		AT rich interactive domain 1A (SWI-like)							79.0	75.0	77.0					1																	27087903		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27087903T>C	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2190T>C	1.37:g.27087903T>C			Somatic				ARID1A_ENST00000457599.2_Silent_p.S730S|ARID1A_ENST00000374152.2_Silent_p.S347S	p.S730S	NM_006015.4	NP_006006.3	WXS	Illumina GAIIx	Phase_I	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	6	2561	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	730					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.2190T>C	CCDS285.1																																																																																				0.532	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		3	254	0	0	0	1	0	3	254				
NUDT16	131870	broad.mit.edu	37	3	131102114	131102114	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:131102114G>A	ENST00000521288.1	+	3	548	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	NUDT16_ENST00000359850.3_Missense_Mutation_p.E140K|RP11-933H2.4_ENST00000502521.1_RNA|NUDT16_ENST00000537561.1_Missense_Mutation_p.E127K|NUDT16_ENST00000502852.1_3'UTR			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	173	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				adenosine to inosine editing (GO:0006382)|dephosphorylation (GO:0016311)|dITP catabolic process (GO:0035863)|IDP catabolic process (GO:0046709)|mRNA catabolic process (GO:0006402)|negative regulation of rRNA processing (GO:2000233)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|snoRNA catabolic process (GO:0016077)|XDP catabolic process (GO:1901639)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cobalt ion binding (GO:0050897)|dIDP diphosphatase activity (GO:0097383)|dITP diphosphatase activity (GO:0035870)|GTP binding (GO:0005525)|inosine-diphosphatase activity (GO:0090450)|ITP binding (GO:1901641)|m7G(5')pppN diphosphatase activity (GO:0050072)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)|mRNA binding (GO:0003729)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|protein homodimerization activity (GO:0042803)|snoRNA binding (GO:0030515)|XTP binding (GO:1901640)			large_intestine(1)|lung(6)	7						GCAGTTACTTGAAGCTCTCCA	0.552																																						ENST00000359850.3																			0				large_intestine(1)|lung(6)	7						c.(418-420)Gaa>Aaa		nudix (nucleoside diphosphate linked moiety X)-type motif 16							103.0	91.0	95.0					3																	131102114		2203	4300	6503	SO:0001583	missense	131870					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding	g.chr3:131102114G>A	AK055827	CCDS3070.1, CCDS3070.2, CCDS54640.1, CCDS54641.1	3q21.3	2005-01-25						"""Nudix motif containing"""	26442	protein-coding gene	gene with protein product						12477932	Standard	NM_152395		Approved	FLJ31265	uc021xec.1	Q96DE0		ENST00000521288.1:c.517G>A	3.37:g.131102114G>A	ENSP00000429274:p.Glu173Lys		Somatic				NUDT16_ENST00000537561.1_Missense_Mutation_p.E127K|NUDT16_ENST00000521288.1_Missense_Mutation_p.E173K|NUDT16_ENST00000502852.1_3'UTR	p.E140K	NM_152395.2	NP_689608.2	WXS	Illumina GAIIx	Phase_I	Q96DE0	NUD16_HUMAN			3	557	+			173			Nudix hydrolase.		B4E3B4|E9PED4|F5GYJ1|Q96N82	Missense_Mutation	SNP	ENST00000521288.1	37	c.418G>A	CCDS3070.2	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298717	0.23650	.	.	ENSG00000198585	ENST00000537561;ENST00000359850;ENST00000521288	T;T;T	0.42900	0.96;0.96;0.96	2.85	2.85	0.33270	NUDIX hydrolase domain (1);NUDIX hydrolase domain-like (1);	0.955832	0.08608	U	0.920449	T	0.28830	0.0715	L	0.48642	1.525	0.35897	D	0.830121	P	0.46656	0.882	B	0.32022	0.139	T	0.40194	-0.9576	10	0.29301	T	0.29	-12.5192	7.2593	0.26193	0.0:0.0:0.7364:0.2636	.	173	Q96DE0	NUD16_HUMAN	K	127;140;173	ENSP00000440230:E127K;ENSP00000352911:E140K;ENSP00000429274:E173K	ENSP00000352911:E140K	E	+	1	0	NUDT16	132584804	1.000000	0.71417	0.998000	0.56505	0.515000	0.34225	2.314000	0.43743	1.887000	0.54652	0.491000	0.48974	GAA		0.552	NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356537.9	NM_152395		4	54	0	0	0	1	0	4	54				
F5	2153	broad.mit.edu	37	1	169499033	169499033	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:169499033C>T	ENST00000367797.3	-	16	5433	c.5232G>A	c.(5230-5232)ttG>ttA	p.L1744L	F5_ENST00000367796.3_Silent_p.L1749L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1744	F5/8 type A 3.|Plastocyanin-like 5.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGGGACCTATCAAGCCTGAGT	0.373																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(5245-5247)ttG>ttA		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						126.0	125.0	125.0					1																	169499033		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169499033C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.5232G>A	1.37:g.169499033C>T			Somatic				F5_ENST00000367797.3_Silent_p.L1744L	p.L1749L			WXS	Illumina GAIIx	Phase_I	P12259	FA5_HUMAN			16	5448	-	all_hematologic(923;0.208)		1744		L -> V (in dbSNP:rs6034).	F5/8 type A 3.|Plastocyanin-like 5.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.5247G>A	CCDS1281.1																																																																																				0.373	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		5	258	0	0	0	1	0	5	258				
CNTNAP4	85445	broad.mit.edu	37	16	76486590	76486590	+	Silent	SNP	C	C	A	rs151315964		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:76486590C>A	ENST00000476707.1	+	7	1405	c.1266C>A	c.(1264-1266)atC>atA	p.I422I	CNTNAP4_ENST00000307431.8_Silent_p.I418I|CNTNAP4_ENST00000377504.4_Silent_p.I370I|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.I346I			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	419	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.I394M(1)|p.I346M(1)|p.I418M(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGGGGGTATCCTCCTCTTTC	0.458																																						ENST00000307431.8																			3	Substitution - Missense(3)	p.I394M(1)|p.I346M(1)|p.I418M(1)	lung(3)	breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(1252-1254)atC>atA		contactin associated protein-like 4							73.0	73.0	73.0					16																	76486590		2198	4300	6498	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76486590C>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1266C>A	16.37:g.76486590C>A			Somatic				CNTNAP4_ENST00000476707.1_Silent_p.I422I|CNTNAP4_ENST00000377504.4_Silent_p.I370I|CNTNAP4_ENST00000478060.1_Silent_p.I346I|CNTNAP4_ENST00000469589.1_3'UTR	p.I418I	NM_033401.3	NP_207837.2	WXS	Illumina GAIIx	Phase_I	Q9C0A0	CNTP4_HUMAN			9	1639	+			419			Laminin G-like 2.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.1254C>A																																																																																					0.458	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		7	133	1	0	0.000274275	1	0.000281589	7	133				
ESPL1	9700	broad.mit.edu	37	12	53684167	53684167	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:53684167A>T	ENST00000257934.4	+	24	5369	c.5278A>T	c.(5278-5280)Atc>Ttc	p.I1760F	ESPL1_ENST00000552462.1_Missense_Mutation_p.I1760F	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1760					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.I1760F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GTTTGATGCCATCCAGAAGGC	0.547																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			1	Substitution - Missense(1)	p.I1760F(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(5278-5280)Atc>Ttc		extra spindle pole bodies homolog 1 (S. cerevisiae)							128.0	111.0	116.0					12																	53684167		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53684167A>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5278A>T	12.37:g.53684167A>T	ENSP00000257934:p.Ile1760Phe		Somatic				ESPL1_ENST00000552462.1_Missense_Mutation_p.I1760F	p.I1760F	NM_012291.4	NP_036423.4	WXS	Illumina GAIIx	Phase_I	Q14674	ESPL1_HUMAN			24	5369	+			1760						Missense_Mutation	SNP	ENST00000257934.4	37	c.5278A>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568623	0.86439	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.15603	2.41;2.41	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	M	0.82823	2.61	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.50583	-0.8811	10	0.87932	D	0	.	14.5491	0.68054	1.0:0.0:0.0:0.0	.	1760	Q14674	ESPL1_HUMAN	F	1760;1435;1760	ENSP00000257934:I1760F;ENSP00000449831:I1760F	ENSP00000257934:I1760F	I	+	1	0	ESPL1	51970434	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	4.875000	0.63072	2.277000	0.76020	0.528000	0.53228	ATC		0.547	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		70	138	0	0	0	1	0	70	138				
MLLT4	4301	broad.mit.edu	37	6	168289893	168289893	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:168289893A>T	ENST00000447894.2	+	7	897		c.e7-1		MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site|MLLT4_ENST00000366806.2_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000400822.3_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTGTTTTTTTAGGTTATGCTT	0.328			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.e7-1		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							83.0	86.0	85.0					6																	168289893		2203	4296	6499	SO:0001630	splice_region_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168289893A>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.898-1A>T	6.37:g.168289893A>T			Somatic				MLLT4_ENST00000400822.3_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site|MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000447894.2_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	7	1039	+		Breast(66;1.07e-05)|Ovarian(120;0.024)						O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Splice_Site	SNP	ENST00000447894.2	37			.	.	.	.	.	.	.	.	.	.	A	12.90	2.075334	0.36662	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894;ENST00000423229	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3734	0.74584	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLLT4	168032742	1.000000	0.71417	0.720000	0.30636	0.289000	0.27227	6.951000	0.75983	2.028000	0.59812	0.533000	0.62120	.		0.328	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	Intron	6	112	0	0	0	1	0	6	112				
PNMA1	9240	broad.mit.edu	37	14	74179821	74179821	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:74179821C>T	ENST00000316836.3	-	1	1307	c.522G>A	c.(520-522)gaG>gaA	p.E174E		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	174					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		caaaggtttcctctccaggcc	0.493																																						ENST00000316836.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13						c.(520-522)gaG>gaA		paraneoplastic Ma antigen 1							48.0	49.0	49.0					14																	74179821		2202	4300	6502	SO:0001819	synonymous_variant	9240				apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding	g.chr14:74179821C>T	AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.522G>A	14.37:g.74179821C>T			Somatic					p.E174E	NM_006029.4	NP_006020.4	WXS	Illumina GAIIx	Phase_I	Q8ND90	PNMA1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)	1	1307	-			174					A8K4L5|O95144|Q8NG07	Silent	SNP	ENST00000316836.3	37	c.522G>A	CCDS9818.1																																																																																				0.493	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1	NM_006029		4	58	0	0	0	1	0	4	58				
ATP5B	506	broad.mit.edu	37	12	57033957	57033957	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:57033957T>C	ENST00000262030.3	-	8	1144	c.1094A>G	c.(1093-1095)gAt>gGt	p.D365G	ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Missense_Mutation_p.D354G	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	365					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)	p.D365G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGTCAAGTCATCAGCAGGCAC	0.483																																						ENST00000262030.3																			1	Substitution - Missense(1)	p.D365G(1)	kidney(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1093-1095)gAt>gGt		ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide							119.0	105.0	110.0					12																	57033957		2203	4300	6503	SO:0001583	missense	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57033957T>C	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1094A>G	12.37:g.57033957T>C	ENSP00000262030:p.Asp365Gly		Somatic				ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Missense_Mutation_p.D354G	p.D365G	NM_001686.3	NP_001677.2	WXS	Illumina GAIIx	Phase_I	P06576	ATPB_HUMAN			8	1144	-			365					A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	c.1094A>G	CCDS8924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.27|18.27	3.587272|3.587272	0.66105|0.66105	.|.	.|.	ENSG00000110955|ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000551570|ENST00000552959	T;T;T|.	0.76060|.	-0.99;-0.99;-0.99|.	5.77|5.77	5.77|5.77	0.91146|0.91146	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78910|.	0.4358|.	M|M	0.86178|0.86178	2.8|2.8	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.81468|.	-0.0919|.	10|.	0.87932|.	D|.	0|.	-33.2737|-33.2737	15.0783|15.0783	0.72093|0.72093	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	365|.	P06576|.	ATPB_HUMAN|.	G|W	365;354;109|301	ENSP00000262030:D365G;ENSP00000450297:D354G;ENSP00000448428:D109G|.	ENSP00000262030:D365G|.	D|X	-|-	2|3	0|0	ATP5B|ATP5B	55320224|55320224	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.871000|7.871000	0.87180|0.87180	2.199000|2.199000	0.70637|0.70637	0.533000|0.533000	0.62120|0.62120	GAT|TGA		0.483	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		50	96	0	0	0	1	0	50	96				
FAM3C	10447	broad.mit.edu	37	7	121023056	121023056	+	De_novo_Start_OutOfFrame	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:121023056A>C	ENST00000359943.3	-	0	181					NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C						multicellular organismal development (GO:0007275)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	cytokine activity (GO:0005125)			kidney(1)|lung(8)	9	all_neural(327;0.117)					ACTTTTCATTAATATGCTCCT	0.303																																						ENST00000359943.3																			0				kidney(1)|lung(8)	9								family with sequence similarity 3, member C							62.0	66.0	65.0					7																	121023056		2201	4287	6488			10447				multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity	g.chr7:121023056A>C	D87120	CCDS5782.1	7q22.1-q31.1	2014-08-14			ENSG00000196937	ENSG00000196937			18664	protein-coding gene	gene with protein product	"""predicted osteoblast protein"", ""interleukin-like EMT inducer"", ""interleukin-like epithelial-mesenchymal transition inducer"""	608618				12160727	Standard	NM_014888		Approved	GS3876, ILEI	uc010lkm.3	Q92520	OTTHUMG00000156979	ENST00000359943.3:c.-33T>G	7.37:g.121023056A>C			Somatic						NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	WXS	Illumina GAIIx	Phase_I	Q92520	FAM3C_HUMAN			0	181	-	all_neural(327;0.117)							A6NDN2|A8K3R7	Translation_Start_Site	SNP	ENST00000359943.3	37		CCDS5782.1																																																																																				0.303	FAM3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346945.1	NM_001040020		16	28	0	0	0	1	0	16	28				
SLIT2	9353	broad.mit.edu	37	4	20552448	20552448	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:20552448A>T	ENST00000504154.1	+	25	2741		c.e25-1		SLIT2_ENST00000509394.2_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000273739.5_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCTTTCTTTTAGTTCTCTACA	0.313																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.e25-1		slit homolog 2 (Drosophila)							126.0	119.0	122.0					4																	20552448		2202	4300	6502	SO:0001630	splice_region_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20552448A>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2490-1A>T	4.37:g.20552448A>T			Somatic				SLIT2_ENST00000503823.1_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000509394.2_Splice_Site|SLIT2_ENST00000273739.5_Splice_Site		NM_004787.1	NP_004778.1	WXS	Illumina GAIIx	Phase_I	O94813	SLIT2_HUMAN			25	2741	+								B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Splice_Site	SNP	ENST00000504154.1	37		CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.275572	0.59649	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLIT2	20161546	1.000000	0.71417	0.916000	0.36221	0.476000	0.33039	9.200000	0.95010	2.367000	0.80283	0.528000	0.53228	.		0.313	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		Intron	5	106	0	0	0	1	0	5	106				
NFE2L2	4780	broad.mit.edu	37	2	178096592	178096592	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:178096592G>A	ENST00000397062.3	-	5	1293	c.739C>T	c.(739-741)Ctt>Ttt	p.L247F	NFE2L2_ENST00000446151.2_Missense_Mutation_p.L224F|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L231F|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L231F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	247					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAAGCATTAAGAAAATGTGGA	0.403			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		0				central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(739-741)Ctt>Ttt		nuclear factor, erythroid 2-like 2							123.0	112.0	116.0					2																	178096592		1880	4122	6002	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178096592G>A		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.739C>T	2.37:g.178096592G>A	ENSP00000380252:p.Leu247Phe	HNSCC(56;0.16)	Somatic				NFE2L2_ENST00000464747.1_Missense_Mutation_p.L231F|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L224F|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L231F	p.L247F	NM_006164.4	NP_006155.2	WXS	Illumina GAIIx	Phase_I	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	1293	-			247					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.739C>T	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733755	0.48939	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000430047;ENST00000421929	T;T;T;T;T;T	0.58652	2.15;2.14;2.15;1.76;0.32;1.25	6.17	4.31	0.51392	.	0.274240	0.42420	D	0.000719	T	0.58337	0.2115	M	0.74881	2.28	0.80722	D	1	P;P	0.46706	0.808;0.883	P;P	0.45037	0.467;0.467	T	0.59757	-0.7394	10	0.56958	D	0.05	-8.5384	6.8663	0.24094	0.0661:0.1292:0.6701:0.1346	.	224;247	E9PGJ7;Q16236	.;NF2L2_HUMAN	F	231;247;224;231;44;231	ENSP00000380253:L231F;ENSP00000380252:L247F;ENSP00000411575:L224F;ENSP00000400073:L231F;ENSP00000391291:L44F;ENSP00000412191:L231F	ENSP00000380252:L247F	L	-	1	0	NFE2L2	177804838	1.000000	0.71417	0.969000	0.41365	0.927000	0.56198	2.822000	0.48073	0.874000	0.35823	0.655000	0.94253	CTT		0.403	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		10	121	0	0	0	1	0	10	121				
EPHA10	284656	broad.mit.edu	37	1	38189012	38189012	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:38189012G>A	ENST00000373048.4	-	9	1804	c.1805C>T	c.(1804-1806)gCc>gTc	p.A602V	EPHA10_ENST00000427468.2_Missense_Mutation_p.A602V|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.A97V|EPHA10_ENST00000540011.1_Missense_Mutation_p.A97V	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	602					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTCATCATGGGCATCCCCTCC	0.622																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1804-1806)gCc>gTc		EPH receptor A10							76.0	78.0	78.0					1																	38189012		2043	4173	6216	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38189012G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1805C>T	1.37:g.38189012G>A	ENSP00000362139:p.Ala602Val		Somatic				EPHA10_ENST00000427468.2_Missense_Mutation_p.A602V|EPHA10_ENST00000330210.7_Missense_Mutation_p.A97V|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_Missense_Mutation_p.A97V	p.A602V	NM_001099439.1	NP_001092909.1	WXS	Illumina GAIIx	Phase_I	Q5JZY3	EPHAA_HUMAN			9	1804	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	602					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.1805C>T	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199335	0.58126	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	4.58	3.64	0.41730	.	0.276138	0.19508	N	0.112568	T	0.11367	0.0277	M	0.61703	1.905	0.24994	N	0.991519	P	0.38978	0.652	B	0.33960	0.173	T	0.14117	-1.0484	10	0.35671	T	0.21	.	10.8713	0.46885	0.0:0.4478:0.5521:0.0	.	602	Q5JZY3	EPHAA_HUMAN	V	97;602;97;602	ENSP00000330379:A97V;ENSP00000397746:A602V;ENSP00000441822:A97V;ENSP00000362139:A602V	ENSP00000330379:A97V	A	-	2	0	EPHA10	37961599	0.998000	0.40836	0.804000	0.32291	0.748000	0.42578	3.752000	0.55172	2.114000	0.64651	0.313000	0.20887	GCC		0.622	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		3	91	0	0	0	1	0	3	91				
IGF2BP1	10642	broad.mit.edu	37	17	47119732	47119732	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:47119732C>A	ENST00000290341.3	+	9	1404	c.1070C>A	c.(1069-1071)gCc>gAc	p.A357D	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A218D	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	357	Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GATGTGGCTGCCATGAGCGTG	0.542																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1069-1071)gCc>gAc		insulin-like growth factor 2 mRNA binding protein 1							96.0	95.0	96.0					17																	47119732		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47119732C>A	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1070C>A	17.37:g.47119732C>A	ENSP00000290341:p.Ala357Asp		Somatic				IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A218D	p.A357D	NM_006546.3	NP_006537.3	WXS	Illumina GAIIx	Phase_I	Q9NZI8	IF2B1_HUMAN			9	1404	+			357			Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.1070C>A	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953610	0.73902	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.33216	2.17;1.42	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	M	0.68317	2.08	0.80722	D	1	D;B	0.54601	0.967;0.114	D;B	0.65874	0.939;0.094	T	0.53012	-0.8498	10	0.56958	D	0.05	-24.2664	19.5457	0.95295	0.0:1.0:0.0:0.0	.	218;357	C9JT33;Q9NZI8	.;IF2B1_HUMAN	D	357;218	ENSP00000290341:A357D;ENSP00000389135:A218D	ENSP00000290341:A357D	A	+	2	0	IGF2BP1	44474731	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.685000	0.84117	2.763000	0.94921	0.655000	0.94253	GCC		0.542	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		3	65	1	0	1	1	1	3	65				
N4BP2	55728	broad.mit.edu	37	4	40123363	40123363	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:40123363C>T	ENST00000261435.6	+	9	4048	c.3632C>T	c.(3631-3633)cCt>cTt	p.P1211L		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1211					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GCTGTCACTCCTGAAAACCAT	0.418																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(3631-3633)cCt>cTt		NEDD4 binding protein 2							72.0	72.0	72.0					4																	40123363		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40123363C>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3632C>T	4.37:g.40123363C>T	ENSP00000261435:p.Pro1211Leu		Somatic					p.P1211L	NM_018177.4	NP_060647.2	WXS	Illumina GAIIx	Phase_I	Q86UW6	N4BP2_HUMAN			9	4048	+			1211					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.3632C>T	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	C	6.854	0.526884	0.13066	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.16897	2.31	5.62	4.77	0.60923	.	0.540515	0.17007	N	0.190647	T	0.12433	0.0302	N	0.19112	0.55	0.43222	D	0.995101	B;B	0.22146	0.065;0.039	B;B	0.21708	0.036;0.016	T	0.07462	-1.0771	10	0.45353	T	0.12	-2.1315	12.2497	0.54591	0.0:0.9223:0.0:0.0777	.	1211;1211	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	L	1211;1131	ENSP00000261435:P1211L	ENSP00000261435:P1211L	P	+	2	0	N4BP2	39799758	0.081000	0.21417	0.903000	0.35520	0.071000	0.16799	0.146000	0.16180	2.656000	0.90262	0.563000	0.77884	CCT		0.418	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		5	100	0	0	0	1	0	5	100				
COL6A3	1293	broad.mit.edu	37	2	238244811	238244811	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:238244811C>T	ENST00000295550.4	-	40	9384	c.8932G>A	c.(8932-8934)Gct>Act	p.A2978T	COL6A3_ENST00000346358.4_Missense_Mutation_p.A2778T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2772T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2371T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2777T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2772T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2978	Ala-rich.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A2978T(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGGTGGCAGCTGGTTTGGCT	0.587																																						ENST00000295550.4																			1	Substitution - Missense(1)	p.A2978T(1)	kidney(1)	breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(8932-8934)Gct>Act		collagen, type VI, alpha 3							39.0	36.0	37.0					2																	238244811		2036	4009	6045	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238244811C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8932G>A	2.37:g.238244811C>T	ENSP00000295550:p.Ala2978Thr		Somatic				COL6A3_ENST00000353578.4_Missense_Mutation_p.A2772T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2777T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2778T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2772T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2371T	p.A2978T	NM_004369.3	NP_004360.2	WXS	Illumina GAIIx	Phase_I	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	40	9384	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2978			Ala-rich.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.8932G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	7.713	0.695595	0.15106	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.90069	-2.61;-2.48;-2.48;-2.56;-2.48;-2.46	4.86	2.91	0.33838	.	0.597758	0.13535	N	0.380693	D	0.84442	0.5473	L	0.55834	1.745	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.74453	-0.3660	10	0.45353	T	0.12	.	7.4679	0.27332	0.0:0.7097:0.1856:0.1047	.	2371;2772;2978	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	T	2978;2777;2772;2371;2772;2778	ENSP00000295550:A2978T;ENSP00000315609:A2777T;ENSP00000315873:A2772T;ENSP00000418285:A2371T;ENSP00000386844:A2772T;ENSP00000295546:A2778T	ENSP00000295550:A2978T	A	-	1	0	COL6A3	237909550	0.000000	0.05858	0.014000	0.15608	0.504000	0.33889	-0.537000	0.06128	1.032000	0.39892	0.563000	0.77884	GCT		0.587	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		22	68	0	0	0	1	0	22	68				
GPR112	139378	broad.mit.edu	37	X	135441449	135441449	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:135441449A>T	ENST00000394143.1	+	11	7271		c.e11-1		GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Splice_Site|GPR112_ENST00000412101.1_Splice_Site|GPR112_ENST00000370652.1_Splice_Site	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTGCTTTGTAGTTGTGTTTG	0.373																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.e11-1		G protein-coupled receptor 112							155.0	147.0	150.0					X																	135441449		2203	4299	6502	SO:0001630	splice_region_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135441449A>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6981-1A>T	X.37:g.135441449A>T			Somatic				GPR112_ENST00000412101.1_Splice_Site|GPR112_ENST00000394141.1_Splice_Site|GPR112_ENST00000370652.1_Splice_Site|GPR112_ENST00000287534.4_Intron		NM_153834.3	NP_722576.3	WXS	Illumina GAIIx	Phase_I	Q8IZF6	GP112_HUMAN			11	7271	+	Acute lymphoblastic leukemia(192;0.000127)							A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Splice_Site	SNP	ENST00000394143.1	37		CCDS35409.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486662	0.26686	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000394141	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5242	0.50569	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR112	135269115	0.992000	0.36948	0.890000	0.34922	0.067000	0.16453	4.125000	0.57931	1.994000	0.58287	0.486000	0.48141	.		0.373	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		Intron	5	368	0	0	0	1	0	5	368				
AHNAK2	113146	broad.mit.edu	37	14	105421823	105421823	+	Missense_Mutation	SNP	C	C	T	rs267603898		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:105421823C>T	ENST00000333244.5	-	5	582	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	155	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGGCACCTTCTCTCAAGTTA	0.582																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(463-465)Gaa>Aaa		AHNAK nucleoprotein 2							74.0	81.0	78.0					14																	105421823		1993	4165	6158	SO:0001583	missense	113146					nucleus		g.chr14:105421823C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.463G>A	14.37:g.105421823C>T	ENSP00000353114:p.Glu155Lys		Somatic					p.E155K	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		5	582	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	155			PDZ.		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.463G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	18.49	3.634447	0.67130	.	.	ENSG00000185567	ENST00000333244	T	0.03524	3.9	4.72	3.83	0.44106	PDZ/DHR/GLGF (3);	0.185425	0.39210	U	0.001429	T	0.08802	0.0218	L	0.49256	1.55	0.25122	N	0.99064	D	0.56521	0.976	P	0.54060	0.741	T	0.04041	-1.0982	10	0.87932	D	0	.	11.2184	0.48840	0.0:0.9152:0.0:0.0848	.	155	Q8IVF2	AHNK2_HUMAN	K	155	ENSP00000353114:E155K	ENSP00000353114:E155K	E	-	1	0	AHNAK2	104492868	0.835000	0.29415	0.998000	0.56505	0.543000	0.35085	1.058000	0.30504	1.213000	0.43380	0.650000	0.86243	GAA		0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		10	32	0	0	0	1	0	10	32				
ZNF565	147929	broad.mit.edu	37	19	36674268	36674268	+	Silent	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:36674268A>G	ENST00000355114.5	-	5	1446	c.720T>C	c.(718-720)tgT>tgC	p.C240C	ZNF565_ENST00000304116.5_Silent_p.C200C|ZNF565_ENST00000392173.2_Silent_p.C200C			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AGGCCTTCCCACATTCCTTAC	0.468																																						ENST00000355114.5																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(718-720)tgT>tgC		zinc finger protein 565							90.0	80.0	83.0					19																	36674268		2203	4300	6503	SO:0001819	synonymous_variant	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36674268A>G	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.720T>C	19.37:g.36674268A>G			Somatic				ZNF565_ENST00000392173.2_Silent_p.C200C|ZNF565_ENST00000304116.5_Silent_p.C200C	p.C240C			WXS	Illumina GAIIx	Phase_I	Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	1446	-	Esophageal squamous(110;0.162)		200					B3KQ35|Q6NUS2	Silent	SNP	ENST00000355114.5	37	c.720T>C																																																																																					0.468	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		8	180	0	0	0	1	0	8	180				
UBP1	7342	broad.mit.edu	37	3	33434899	33434899	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:33434899G>A	ENST00000283629.3	-	14	1967	c.1438C>T	c.(1438-1440)Cga>Tga	p.R480*	UBP1_ENST00000283628.5_Nonsense_Mutation_p.R480*|UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000447368.2_Nonsense_Mutation_p.R444*	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	480					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						GCAAGTTTTCGAGCAACTTCT	0.353																																						ENST00000283629.3																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(1438-1440)Cga>Tga		upstream binding protein 1 (LBP-1a)							80.0	79.0	79.0					3																	33434899		2203	4300	6503	SO:0001587	stop_gained	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33434899G>A	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.1438C>T	3.37:g.33434899G>A	ENSP00000283629:p.Arg480*		Somatic				UBP1_ENST00000447368.2_Nonsense_Mutation_p.R444*|UBP1_ENST00000283628.5_Nonsense_Mutation_p.R480*|UBP1_ENST00000486388.1_5'UTR	p.R480*	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	WXS	Illumina GAIIx	Phase_I	Q9NZI7	UBIP1_HUMAN			14	1967	-			480					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Nonsense_Mutation	SNP	ENST00000283629.3	37	c.1438C>T	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	G	39	7.534764	0.98342	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	.	.	.	5.89	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-5.2433	11.9868	0.53153	0.0:0.1315:0.7315:0.1369	.	.	.	.	X	480;444;480	.	ENSP00000283628:R480X	R	-	1	2	UBP1	33409903	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.326000	0.43849	1.480000	0.48289	0.557000	0.71058	CGA		0.353	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		3	57	0	0	0	1	0	3	57				
RGL1	23179	broad.mit.edu	37	1	183816775	183816775	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:183816775G>T	ENST00000360851.3	+	3	392	c.214G>T	c.(214-216)Ggc>Tgc	p.G72C	RGL1_ENST00000536277.1_Missense_Mutation_p.G70C|RGL1_ENST00000539189.1_Missense_Mutation_p.G72C|RGL1_ENST00000304685.4_Missense_Mutation_p.G107C			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	72	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CATAAAAGCTGGCACCTTGGA	0.443																																						ENST00000304685.3																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(319-321)Ggc>Tgc		ral guanine nucleotide dissociation stimulator-like 1							167.0	170.0	169.0					1																	183816775		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183816775G>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.214G>T	1.37:g.183816775G>T	ENSP00000354097:p.Gly72Cys		Somatic				RGL1_ENST00000367531.1_Missense_Mutation_p.G107C|RGL1_ENST00000536277.1_Missense_Mutation_p.G70C|RGL1_ENST00000360851.3_Missense_Mutation_p.G72C|RGL1_ENST00000539189.1_Missense_Mutation_p.G72C	p.G107C	NM_015149.3	NP_055964.3	WXS	Illumina GAIIx	Phase_I	Q9NZL6	RGL1_HUMAN			4	780	+			72			N-terminal Ras-GEF.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.319G>T		.	.	.	.	.	.	.	.	.	.	G	27.5	4.838816	0.91117	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	5.61	5.61	0.85477	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.75221	-0.3394	10	0.87932	D	0	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	72;70;72;107	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	C	107;107;70;72;72	ENSP00000303192:G107C;ENSP00000356501:G107C;ENSP00000438662:G70C;ENSP00000354097:G72C;ENSP00000437355:G72C	ENSP00000303192:G107C	G	+	1	0	RGL1	182083398	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.184000	0.94893	2.793000	0.96121	0.655000	0.94253	GGC		0.443	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		18	486	1	0	4.63292e-17	1	4.88678e-17	18	486				
MTMR3	8897	broad.mit.edu	37	22	30415933	30415933	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:30415933C>T	ENST00000401950.2	+	17	2627	c.2285C>T	c.(2284-2286)tCa>tTa	p.S762L	CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.S762L|MTMR3_ENST00000406629.1_Missense_Mutation_p.S762L|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.S626L|MTMR3_ENST00000351488.3_Missense_Mutation_p.S762L	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	762					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CCTCTGTTCTCACAGGGCATT	0.577																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(2284-2286)tCa>tTa		myotubularin related protein 3							80.0	80.0	80.0					22																	30415933		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30415933C>T	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2285C>T	22.37:g.30415933C>T	ENSP00000384651:p.Ser762Leu		Somatic				CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.S762L|MTMR3_ENST00000401950.2_Missense_Mutation_p.S762L|MTMR3_ENST00000351488.3_Missense_Mutation_p.S762L|MTMR3_ENST00000323630.5_Missense_Mutation_p.S626L	p.S762L	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	WXS	Illumina GAIIx	Phase_I	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	2613	+			762					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.2285C>T	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	C	5.600	0.295377	0.10622	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.93189	-2.98;-2.96;-3.18;-3.01;-2.96	4.81	3.73	0.42828	.	3.024400	0.00873	N	0.002054	D	0.87791	0.6266	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.003;0.001;0.003	T	0.75379	-0.3338	10	0.72032	D	0.01	.	8.1021	0.30863	0.0:0.7391:0.1651:0.0958	.	762;762;762	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	L	762;762;626;762;762	ENSP00000384651:S762L;ENSP00000331649:S762L;ENSP00000318070:S626L;ENSP00000307271:S762L;ENSP00000384077:S762L	ENSP00000318070:S626L	S	+	2	0	MTMR3	28745933	0.116000	0.22171	0.898000	0.35279	0.174000	0.22865	2.690000	0.47001	2.494000	0.84150	0.462000	0.41574	TCA		0.577	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		41	169	0	0	0	1	0	41	169				
SETMAR	6419	broad.mit.edu	37	3	4355104	4355104	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:4355104G>A	ENST00000358065.4	+	2	746	c.679G>A	c.(679-681)Gag>Aag	p.E227K	SETMAR_ENST00000430981.1_Missense_Mutation_p.E227K|SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	227	Histone-lysine N-methyltransferase.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TCATTCTTGTGAGCCAAACCT	0.378								Chromatin Structure																														ENST00000358065.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9						c.(679-681)Gag>Aag	Chromatin Structure	SET domain and mariner transposase fusion gene							86.0	86.0	86.0					3																	4355104		2203	4300	6503	SO:0001583	missense	6419				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding	g.chr3:4355104G>A	U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.679G>A	3.37:g.4355104G>A	ENSP00000373354:p.Glu227Lys		Somatic				SETMAR_ENST00000430981.1_Missense_Mutation_p.E227K|SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Intron	p.E227K	NM_006515.3	NP_006506.3	WXS	Illumina GAIIx	Phase_I	Q53H47	SETMR_HUMAN		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)	2	746	+		Melanoma(143;0.0657)	214			Histone-lysine N-methyltransferase.|SET.		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	ENST00000358065.4	37	c.679G>A	CCDS2563.2	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480666	0.63849	.	.	ENSG00000170364	ENST00000358065;ENST00000430981	D;D	0.89875	-2.58;-2.58	5.17	5.17	0.71159	SET domain (3);	.	.	.	.	D	0.91720	0.7382	L	0.54965	1.715	0.80722	D	1	D;P	0.54207	0.965;0.932	P;P	0.55545	0.778;0.555	D	0.92556	0.6054	9	0.72032	D	0.01	.	18.6997	0.91615	0.0:0.0:1.0:0.0	.	214;227	Q53H47;C9JHK2	SETMR_HUMAN;.	K	227	ENSP00000373354:E227K;ENSP00000403000:E227K	ENSP00000373354:E227K	E	+	1	0	SETMAR	4330104	1.000000	0.71417	0.994000	0.49952	0.185000	0.23345	3.503000	0.53340	2.393000	0.81446	0.650000	0.86243	GAG		0.378	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515		5	54	0	0	0	1	0	5	54				
TUBA4A	7277	broad.mit.edu	37	2	220116808	220116808	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:220116808T>G	ENST00000248437.4	-	2	321	c.148A>C	c.(148-150)Acc>Ccc	p.T50P	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Missense_Mutation_p.T35P|TUBA4A_ENST00000498660.1_Intron	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	50					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.T50P(1)|p.T35P(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	AAGAAGGTGGTGAAGGAGTCG	0.542																																						ENST00000392088.2																			2	Substitution - Missense(2)	p.T50P(1)|p.T35P(1)	kidney(2)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(103-105)Acc>Ccc		tubulin, alpha 4a							96.0	81.0	86.0					2																	220116808		2203	4300	6503	SO:0001583	missense	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220116808T>G	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.148A>C	2.37:g.220116808T>G	ENSP00000248437:p.Thr50Pro		Somatic				TUBA4A_ENST00000248437.4_Missense_Mutation_p.T50P|TUBA4A_ENST00000498660.1_Intron	p.T35P	NM_001278552.1	NP_001265481.1	WXS	Illumina GAIIx	Phase_I	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	658	-		Renal(207;0.0474)	50					A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	c.103A>C	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.207333	0.39003	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000427737;ENST00000456818;ENST00000447205;ENST00000425551	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.31	4.31	0.51392	Tubulin/FtsZ, GTPase domain (4);	0.065363	0.64402	D	0.000016	T	0.65207	0.2669	L	0.58583	1.82	0.58432	D	0.999999	B	0.21071	0.051	B	0.28784	0.094	T	0.67734	-0.5594	10	0.87932	D	0	.	13.9316	0.63998	0.0:0.0:0.0:1.0	.	50	P68366	TBA4A_HUMAN	P	50;35;35;73;35;52	ENSP00000248437:T50P;ENSP00000375938:T35P;ENSP00000408194:T35P;ENSP00000416992:T73P;ENSP00000396061:T35P;ENSP00000404740:T52P	ENSP00000248437:T50P	T	-	1	0	TUBA4A	219825052	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.131000	0.71670	1.942000	0.56320	0.459000	0.35465	ACC		0.542	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		62	136	0	0	0	1	0	62	136				
NSMAF	8439	broad.mit.edu	37	8	59506794	59506794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:59506794G>A	ENST00000038176.3	-	23	2160	c.1948C>T	c.(1948-1950)Caa>Taa	p.Q650*	NSMAF_ENST00000427130.2_Nonsense_Mutation_p.Q681*	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	650					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CACTGACCTTGGGATGTTGTG	0.428																																						ENST00000038176.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(1948-1950)Caa>Taa		neutral sphingomyelinase (N-SMase) activation associated factor							121.0	114.0	116.0					8																	59506794		2203	4300	6503	SO:0001587	stop_gained	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59506794G>A	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1948C>T	8.37:g.59506794G>A	ENSP00000038176:p.Gln650*		Somatic				NSMAF_ENST00000427130.2_Nonsense_Mutation_p.Q681*	p.Q650*	NM_003580.3	NP_003571.2	WXS	Illumina GAIIx	Phase_I	Q92636	FAN_HUMAN			23	2160	-		all_lung(136;0.174)|Lung NSC(129;0.2)	650					B4DFB0|E9PCH0|Q8IW26	Nonsense_Mutation	SNP	ENST00000038176.3	37	c.1948C>T	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	G	39	7.881694	0.98542	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	.	.	.	5.83	5.83	0.93111	.	0.054881	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1072	0.93301	0.0:0.0:1.0:0.0	.	.	.	.	X	650;681	.	.	Q	-	1	0	NSMAF	59669348	1.000000	0.71417	0.971000	0.41717	0.172000	0.22775	6.589000	0.74080	2.763000	0.94921	0.555000	0.69702	CAA		0.428	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		42	104	0	0	0	1	0	42	104				
VWA3B	200403	broad.mit.edu	37	2	98736074	98736074	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:98736074C>T	ENST00000477737.1	+	4	594	c.390C>T	c.(388-390)agC>agT	p.S130S	VWA3B_ENST00000435344.1_Silent_p.S130S|VWA3B_ENST00000451075.2_Intron	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	130										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCAGCAAGAGCCGGCAGATTT	0.493																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(388-390)agC>agT		von Willebrand factor A domain containing 3B							159.0	155.0	156.0					2																	98736074		1967	4148	6115	SO:0001819	synonymous_variant	200403							g.chr2:98736074C>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.390C>T	2.37:g.98736074C>T			Somatic				VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Silent_p.S130S	p.S130S	NM_144992.4	NP_659429.4	WXS	Illumina GAIIx	Phase_I	Q502W6	VWA3B_HUMAN			4	594	+			130					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	37	c.390C>T	CCDS42718.1																																																																																				0.493	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		4	332	0	0	0	1	0	4	332				
DCAF17	80067	broad.mit.edu	37	2	172314880	172314880	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:172314880A>T	ENST00000375255.3	+	8	1059		c.e8-1		DCAF17_ENST00000539783.1_Splice_Site|DCAF17_ENST00000468592.1_Intron	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTTTGTTTTTAGTTCATGCAA	0.358																																						ENST00000375255.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						c.e8-1		DDB1 and CUL4 associated factor 17							94.0	89.0	91.0					2																	172314880		1853	4098	5951	SO:0001630	splice_region_variant	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172314880A>T	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.733-1A>T	2.37:g.172314880A>T			Somatic				DCAF17_ENST00000539783.1_Splice_Site|DCAF17_ENST00000468592.1_Intron		NM_025000.3	NP_079276.2	WXS	Illumina GAIIx	Phase_I	Q5H9S7	DCA17_HUMAN			8	1059	+								B2RTW5|Q53TN3|Q9H908	Splice_Site	SNP	ENST00000375255.3	37		CCDS2243.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984850	0.74474	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6994	0.77533	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF17	172023126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.803000	0.75180	2.192000	0.70111	0.477000	0.44152	.		0.358	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000	Intron	11	140	0	0	0	1	0	11	140				
DDX24	57062	broad.mit.edu	37	14	94521373	94521373	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:94521373G>A	ENST00000330836.5	-	7	2278	c.2147C>T	c.(2146-2148)cCc>cTc	p.P716L	DDX24_ENST00000555054.1_Missense_Mutation_p.P673L|DDX24_ENST00000544005.1_Missense_Mutation_p.P466L	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	716	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TGTCTGCACGGGGAACAGTGG	0.458																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(2146-2148)cCc>cTc		DEAD (Asp-Glu-Ala-Asp) box helicase 24							335.0	309.0	318.0					14																	94521373		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94521373G>A	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.2147C>T	14.37:g.94521373G>A	ENSP00000328690:p.Pro716Leu		Somatic				DDX24_ENST00000555054.1_Missense_Mutation_p.P673L|DDX24_ENST00000544005.1_Missense_Mutation_p.P466L	p.P716L	NM_020414.3	NP_065147.1	WXS	Illumina GAIIx	Phase_I	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	7	2278	-		all_cancers(154;0.12)	716			Helicase C-terminal.		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.2147C>T	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227924	0.58777	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.04275	3.75;3.66;3.76	5.58	5.58	0.84498	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.18841	0.0452	L	0.49513	1.565	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.00066	-1.2144	10	0.87932	D	0	-10.0443	19.5725	0.95427	0.0:0.0:1.0:0.0	.	716	Q9GZR7	DDX24_HUMAN	L	716;466;661;342;673;673	ENSP00000328690:P716L;ENSP00000440623:P466L;ENSP00000452145:P673L	ENSP00000328690:P716L	P	-	2	0	DDX24	93591126	1.000000	0.71417	0.988000	0.46212	0.011000	0.07611	9.776000	0.99001	2.613000	0.88420	0.655000	0.94253	CCC		0.458	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		10	1288	0	0	0	1	0	10	1288				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240794	39240794	+	Silent	SNP	C	C	A	rs9894106|rs553572799	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:39240794C>A	ENST00000391417.4	+	1	336	c.336C>A	c.(334-336)ccC>ccA	p.P112P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	137	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R111_C115delRPSCC(1)|p.P112P(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gctgccgccccagctgctgcc	0.667																																						ENST00000391417.4																			3	Unknown(1)|Substitution - coding silent(1)|Deletion - In frame(1)	p.R111_C115delRPSCC(1)|p.P112P(1)|p.?(1)	NS(2)|prostate(1)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(334-336)ccC>ccA		keratin associated protein 4-7							13.0	14.0	14.0					17																	39240794		691	1589	2280	SO:0001819	synonymous_variant	100132476							g.chr17:39240794C>A	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.336C>A	17.37:g.39240794C>A			Somatic					p.P112P	NM_033061.3	NP_149050.3	WXS	Illumina GAIIx	Phase_I					1	336	+								A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	37	c.336C>A	CCDS45673.1																																																																																				0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			5	6	1	0	5.4927e-09	1	5.70254e-09	5	6				
HIST1H2BD	3017	broad.mit.edu	37	6	26158616	26158616	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:26158616C>T	ENST00000289316.2	+	1	243	c.219C>T	c.(217-219)cgC>cgT	p.R73R	HIST1H2BD_ENST00000377777.4_Silent_p.R73R	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	73					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TCTTCGAGCGCATCGCAGGCG	0.597																																						ENST00000289316.2																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						c.(217-219)cgC>cgT		histone cluster 1, H2bd							152.0	147.0	149.0					6																	26158616		2203	4300	6503	SO:0001819	synonymous_variant	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158616C>T	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.219C>T	6.37:g.26158616C>T			Somatic				HIST1H2BD_ENST00000377777.4_Silent_p.R73R	p.R73R	NM_138720.2	NP_619790.1	WXS	Illumina GAIIx	Phase_I	P58876	H2B1D_HUMAN			1	243	+			73						Silent	SNP	ENST00000289316.2	37	c.219C>T	CCDS4587.1																																																																																				0.597	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		81	512	0	0	0	1	0	81	512				
TP53	7157	broad.mit.edu	37	17	7579591	7579591	+	Splice_Site	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:7579591C>T	ENST00000269305.4	-	4	286		c.e4-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAAGGGGGACTGTAGATGGG	0.592		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(1)	bone(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|pancreas(3)|upper_aerodigestive_tract(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CS971912	TP53	S		c.e4-1	Other conserved DNA damage response genes	tumor protein p53							141.0	137.0	138.0					17																	7579591		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579591C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.97-1G>A	17.37:g.7579591C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	229	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	6.702	0.498192	0.12762	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	2.49	2.49	0.30216	.	.	.	.	.	.	.	.	.	.	.	0.40380	D	0.979434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6143	0.33822	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520316	0.879000	0.30193	0.021000	0.16686	0.027000	0.11550	1.937000	0.40193	1.730000	0.51580	0.561000	0.74099	.		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	7	851	0	0	0	1	0	7	851				
PADI3	51702	broad.mit.edu	37	1	17575702	17575702	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:17575702G>A	ENST00000375460.3	+	1	110	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	24					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGCTGGCGTGGAGACCCTCGT	0.612																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(70-72)Gag>Aag		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						152.0	129.0	137.0					1																	17575702		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17575702G>A	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.70G>A	1.37:g.17575702G>A	ENSP00000364609:p.Glu24Lys		Somatic					p.E24K	NM_016233.2	NP_057317.2	WXS	Illumina GAIIx	Phase_I	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	1	110	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	24					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.70G>A	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701630	0.88924	.	.	ENSG00000142619	ENST00000375460	T	0.11063	2.81	5.56	5.56	0.83823	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	0.245457	0.37761	N	0.001956	T	0.31513	0.0799	M	0.73598	2.24	0.44995	D	0.998012	D	0.69078	0.997	D	0.79108	0.992	T	0.01349	-1.1378	10	0.24483	T	0.36	-35.986	15.0247	0.71659	0.0:0.0:1.0:0.0	.	24	Q9ULW8	PADI3_HUMAN	K	24	ENSP00000364609:E24K	ENSP00000364609:E24K	E	+	1	0	PADI3	17448289	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.126000	0.64721	2.627000	0.88993	0.561000	0.74099	GAG		0.612	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			28	211	0	0	0	1	0	28	211				
CDC14A	8556	broad.mit.edu	37	1	100843100	100843100	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:100843100A>T	ENST00000336454.3	+	3	495		c.e3-1		AC104457.1_ENST00000401248.1_RNA|CDC14A_ENST00000370125.2_Splice_Site|CDC14A_ENST00000361544.6_Splice_Site|CDC14A_ENST00000542213.1_Splice_Site|CDC14A_ENST00000370124.3_Splice_Site|CDC14A_ENST00000544534.1_Splice_Site	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A						cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CTTGTATCTTAGTTTCTATGC	0.279																																						ENST00000370125.2																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.e3-1		cell division cycle 14A							79.0	75.0	76.0					1																	100843100		2203	4299	6502	SO:0001630	splice_region_variant	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100843100A>T	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.141-1A>T	1.37:g.100843100A>T			Somatic				CDC14A_ENST00000336454.3_Splice_Site|CDC14A_ENST00000544534.1_Splice_Site|CDC14A_ENST00000361544.6_Splice_Site|CDC14A_ENST00000542213.1_Splice_Site|CDC14A_ENST00000370124.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	3	628	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)						A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Splice_Site	SNP	ENST00000336454.3	37		CCDS769.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130672	0.77549	.	.	ENSG00000079335	ENST00000455467;ENST00000370125;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.832	0.70156	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDC14A	100615688	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	8.378000	0.90144	2.149000	0.67028	0.374000	0.22700	.		0.279	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312	Intron	5	101	0	0	0	1	0	5	101				
EFCAB5	374786	broad.mit.edu	37	17	28405393	28405393	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:28405393G>T	ENST00000394835.3	+	15	3090	c.2898G>T	c.(2896-2898)gaG>gaT	p.E966D	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E842D	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	966							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ATGCTTTAGAGAGGAGCCACA	0.463																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(2896-2898)gaG>gaT		EF-hand calcium binding domain 5							120.0	116.0	117.0					17																	28405393		1897	4126	6023	SO:0001583	missense	374786						calcium ion binding	g.chr17:28405393G>T	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2898G>T	17.37:g.28405393G>T	ENSP00000378312:p.Glu966Asp		Somatic				EFCAB5_ENST00000320856.5_Missense_Mutation_p.E842D|EFCAB5_ENST00000394832.2_Intron	p.E966D	NM_198529.3	NP_940931.2	WXS	Illumina GAIIx	Phase_I	A4FU69	EFCB5_HUMAN			15	3090	+			966					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.2898G>T	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	8.056	0.767094	0.15983	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.11712	2.75;2.78;2.77	4.89	-1.47	0.08772	GAF (1);	0.544123	0.16208	N	0.224599	T	0.12263	0.0298	M	0.75264	2.295	0.09310	N	0.999999	B;P	0.52316	0.019;0.952	B;P	0.45610	0.015;0.487	T	0.10894	-1.0610	10	0.42905	T	0.14	-1.1801	2.3146	0.04195	0.3997:0.1203:0.3596:0.1204	.	842;966	E7EVS9;A4FU69	.;EFCB5_HUMAN	D	966;842;648	ENSP00000378312:E966D;ENSP00000322003:E842D;ENSP00000417009:E648D	ENSP00000322003:E842D	E	+	3	2	EFCAB5	25429519	0.016000	0.18221	0.014000	0.15608	0.000000	0.00434	-0.074000	0.11450	-0.558000	0.06118	-3.727000	0.00023	GAG		0.463	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		6	313	1	0	2.0095e-06	1	2.07693e-06	6	313				
OR1L1	26737	broad.mit.edu	37	9	125424612	125424612	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:125424612C>T	ENST00000373686.1	+	1	768	c.768C>T	c.(766-768)gtC>gtT	p.V256V	OR1L1_ENST00000309623.1_Silent_p.V206V			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V256V(1)		breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GCTTGGCTGTCATAATGACCC	0.398																																						ENST00000373686.1																			1	Substitution - coding silent(1)	p.V256V(1)	kidney(1)	breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						c.(766-768)gtC>gtT		olfactory receptor, family 1, subfamily L, member 1							191.0	188.0	189.0					9																	125424612		2203	4300	6503	SO:0001819	synonymous_variant	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125424612C>T		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.768C>T	9.37:g.125424612C>T			Somatic					p.V256V			WXS	Illumina GAIIx	Phase_I	Q8NH94	OR1L1_HUMAN			1	768	+			256					Q5T7Z3|Q6IFN2	Silent	SNP	ENST00000373686.1	37	c.768C>T																																																																																					0.398	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				470	249	0	0	0	1	0	470	249				
RB1CC1	9821	broad.mit.edu	37	8	53569339	53569339	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:53569339A>T	ENST00000025008.5	-	15	3573	c.3050T>A	c.(3049-3051)tTa>tAa	p.L1017*	RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.L1017*|RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.L1017*|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1017					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTCCTTTTTTAATTCCTCCAA	0.338																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(3049-3051)tTa>tAa		RB1-inducible coiled-coil 1							98.0	107.0	104.0					8																	53569339		2202	4300	6502	SO:0001587	stop_gained	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53569339A>T	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.3050T>A	8.37:g.53569339A>T	ENSP00000025008:p.Leu1017*		Somatic				RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.L1017*|RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.L1017*	p.L1017*	NM_014781.4	NP_055596.3	WXS	Illumina GAIIx	Phase_I	Q8TDY2	RBCC1_HUMAN			15	3573	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	1017					Q86YR4|Q8WVU9|Q92601	Nonsense_Mutation	SNP	ENST00000025008.5	37	c.3050T>A	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	A	44	11.273274	0.99539	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	.	.	.	5.05	5.05	0.67936	.	0.083122	0.50627	D	0.000117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2676	15.0988	0.72256	1.0:0.0:0.0:0.0	.	.	.	.	X	1017	.	ENSP00000025008:L1017X	L	-	2	0	RB1CC1	53731892	0.990000	0.36364	0.995000	0.50966	0.919000	0.55068	8.519000	0.90563	2.041000	0.60428	0.455000	0.32223	TTA		0.338	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		5	109	0	0	0	1	0	5	109				
PIP	5304	broad.mit.edu	37	7	142829297	142829297	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:142829297G>C	ENST00000291009.3	+	1	128	c.88G>C	c.(88-90)Gac>Cac	p.D30H		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	30					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)	p.D30H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CAAAGCTCAGGACAACACGTG	0.537																																						ENST00000291009.3																			1	Substitution - Missense(1)	p.D30H(1)	kidney(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18						c.(88-90)Gac>Cac		prolactin-induced protein							146.0	138.0	141.0					7																	142829297		2203	4299	6502	SO:0001583	missense	5304					extracellular region	actin binding	g.chr7:142829297G>C		CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.88G>C	7.37:g.142829297G>C	ENSP00000291009:p.Asp30His		Somatic					p.D30H	NM_002652.2	NP_002643.1	WXS	Illumina GAIIx	Phase_I	P12273	PIP_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)	1	128	+	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)	30					A0A963|A0A9C3|A0A9F3|A4D2I1	Missense_Mutation	SNP	ENST00000291009.3	37	c.88G>C	CCDS34768.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216217	0.58452	.	.	ENSG00000159763	ENST00000291009	T	0.14516	2.5	4.65	4.65	0.58169	.	0.758677	0.11986	N	0.510300	T	0.10852	0.0265	N	0.14661	0.345	0.09310	N	0.999999	P	0.41673	0.759	B	0.40602	0.334	T	0.17684	-1.0361	10	0.87932	D	0	.	13.2025	0.59776	0.0:0.0:1.0:0.0	.	30	P12273	PIP_HUMAN	H	30	ENSP00000291009:D30H	ENSP00000291009:D30H	D	+	1	0	PIP	142539419	0.861000	0.29849	0.229000	0.23960	0.403000	0.30841	1.152000	0.31663	2.565000	0.86533	0.655000	0.94253	GAC		0.537	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652		167	445	0	0	0	1	0	167	445				
ERBB3	2065	broad.mit.edu	37	12	56481856	56481856	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:56481856C>A	ENST00000267101.3	+	7	1224	c.784C>A	c.(784-786)Cct>Act	p.P262T	ERBB3_ENST00000415288.2_Missense_Mutation_p.P203T|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	262					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTGTCCACAGCCTCTTGTCTA	0.512																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(784-786)Cct>Act		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							92.0	85.0	88.0					12																	56481856		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56481856C>A	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.784C>A	12.37:g.56481856C>A	ENSP00000267101:p.Pro262Thr		Somatic				ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.P203T	p.P262T	NM_001982.3	NP_001973.2	WXS	Illumina GAIIx	Phase_I	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		7	1224	+			262					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.784C>A	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649502	0.29336	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	T;T	0.62639	0.01;0.01	4.78	4.78	0.61160	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.091109	0.46442	D	0.000281	T	0.55337	0.1914	L	0.37750	1.13	0.80722	D	1	B	0.23990	0.095	B	0.29176	0.099	T	0.52343	-0.8588	10	0.33940	T	0.23	.	16.7284	0.85429	0.0:1.0:0.0:0.0	.	262	P21860	ERBB3_HUMAN	T	262;262;203	ENSP00000267101:P262T;ENSP00000408340:P203T	ENSP00000267101:P262T	P	+	1	0	ERBB3	54768123	0.932000	0.31603	1.000000	0.80357	0.920000	0.55202	1.715000	0.37971	2.482000	0.83794	0.563000	0.77884	CCT		0.512	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			4	177	1	0	1	1	1	4	177				
ZGRF1	55345	broad.mit.edu	37	4	113540540	113540540	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:113540540C>T	ENST00000505019.1	-	6	783	c.658G>A	c.(658-660)Gga>Aga	p.G220R	C4orf21_ENST00000309071.5_Missense_Mutation_p.G220R|C4orf21_ENST00000445203.2_Missense_Mutation_p.G189R	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		220						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGCTTATTTCCAGAATTGACA	0.388																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(658-660)Gga>Aga		chromosome 4 open reading frame 21							49.0	52.0	51.0					4																	113540540		2202	4299	6501	SO:0001583	missense	55345							g.chr4:113540540C>T																												ENST00000505019.1:c.658G>A	4.37:g.113540540C>T	ENSP00000424737:p.Gly220Arg		Somatic				C4orf21_ENST00000445203.2_Missense_Mutation_p.G189R|C4orf21_ENST00000309071.5_Missense_Mutation_p.G220R	p.G220R	NM_018392.4	NP_060862.3	WXS	Illumina GAIIx	Phase_I	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	783	-		Ovarian(17;0.156)	220					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.658G>A		.	.	.	.	.	.	.	.	.	.	C	10.04	1.242621	0.22796	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.82344	-1.6;1.9;1.48	5.31	4.47	0.54385	.	0.772617	0.11322	N	0.576000	T	0.71558	0.3354	L	0.29908	0.895	0.09310	N	1	P;B	0.34462	0.454;0.418	B;B	0.32805	0.153;0.116	T	0.57039	-0.7879	10	0.17369	T	0.5	-0.9871	8.5738	0.33585	0.0:0.7138:0.0:0.2862	.	220;220	Q86YA3;G5EA02	CD021_HUMAN;.	R	220;220;189	ENSP00000424737:G220R;ENSP00000309095:G220R;ENSP00000390505:G189R	ENSP00000309095:G220R	G	-	1	0	C4orf21	113759989	0.931000	0.31567	0.013000	0.15412	0.019000	0.09904	1.992000	0.40737	1.232000	0.43678	0.591000	0.81541	GGA		0.388	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			5	39	0	0	0	1	0	5	39				
SLC2A13	114134	broad.mit.edu	37	12	40158549	40158549	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:40158549G>A	ENST00000280871.4	-	8	1607	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	519					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CAGGTGCAAAGAAGACAAGAT	0.338										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(1555-1557)ttC>ttT		solute carrier family 2 (facilitated glucose transporter), member 13							113.0	125.0	121.0					12																	40158549		2203	4300	6503	SO:0001819	synonymous_variant	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40158549G>A	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1557C>T	12.37:g.40158549G>A		HNSCC(50;0.14)	Somatic					p.F519F	NM_052885.3	NP_443117.3	WXS	Illumina GAIIx	Phase_I	Q96QE2	MYCT_HUMAN			8	1607	-		Lung NSC(34;0.105)|all_lung(34;0.123)	519					Q17S07	Silent	SNP	ENST00000280871.4	37	c.1557C>T	CCDS8736.2																																																																																				0.338	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			4	199	0	0	0	1	0	4	199				
PER3	8863	broad.mit.edu	37	1	7887541	7887541	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:7887541A>T	ENST00000361923.2	+	17	2703	c.2528A>T	c.(2527-2529)tAc>tTc	p.Y843F	PER3_ENST00000377532.3_Missense_Mutation_p.Y851F|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	843	Pro-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTTTCCTTACTTGGATACT	0.577																																						ENST00000377532.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(2551-2553)tAc>tTc		period circadian clock 3							168.0	165.0	166.0					1																	7887541		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7887541A>T	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2528A>T	1.37:g.7887541A>T	ENSP00000355031:p.Tyr843Phe		Somatic				PER3_ENST00000361923.2_Missense_Mutation_p.Y843F	p.Y851F			WXS	Illumina GAIIx	Phase_I	P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	17	2776	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	843			Pro-rich.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.2552A>T	CCDS89.1	.	.	.	.	.	.	.	.	.	.	A	9.834	1.189329	0.21954	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.10192	2.9;2.9	4.2	-1.02	0.10135	.	1.682360	0.02989	N	0.146660	T	0.12518	0.0304	L	0.50333	1.59	0.09310	N	1	P;P;P;P	0.40376	0.534;0.593;0.715;0.534	B;B;B;B	0.43575	0.202;0.243;0.424;0.202	T	0.30119	-0.9989	10	0.11794	T	0.64	.	5.8931	0.18925	0.5521:0.1326:0.3154:0.0	.	843;851;851;843	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	F	851;843;54	ENSP00000366755:Y851F;ENSP00000355031:Y843F	ENSP00000355031:Y843F	Y	+	2	0	PER3	7810128	0.000000	0.05858	0.000000	0.03702	0.185000	0.23345	0.209000	0.17435	-0.404000	0.07610	-0.421000	0.06004	TAC		0.577	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		7	361	0	0	0	1	0	7	361				
WDR49	151790	broad.mit.edu	37	3	167254723	167254723	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:167254723C>T	ENST00000308378.3	-	7	1138	c.833G>A	c.(832-834)gGa>gAa	p.G278E	WDR49_ENST00000453925.2_Missense_Mutation_p.G342E|WDR49_ENST00000476376.1_Missense_Mutation_p.G103E|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	278										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTGTATACCTCCTTTCCATTC	0.393																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(832-834)gGa>gAa		WD repeat domain 49							91.0	84.0	86.0					3																	167254723		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167254723C>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.833G>A	3.37:g.167254723C>T	ENSP00000311343:p.Gly278Glu		Somatic				WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.G342E|WDR49_ENST00000476376.1_Missense_Mutation_p.G103E	p.G278E	NM_178824.3	NP_849146.1	WXS	Illumina GAIIx	Phase_I	Q8IV35	WDR49_HUMAN			7	1138	-			278					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.833G>A	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.73|16.73	3.203197|3.203197	0.58234|0.58234	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600|ENST00000308378;ENST00000476376;ENST00000453925	.|T;T;T	.|0.42513	.|1.6;1.76;0.97	5.69|5.69	5.69|5.69	0.88448|0.88448	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.170991	.|0.50627	.|D	.|0.000116	T|T	0.55353|0.55353	0.1915|0.1915	L|L	0.44542|0.44542	1.39|1.39	0.42369|0.42369	D|D	0.992445|0.992445	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.996;0.998	T|T	0.40850|0.40850	-0.9541|-0.9541	5|10	.|0.10111	.|T	.|0.7	.|.	18.5851|18.5851	0.91187|0.91187	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|342;278	.|E7EQK3;Q8IV35	.|.;WDR49_HUMAN	K|E	354|278;103;342	.|ENSP00000311343:G278E;ENSP00000420508:G103E;ENSP00000410863:G342E	.|ENSP00000311343:G278E	E|G	-|-	1|2	0|0	WDR49|WDR49	168737417|168737417	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.111000|0.111000	0.19643|0.19643	5.325000|5.325000	0.65869|0.65869	2.700000|2.700000	0.92200|0.92200	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.393	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		6	190	0	0	0	1	0	6	190				
ZMYM6	9204	broad.mit.edu	37	1	35480663	35480663	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:35480663T>C	ENST00000357182.4	-	5	756	c.529A>G	c.(529-531)Aag>Gag	p.K177E	ZMYM6_ENST00000373340.2_Missense_Mutation_p.K177E|ZMYM6_ENST00000487874.1_Missense_Mutation_p.K177E|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	177					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K177E(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGTTTTTTCTTTAGCTCATAA	0.348																																						ENST00000357182.4																			1	Substitution - Missense(1)	p.K177E(1)	kidney(1)	breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(529-531)Aag>Gag		zinc finger, MYM-type 6							93.0	88.0	90.0					1																	35480663		2203	4300	6503	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35480663T>C	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.529A>G	1.37:g.35480663T>C	ENSP00000349708:p.Lys177Glu		Somatic				ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.K177E|ZMYM6_ENST00000487874.1_Missense_Mutation_p.K177E	p.K177E	NM_007167.3	NP_009098.3	WXS	Illumina GAIIx	Phase_I	O95789	ZMYM6_HUMAN			5	756	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	177					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.529A>G	CCDS387.2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978637	0.74360	.	.	ENSG00000163867	ENST00000373340;ENST00000357182;ENST00000415531	T;T;T	0.36878	1.78;2.9;1.23	4.51	3.36	0.38483	TRASH (1);	0.112824	0.56097	D	0.000021	T	0.51787	0.1695	L	0.55990	1.75	0.36623	D	0.875888	D;D	0.65815	0.995;0.995	D;D	0.70227	0.952;0.968	T	0.60944	-0.7162	10	0.87932	D	0	-7.2588	11.5467	0.50698	0.0:0.0:0.15:0.85	.	177;177	O95789;O95789-1	ZMYM6_HUMAN;.	E	177	ENSP00000362437:K177E;ENSP00000349708:K177E;ENSP00000391337:K177E	ENSP00000349708:K177E	K	-	1	0	ZMYM6	35253250	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	4.398000	0.59697	0.844000	0.35094	0.460000	0.39030	AAG		0.348	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		29	40	0	0	0	1	0	29	40				
ST6GAL2	84620	broad.mit.edu	37	2	107460390	107460390	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:107460390C>T	ENST00000409382.3	-	2	654	c.44G>A	c.(43-45)gGa>gAa	p.G15E	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G15E|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G15E	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	15					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AGCGAATATTCCGAAAAGCAT	0.517																																						ENST00000409382.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(43-45)gGa>gAa		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							52.0	59.0	57.0					2																	107460390		2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460390C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.44G>A	2.37:g.107460390C>T	ENSP00000386942:p.Gly15Glu		Somatic				ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G15E|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G15E	p.G15E	NM_001142351.1	NP_001135823.1	WXS	Illumina GAIIx	Phase_I	Q96JF0	SIAT2_HUMAN			2	654	-			15					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.44G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495269	0.26774	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087;ENST00000419159	T;T;T	0.40756	2.07;2.07;1.02	5.74	4.86	0.63082	.	0.152835	0.64402	D	0.000020	T	0.61502	0.2352	L	0.60455	1.87	0.53688	D	0.999974	D;D	0.71674	0.998;0.997	D;D	0.75484	0.986;0.967	T	0.65705	-0.6103	10	0.87932	D	0	-23.2595	16.0748	0.80962	0.0:0.8661:0.1339:0.0	.	15;15	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	E	15	ENSP00000355273:G15E;ENSP00000386942:G15E;ENSP00000387332:G15E	ENSP00000355273:G15E	G	-	2	0	ST6GAL2	106826822	0.984000	0.35163	0.165000	0.22776	0.274000	0.26718	2.651000	0.46674	1.395000	0.46643	0.655000	0.94253	GGA		0.517	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		21	46	0	0	0	1	0	21	46				
ZGRF1	55345	broad.mit.edu	37	4	113539199	113539199	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:113539199G>T	ENST00000505019.1	-	6	2124	c.1999C>A	c.(1999-2001)Caa>Aaa	p.Q667K	C4orf21_ENST00000309071.5_Missense_Mutation_p.Q667K|C4orf21_ENST00000445203.2_Missense_Mutation_p.Q636K	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		667						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.Q667K(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTGACTTCTTGAATAGGTTTA	0.313																																						ENST00000505019.1																			2	Substitution - Missense(2)	p.Q667K(2)	kidney(2)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1999-2001)Caa>Aaa		chromosome 4 open reading frame 21							89.0	93.0	91.0					4																	113539199		2202	4300	6502	SO:0001583	missense	55345							g.chr4:113539199G>T																												ENST00000505019.1:c.1999C>A	4.37:g.113539199G>T	ENSP00000424737:p.Gln667Lys		Somatic				C4orf21_ENST00000445203.2_Missense_Mutation_p.Q636K|C4orf21_ENST00000309071.5_Missense_Mutation_p.Q667K	p.Q667K	NM_018392.4	NP_060862.3	WXS	Illumina GAIIx	Phase_I	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	2124	-		Ovarian(17;0.156)	667					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.1999C>A		.	.	.	.	.	.	.	.	.	.	G	10.22	1.291374	0.23564	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.83075	-1.68;1.83;1.4	5.14	3.33	0.38152	.	2.305190	0.01565	N	0.020300	T	0.81034	0.4739	L	0.56769	1.78	0.09310	N	1	B;B	0.17465	0.022;0.007	B;B	0.14023	0.01;0.005	T	0.57106	-0.7868	10	0.11794	T	0.64	8.4652	10.3546	0.43956	0.0:0.1307:0.5991:0.2702	.	667;667	Q86YA3;G5EA02	CD021_HUMAN;.	K	667;667;636	ENSP00000424737:Q667K;ENSP00000309095:Q667K;ENSP00000390505:Q636K	ENSP00000309095:Q667K	Q	-	1	0	C4orf21	113758648	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.143000	0.16115	0.609000	0.30018	0.557000	0.71058	CAA		0.313	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			6	37	1	0	0.0293803	1	0.0297669	6	37				
DUOX1	53905	broad.mit.edu	37	15	45433252	45433252	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:45433252G>A	ENST00000321429.4	+	14	1956	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	DUOX1_ENST00000561166.1_Missense_Mutation_p.E163K|DUOX1_ENST00000389037.3_Missense_Mutation_p.E517K	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	517	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTACTGGTTTGAGAACACCAG	0.617																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(1549-1551)Gag>Aag		dual oxidase 1							106.0	101.0	102.0					15																	45433252		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45433252G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1549G>A	15.37:g.45433252G>A	ENSP00000317997:p.Glu517Lys		Somatic				DUOX1_ENST00000561166.1_Missense_Mutation_p.E163K|DUOX1_ENST00000389037.3_Missense_Mutation_p.E517K	p.E517K	NM_017434.3	NP_059130.2	WXS	Illumina GAIIx	Phase_I	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	14	1956	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	517			Peroxidase-like; mediates peroxidase activity.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.1549G>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224580	0.95139	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.72615	-0.67;-0.67	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.85826	0.5787	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88215	0.2893	10	0.62326	D	0.03	-30.1199	14.9827	0.71321	0.0:0.0:1.0:0.0	.	517	Q9NRD9	DUOX1_HUMAN	K	517	ENSP00000317997:E517K;ENSP00000373689:E517K	ENSP00000317997:E517K	E	+	1	0	DUOX1	43220544	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.407000	0.97325	2.474000	0.83562	0.650000	0.86243	GAG		0.617	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		13	170	0	0	0	1	0	13	170				
PDXP	57026	broad.mit.edu	37	22	38055358	38055358	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:38055358C>G	ENST00000215904.6	+	1	625	c.569C>G	c.(568-570)aCc>aGc	p.T190S	SH3BP1_ENST00000599616.1_Intron|Z83844.1_ENST00000456099.1_RNA	NM_020315.4	NP_064711.1	Q96GD0	PLPP_HUMAN	pyridoxal (pyridoxine, vitamin B6) phosphatase	190					actin rod assembly (GO:0031247)|cellular response to ATP (GO:0071318)|positive regulation of actin filament depolymerization (GO:0030836)|protein dephosphorylation (GO:0006470)|pyridoxal phosphate catabolic process (GO:0032361)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heat shock protein binding (GO:0031072)|magnesium ion binding (GO:0000287)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|pyridoxal phosphatase activity (GO:0033883)	p.T190S(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					GGCAGCCGGACCCCTGGTGAG	0.711																																						ENST00000215904.6																			1	Substitution - Missense(1)	p.T190S(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9						c.(568-570)aCc>aGc		pyridoxal (pyridoxine, vitamin B6) phosphatase							12.0	14.0	13.0					22																	38055358		2003	3968	5971	SO:0001583	missense	57026							g.chr22:38055358C>G	BC064922	CCDS13953.1	22q12.3	2005-08-16			ENSG00000241360	ENSG00000241360			30259	protein-coding gene	gene with protein product		609246				14522954	Standard	NM_020315		Approved	dJ37E16.5, FLJ32703		Q96GD0	OTTHUMG00000044618	ENST00000215904.6:c.569C>G	22.37:g.38055358C>G	ENSP00000215904:p.Thr190Ser		Somatic				SH3BP1_ENST00000599616.1_Intron	p.T190S	NM_020315.4	NP_064711.1	WXS	Illumina GAIIx	Phase_I					1	625	+	Melanoma(58;0.0574)							Q9UGY2	Missense_Mutation	SNP	ENST00000215904.6	37	c.569C>G	CCDS13953.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161767	0.57368	.	.	ENSG00000241360	ENST00000215904	T	0.28454	1.61	4.64	4.64	0.57946	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Nitrophenylphosphatase-like  domain (1);	.	.	.	.	T	0.22003	0.0530	N	0.17674	0.51	0.80722	D	1	P	0.47484	0.896	B	0.37731	0.257	T	0.11641	-1.0579	9	0.62326	D	0.03	-18.9083	17.6881	0.88261	0.0:1.0:0.0:0.0	.	190	Q96GD0	PLPP_HUMAN	S	190	ENSP00000215904:T190S	ENSP00000215904:T190S	T	+	2	0	PDXP	36385304	1.000000	0.71417	0.998000	0.56505	0.713000	0.41058	2.484000	0.45242	2.412000	0.81896	0.462000	0.41574	ACC		0.711	PDXP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104105.2	NM_020315		3	7	0	0	0	1	0	3	7				
KIAA1614	57710	broad.mit.edu	37	1	180904820	180904820	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:180904820A>C	ENST00000367588.4	+	5	1830	c.1775A>C	c.(1774-1776)gAa>gCa	p.E592A	KIAA1614_ENST00000367587.1_Missense_Mutation_p.E213A	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	592								p.E592A(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CTCCACATGGAATGGATCCGG	0.637																																						ENST00000367588.4																			1	Substitution - Missense(1)	p.E592A(1)	kidney(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(1774-1776)gAa>gCa		KIAA1614							20.0	23.0	22.0					1																	180904820		2092	4211	6303	SO:0001583	missense	57710							g.chr1:180904820A>C	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1775A>C	1.37:g.180904820A>C	ENSP00000356560:p.Glu592Ala		Somatic				KIAA1614_ENST00000367587.1_Missense_Mutation_p.E213A	p.E592A	NM_020950.1	NP_066001.1	WXS	Illumina GAIIx	Phase_I	Q5VZ46	K1614_HUMAN			5	1830	+			592					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.1775A>C	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	a	12.50	1.958053	0.34565	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.58060	0.87;0.36	4.96	1.27	0.21489	.	0.479841	0.21202	N	0.078447	T	0.37625	0.1010	L	0.41824	1.3	0.31212	N	0.698528	B	0.16396	0.017	B	0.20384	0.029	T	0.27773	-1.0064	9	0.36615	T	0.2	-4.7279	5.1198	0.14854	0.6857:0.1523:0.162:0.0	.	592	Q5VZ46	K1614_HUMAN	A	592;213	ENSP00000356560:E592A;ENSP00000356559:E213A	ENSP00000356559:E213A	E	+	2	0	KIAA1614	179171443	0.047000	0.20315	0.001000	0.08648	0.040000	0.13550	1.122000	0.31295	-0.039000	0.13602	-0.386000	0.06593	GAA		0.637	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		35	61	0	0	0	1	0	35	61				
SLC14A1	6563	broad.mit.edu	37	18	43314250	43314250	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr18:43314250C>T	ENST00000321925.4	+	5	585	c.353C>T	c.(352-354)gCa>gTa	p.A118V	SLC14A1_ENST00000589700.1_Missense_Mutation_p.A118V|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000591943.1_3'UTR|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000402943.2_Missense_Mutation_p.A13V|SLC14A1_ENST00000502059.2_Missense_Mutation_p.A10V|SLC14A1_ENST00000535474.1_5'UTR|SLC14A1_ENST00000586142.1_Missense_Mutation_p.A118V|SLC14A1_ENST00000436407.3_Missense_Mutation_p.A174V|SLC14A1_ENST00000415427.3_Missense_Mutation_p.A174V	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	118					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)	p.A118V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCATTAATAGCATCTGGGCTC	0.478																																						ENST00000321925.4																			1	Substitution - Missense(1)	p.A118V(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(352-354)gCa>gTa		solute carrier family 14 (urea transporter), member 1							180.0	161.0	167.0					18																	43314250		2203	4300	6503	SO:0001583	missense	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43314250C>T	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.353C>T	18.37:g.43314250C>T	ENSP00000318546:p.Ala118Val		Somatic				SLC14A1_ENST00000502059.2_Missense_Mutation_p.A10V|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000535474.1_5'UTR|SLC14A1_ENST00000402943.2_Missense_Mutation_p.A13V|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.A174V|SLC14A1_ENST00000589700.1_Missense_Mutation_p.A118V|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000586142.1_Missense_Mutation_p.A118V|SLC14A1_ENST00000436407.3_Missense_Mutation_p.A174V	p.A118V	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	WXS	Illumina GAIIx	Phase_I	Q13336	UT1_HUMAN			5	585	+			118					A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	c.353C>T	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041634	0.75732	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000436407	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.46	5.46	0.80206	.	0.059906	0.64402	D	0.000003	T	0.73505	0.3595	M	0.93898	3.47	0.80722	D	1	P;P;P	0.51351	0.944;0.745;0.928	P;P;P	0.55260	0.719;0.616;0.772	T	0.80605	-0.1308	10	0.59425	D	0.04	-9.3049	19.3072	0.94167	0.0:1.0:0.0:0.0	.	174;10;118	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	V	118;174;10;13;174	ENSP00000318546:A118V;ENSP00000412309:A174V;ENSP00000442180:A10V;ENSP00000385320:A13V;ENSP00000390637:A174V	ENSP00000318546:A118V	A	+	2	0	SLC14A1	41568248	1.000000	0.71417	0.087000	0.20705	0.196000	0.23810	4.355000	0.59424	2.570000	0.86706	0.591000	0.81541	GCA		0.478	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		4	88	0	0	0	1	0	4	88				
ARMC8	25852	broad.mit.edu	37	3	137960624	137960624	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:137960624G>A	ENST00000469044.1	+	11	1108		c.e11-1		ARMC8_ENST00000491704.1_Splice_Site|ARMC8_ENST00000358441.2_Splice_Site|ARMC8_ENST00000470821.1_Splice_Site|ARMC8_ENST00000471453.1_Splice_Site|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000485396.1_Splice_Site|ARMC8_ENST00000489213.1_Splice_Site|ARMC8_ENST00000481646.1_Splice_Site|ARMC8_ENST00000393058.3_Splice_Site|ARMC8_ENST00000538260.1_Splice_Site	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8											endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CTACCTTTCAGACATTACCTT	0.368																																						ENST00000469044.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.e11-1		armadillo repeat containing 8							100.0	91.0	94.0					3																	137960624		2203	4300	6503	SO:0001630	splice_region_variant	25852						binding	g.chr3:137960624G>A		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.838-1G>A	3.37:g.137960624G>A			Somatic				ARMC8_ENST00000471453.1_Splice_Site|ARMC8_ENST00000470821.1_Splice_Site|ARMC8_ENST00000489213.1_Splice_Site|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Splice_Site|ARMC8_ENST00000358441.2_Splice_Site|ARMC8_ENST00000485396.1_Splice_Site|ARMC8_ENST00000481646.1_Splice_Site|ARMC8_ENST00000393058.3_Splice_Site|ARMC8_ENST00000538260.1_Splice_Site		NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	WXS	Illumina GAIIx	Phase_I	Q8IUR7	ARMC8_HUMAN			11	1108	+								A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Splice_Site	SNP	ENST00000469044.1	37			.	.	.	.	.	.	.	.	.	.	G	23.9	4.474660	0.84640	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000358441;ENST00000489213;ENST00000485396;ENST00000471453;ENST00000470821;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.546	0.87861	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARMC8	139443314	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.852000	0.99516	2.737000	0.93849	0.563000	0.77884	.		0.368	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396	Intron	112	144	0	0	0	1	0	112	144				
TCF12	6938	broad.mit.edu	37	15	57355946	57355946	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:57355946A>T	ENST00000267811.5	+	4	452		c.e4-1		TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000557843.1_Splice_Site|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000333725.5_Splice_Site	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TTCTCTTTTTAGGTATTGATG	0.363			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.e4-1		transcription factor 12							118.0	121.0	120.0					15																	57355946		2192	4292	6484	SO:0001630	splice_region_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57355946A>T	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.149-1A>T	15.37:g.57355946A>T			Somatic				TCF12_ENST00000333725.5_Splice_Site|TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000557843.1_Splice_Site		NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	WXS	Illumina GAIIx	Phase_I	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	4	452	+		Colorectal(260;0.0907)						Q7Z3D9|Q86TC1|Q86VM2	Splice_Site	SNP	ENST00000267811.5	37		CCDS10159.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.877044	0.51801	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000333725	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9021	0.63812	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TCF12	55143238	1.000000	0.71417	0.991000	0.47740	0.804000	0.45430	5.768000	0.68858	2.213000	0.71641	0.477000	0.44152	.		0.363	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	Intron	15	255	0	0	0	1	0	15	255				
CRTC1	23373	broad.mit.edu	37	19	18876286	18876286	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:18876286C>T	ENST00000321949.8	+	9	985	c.959C>T	c.(958-960)gCa>gTa	p.A320V	CRTC1_ENST00000594658.1_Missense_Mutation_p.A279V|CRTC1_ENST00000338797.6_Missense_Mutation_p.A336V|CRTC1_ENST00000601916.1_Missense_Mutation_p.A245V	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						AGCACAGAGGCAAGGCGTCAG	0.657																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(1006-1008)gCa>gTa		CREB regulated transcription coactivator 1							91.0	85.0	87.0					19																	18876286		2203	4300	6503	SO:0001583	missense	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18876286C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.959C>T	19.37:g.18876286C>T	ENSP00000323332:p.Ala320Val		Somatic				CRTC1_ENST00000321949.8_Missense_Mutation_p.A320V|CRTC1_ENST00000601916.1_Missense_Mutation_p.A245V|CRTC1_ENST00000594658.1_Missense_Mutation_p.A279V	p.A336V	NM_001098482.1	NP_001091952.1	WXS	Illumina GAIIx	Phase_I	Q6UUV9	CRTC1_HUMAN			10	1032	+			320			Ser-rich.			Missense_Mutation	SNP	ENST00000321949.8	37	c.1007C>T	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643723	0.29246	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.11712	2.75;2.76	4.38	4.38	0.52667	.	1.218230	0.05628	N	0.581203	T	0.11495	0.0280	L	0.27053	0.805	0.09310	N	0.999992	B;B;B	0.15141	0.012;0.002;0.002	B;B;B	0.11329	0.006;0.004;0.003	T	0.30327	-0.9982	10	0.23891	T	0.37	-6.1689	15.8646	0.79055	0.0:1.0:0.0:0.0	.	320;336;320	Q6UUV9-3;Q6UUV9-2;Q6UUV9	.;.;CRTC1_HUMAN	V	320;336;320	ENSP00000345001:A336V;ENSP00000323332:A320V	ENSP00000262813:A320V	A	+	2	0	CRTC1	18737286	0.000000	0.05858	0.238000	0.24106	0.808000	0.45660	0.783000	0.26802	2.159000	0.67721	0.561000	0.74099	GCA		0.657	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		15	101	0	0	0	1	0	15	101				
RASSF8	11228	broad.mit.edu	37	12	26220645	26220645	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:26220645G>A	ENST00000405154.2	+	4	1336	c.1137G>A	c.(1135-1137)agG>agA	p.R379R	RASSF8_ENST00000282884.9_Splice_Site_p.R379R|RASSF8_ENST00000542865.1_Splice_Site_p.R379R|RASSF8_ENST00000541490.1_Splice_Site_p.R379R|RASSF8_ENST00000381352.3_Splice_Site_p.R379R	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	379					signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					ACATTGAAAGGGGTAAGATGT	0.403																																						ENST00000405154.2																			0				cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25						c.e4+1		Ras association (RalGDS/AF-6) domain family (N-terminal) member 8							113.0	110.0	111.0					12																	26220645		2203	4300	6503	SO:0001630	splice_region_variant	11228				signal transduction			g.chr12:26220645G>A	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.1138+1G>A	12.37:g.26220645G>A			Somatic				RASSF8_ENST00000282884.9_Splice_Site_p.R379_splice|RASSF8_ENST00000541490.1_Splice_Site_p.R379_splice|RASSF8_ENST00000542865.1_Splice_Site_p.R379_splice|RASSF8_ENST00000381352.3_Splice_Site_p.R379_splice	p.R379_splice	NM_001164748.1	NP_001158220.1	WXS	Illumina GAIIx	Phase_I	Q8NHQ8	RASF8_HUMAN			4	1336	+	Colorectal(261;0.0847)		379					A8K1Z0|O95647|Q5SCI2|Q76KB6	Splice_Site	SNP	ENST00000405154.2	37	c.1138_splice	CCDS53765.1																																																																																				0.403	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211	Silent	9	263	0	0	0	1	0	9	263				
UBE3C	9690	broad.mit.edu	37	7	157000395	157000395	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:157000395A>T	ENST00000348165.5	+	13	1936		c.e13-1			NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C						protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGTGTTTTTTAGTTGTAGGTC	0.348																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.e13-1		ubiquitin protein ligase E3C							77.0	77.0	77.0					7																	157000395		2203	4300	6503	SO:0001630	splice_region_variant	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157000395A>T	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1577-1A>T	7.37:g.157000395A>T			Somatic						NM_014671.2	NP_055486.2	WXS	Illumina GAIIx	Phase_I	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	13	1936	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)						A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Splice_Site	SNP	ENST00000348165.5	37		CCDS34789.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.256388	0.22965	.	.	ENSG00000009335	ENST00000348165	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.99996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5851	0.39512	0.7294:0.0:0.0:0.2706	.	.	.	.	.	-1	.	.	.	+	.	.	UBE3C	156693156	1.000000	0.71417	0.949000	0.38748	0.423000	0.31445	4.676000	0.61627	1.986000	0.57962	0.533000	0.62120	.		0.348	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	Intron	7	244	0	0	0	1	0	7	244				
DSEL	92126	broad.mit.edu	37	18	65179106	65179106	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr18:65179106C>T	ENST00000310045.7	-	2	4243	c.2770G>A	c.(2770-2772)Ggg>Agg	p.G924R	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	914					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CGAAAATGCCCACTGCGGATA	0.433																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2770-2772)Ggg>Agg		dermatan sulfate epimerase-like							76.0	77.0	77.0					18																	65179106		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179106C>T	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2770G>A	18.37:g.65179106C>T	ENSP00000310565:p.Gly924Arg		Somatic				CTD-2541J13.2_ENST00000583493.1_RNA	p.G924R	NM_032160.2	NP_115536.1	WXS	Illumina GAIIx	Phase_I	Q8IZU8	DSEL_HUMAN			2	4243	-		Esophageal squamous(42;0.129)	914					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.2770G>A	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677083	0.88445	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.22134	1.97	5.13	3.33	0.38152	Sulfotransferase domain (1);	0.125706	0.52532	U	0.000067	T	0.38348	0.1037	M	0.68952	2.095	0.46823	D	0.999211	P	0.39022	0.655	P	0.55455	0.776	T	0.08994	-1.0695	10	0.62326	D	0.03	0.0681	9.8908	0.41290	0.1392:0.7883:0.0:0.0725	.	914	Q8IZU8	DSEL_HUMAN	R	924;914	ENSP00000310565:G924R	ENSP00000310565:G924R	G	-	1	0	DSEL	63330086	0.961000	0.32948	0.185000	0.23176	0.986000	0.74619	3.994000	0.56994	0.543000	0.28864	0.563000	0.77884	GGG		0.433	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		8	84	0	0	0	1	0	8	84				
DDX42	11325	broad.mit.edu	37	17	61897195	61897195	+	IGR	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:61897195A>T	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Silent_p.R837R	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTTGTTCCTTACGTTGCTGTG	0.537																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(2509-2511)cgT>cgA		FtsJ homolog 3 (E. coli)							301.0	257.0	272.0					17																	61897195		2203	4300	6503	SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61897195A>T	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61897195A>T			Somatic					p.R837R	NM_017647.3	NP_060117.3	WXS	Illumina GAIIx	Phase_I	Q8IY81	RRMJ3_HUMAN			21	3156	-			837					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Silent	SNP	ENST00000578681.1	37	c.2511T>A	CCDS32704.1																																																																																				0.537	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		26	920	0	0	0	1	0	26	920				
TRAPPC10	7109	broad.mit.edu	37	21	45502732	45502732	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:45502732C>A	ENST00000291574.4	+	14	1962	c.1787C>A	c.(1786-1788)tCc>tAc	p.S596Y		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	596					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TTTGATCCCTCCAATGCCGTG	0.493																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(1786-1788)tCc>tAc		trafficking protein particle complex 10							187.0	160.0	169.0					21																	45502732		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45502732C>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.1787C>A	21.37:g.45502732C>A	ENSP00000291574:p.Ser596Tyr		Somatic					p.S596Y	NM_003274.4	NP_003265.3	WXS	Illumina GAIIx	Phase_I	P48553	TPC10_HUMAN			14	1962	+			596					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.1787C>A	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727873	0.48833	.	.	ENSG00000160218	ENST00000291574	T	0.46451	0.87	5.58	3.76	0.43208	.	0.569181	0.19891	N	0.103738	T	0.22781	0.0550	N	0.08118	0	0.09310	N	1	P	0.40875	0.731	B	0.37198	0.243	T	0.06127	-1.0844	10	0.56958	D	0.05	.	10.796	0.46461	0.0:0.7962:0.1322:0.0716	.	596	P48553	TPC10_HUMAN	Y	596	ENSP00000291574:S596Y	ENSP00000291574:S596Y	S	+	2	0	TRAPPC10	44327160	0.463000	0.25799	0.002000	0.10522	0.908000	0.53690	5.395000	0.66291	0.706000	0.31912	-0.175000	0.13238	TCC		0.493	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		5	591	1	0	0.014758	1	0.015018	5	591				
TBC1D8B	54885	broad.mit.edu	37	X	106109045	106109045	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:106109045A>T	ENST00000357242.5	+	16	2618	c.2444A>T	c.(2443-2445)tAt>tTt	p.Y815F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y809F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	815							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTATCTTGTTATTGGTGTTTG	0.343																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2443-2445)tAt>tTt		TBC1 domain family, member 8B (with GRAM domain)							128.0	118.0	121.0					X																	106109045		2203	4300	6503	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106109045A>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2444A>T	X.37:g.106109045A>T	ENSP00000349781:p.Tyr815Phe		Somatic				TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y809F	p.Y815F	NM_017752.2	NP_060222.2	WXS	Illumina GAIIx	Phase_I	Q0IIM8	TBC8B_HUMAN			16	2618	+			815					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2444A>T	CCDS14522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.420514|4.420514	0.83559|0.83559	.|.	.|.	ENSG00000133138|ENSG00000133138	ENST00000431860|ENST00000357242;ENST00000276175;ENST00000394972	.|T;T	.|0.59364	.|0.27;0.27	5.59|5.59	5.59|5.59	0.84812|0.84812	.|EF-hand-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76076|0.76076	0.3937|0.3937	M|M	0.83483|0.83483	2.645|2.645	0.53005|0.53005	D|D	0.999963|0.999963	.|D	.|0.71674	.|0.998	.|D	.|0.77004	.|0.989	T|T	0.76528|0.76528	-0.2926|-0.2926	5|10	.|0.33141	.|T	.|0.24	-5.6795|-5.6795	13.501|13.501	0.61454|0.61454	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|815	.|Q0IIM8	.|TBC8B_HUMAN	F|F	77|815;809;77	.|ENSP00000349781:Y815F;ENSP00000276175:Y809F	.|ENSP00000276175:Y809F	L|Y	+|+	3|2	2|0	TBC1D8B|TBC1D8B	105995701|105995701	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	8.962000|8.962000	0.93254|0.93254	1.868000|1.868000	0.54150|0.54150	0.412000|0.412000	0.27726|0.27726	TTA|TAT		0.343	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		7	179	0	0	0	1	0	7	179				
ALG10B	144245	broad.mit.edu	37	12	38714245	38714245	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:38714245G>A	ENST00000308742.4	+	3	968	c.652G>A	c.(652-654)Gac>Aac	p.D218N	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	218					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AAAGAAGGAAGACAGACTTCC	0.378																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(652-654)Gac>Aac		ALG10B, alpha-1,2-glucosyltransferase							107.0	111.0	110.0					12																	38714245		2203	4298	6501	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714245G>A	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.652G>A	12.37:g.38714245G>A	ENSP00000310120:p.Asp218Asn		Somatic				ALG10B_ENST00000551464.1_Intron	p.D218N	NM_001013620.3	NP_001013642.1	WXS	Illumina GAIIx	Phase_I	Q5I7T1	AG10B_HUMAN			3	968	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	218					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.652G>A	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	N	5.583	0.292315	0.10567	.	.	ENSG00000175548	ENST00000308742	T	0.54479	0.57	3.24	2.35	0.29111	.	0.149328	0.64402	D	0.000014	T	0.30823	0.0777	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06320	-1.0833	10	0.11485	T	0.65	.	8.8874	0.35411	0.1158:0.0:0.8841:0.0	.	218	Q5I7T1	AG10B_HUMAN	N	218	ENSP00000310120:D218N	ENSP00000310120:D218N	D	+	1	0	ALG10B	37000512	1.000000	0.71417	0.054000	0.19295	0.150000	0.21749	4.482000	0.60257	0.939000	0.37446	-0.272000	0.10252	GAC		0.378	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		4	181	0	0	0	1	0	4	181				
ACSL3	2181	broad.mit.edu	37	2	223782769	223782769	+	Missense_Mutation	SNP	A	A	T	rs375127172		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:223782769A>T	ENST00000357430.3	+	6	1093	c.562A>T	c.(562-564)Aca>Tca	p.T188S	ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S|AC097461.4_ENST00000446709.1_RNA	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	188					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTAGTTGTTACATTATATGC	0.348			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(562-564)Aca>Tca		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						120.0	116.0	118.0					2																	223782769		2203	4300	6503	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223782769A>T	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.562A>T	2.37:g.223782769A>T	ENSP00000350012:p.Thr188Ser		Somatic				AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S	p.T188S	NM_004457.3	NP_004448.2	WXS	Illumina GAIIx	Phase_I	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	6	1093	+		Renal(207;0.0183)	188					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.562A>T	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846478	0.91277	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.43294	0.95;0.95;0.95	5.22	5.22	0.72569	AMP-dependent synthetase/ligase (1);	0.097447	0.64402	D	0.000001	T	0.58963	0.2159	L	0.61036	1.89	0.80722	D	1	D	0.59357	0.985	D	0.66847	0.947	T	0.54642	-0.8263	10	0.25106	T	0.35	-17.5461	15.2561	0.73585	1.0:0.0:0.0:0.0	.	188	O95573	ACSL3_HUMAN	S	188;188;36	ENSP00000350012:T188S;ENSP00000375918:T188S;ENSP00000441643:T36S	ENSP00000350012:T188S	T	+	1	0	ACSL3	223491013	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	8.757000	0.91657	2.185000	0.69588	0.533000	0.62120	ACA		0.348	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		6	147	0	0	0	1	0	6	147				
AGAP2	116986	broad.mit.edu	37	12	58124279	58124279	+	Splice_Site	SNP	C	C	T	rs546178093		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:58124279C>T	ENST00000547588.1	-	12	2426	c.2427G>A	c.(2425-2427)acG>acA	p.T809T	AGAP2_ENST00000257897.3_Splice_Site_p.T473T	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	809	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.T809T(1)|p.T473T(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCCACTGACCCGTGCTGAGGG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		19718	0.0		0.001	False		,,,				2504	0.0					ENST00000257897.3																			2	Substitution - coding silent(2)	p.T809T(1)|p.T473T(1)	lung(2)	breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.e12+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							234.0	239.0	237.0					12																	58124279		2203	4300	6503	SO:0001630	splice_region_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58124279C>T	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2428+1G>A	12.37:g.58124279C>T			Somatic				AGAP2_ENST00000547588.1_Splice_Site_p.T809_splice	p.T473_splice	NM_014770.3	NP_055585.1	WXS	Illumina GAIIx	Phase_I	Q99490	AGAP2_HUMAN			12	1504	-			809			G domain.		A8K9F7|O00578|Q548E0|Q8IWU3	Splice_Site	SNP	ENST00000547588.1	37	c.1420_splice	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	C	2.477	-0.320551	0.05386	.	.	ENSG00000135439	ENST00000328568	.	.	.	4.72	-5.17	0.02849	.	.	.	.	.	T	0.35248	0.0925	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33497	-0.9866	4	.	.	.	.	0.9277	0.01328	0.193:0.2488:0.3134:0.2448	.	.	.	.	R	673	.	.	G	-	1	0	AGAP2	56410546	0.322000	0.24634	0.855000	0.33649	0.656000	0.38851	-1.356000	0.02609	-1.480000	0.01865	-2.560000	0.00174	GGA		0.562	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770	Silent	6	740	0	0	0	1	0	6	740				
N4BP2	55728	broad.mit.edu	37	4	40123371	40123371	+	Missense_Mutation	SNP	C	C	T	rs369443725		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:40123371C>T	ENST00000261435.6	+	9	4056	c.3640C>T	c.(3640-3642)Cat>Tat	p.H1214Y		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1214					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCCTGAAAACCATGAATCGAT	0.418																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(3640-3642)Cat>Tat		NEDD4 binding protein 2		C	TYR/HIS	0,4406		0,0,2203	74.0	73.0	74.0		3640	0.1	0.0	4		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	N4BP2	NM_018177.4	83	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1214/1771	40123371	1,13005	2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40123371C>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3640C>T	4.37:g.40123371C>T	ENSP00000261435:p.His1214Tyr		Somatic					p.H1214Y	NM_018177.4	NP_060647.2	WXS	Illumina GAIIx	Phase_I	Q86UW6	N4BP2_HUMAN			9	4056	+			1214					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.3640C>T	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.200|3.200	-0.163923|-0.163923	0.06502|0.06502	0.0|0.0	1.16E-4|1.16E-4	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.17213|.	2.29|.	5.6|5.6	0.073|0.073	0.14389|0.14389	.|.	1.176710|.	0.06286|.	N|.	0.698344|.	T|T	0.22205|0.22205	0.0535|0.0535	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B|.	0.32717|.	0.381;0.263|.	B;B|.	0.27887|.	0.084;0.038|.	T|T	0.26744|0.26744	-1.0094|-1.0094	10|5	0.59425|.	D|.	0.04|.	0.1539|0.1539	5.4914|5.4914	0.16779|0.16779	0.0:0.4964:0.1433:0.3603|0.0:0.4964:0.1433:0.3603	.|.	1214;1214|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	Y|L	1214;1134|860	ENSP00000261435:H1214Y|.	ENSP00000261435:H1214Y|.	H|P	+|+	1|2	0|0	N4BP2|N4BP2	39799766|39799766	0.961000|0.961000	0.32948|0.32948	0.000000|0.000000	0.03702|0.03702	0.037000|0.037000	0.13140|0.13140	0.000000|0.000000	0.12993|0.12993	0.034000|0.034000	0.15491|0.15491	0.563000|0.563000	0.77884|0.77884	CAT|CCA		0.418	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		5	105	0	0	0	1	0	5	105				
C5orf42	65250	broad.mit.edu	37	5	37168957	37168957	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:37168957A>T	ENST00000508244.1	-	33	7262	c.7169T>A	c.(7168-7170)aTa>aAa	p.I2390K	C5orf42_ENST00000274258.7_Missense_Mutation_p.I1270K|C5orf42_ENST00000425232.2_Missense_Mutation_p.I2390K			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2390						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCTTCTGCTATAGGTTGGAT	0.373																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(3808-3810)aTa>aAa		chromosome 5 open reading frame 42							191.0	191.0	191.0					5																	37168957		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37168957A>T		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7169T>A	5.37:g.37168957A>T	ENSP00000421690:p.Ile2390Lys		Somatic				C5orf42_ENST00000425232.2_Missense_Mutation_p.I2390K|C5orf42_ENST00000508244.1_Missense_Mutation_p.I2390K	p.I1270K			WXS	Illumina GAIIx	Phase_I	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		34	7396	-	all_lung(31;0.000616)		2390					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.3809T>A	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	A	12.89	2.074934	0.36566	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.22134	1.97;1.97;1.98;1.97	4.52	-1.53	0.08611	.	1.540460	0.03896	N	0.279478	T	0.08268	0.0206	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.18304	-1.0341	10	0.05436	T	0.98	.	0.6941	0.00896	0.4211:0.1203:0.237:0.2216	.	2390;1270	E9PH94;Q9H799	.;CE042_HUMAN	K	2390;2390;1270;1438;1270	ENSP00000421690:I2390K;ENSP00000389014:I2390K;ENSP00000274258:I1270K;ENSP00000424223:I1438K	ENSP00000274258:I1270K	I	-	2	0	C5orf42	37204714	0.000000	0.05858	0.002000	0.10522	0.227000	0.25037	-1.167000	0.03126	-0.080000	0.12685	-0.269000	0.10298	ATA		0.373	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		5	213	0	0	0	1	0	5	213				
TAF1L	138474	broad.mit.edu	37	9	32634384	32634384	+	Silent	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:32634384A>G	ENST00000242310.4	-	1	1283	c.1194T>C	c.(1192-1194)tcT>tcC	p.S398S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	398					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCATCATTCTAGATTTTATCA	0.453																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1192-1194)tcT>tcC		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							219.0	211.0	214.0					9																	32634384		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634384A>G	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1194T>C	9.37:g.32634384A>G			Somatic				RP11-555J4.4_ENST00000430787.1_RNA	p.S398S	NM_153809.2	NP_722516.1	WXS	Illumina GAIIx	Phase_I	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1283	-			398					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.1194T>C	CCDS35003.1																																																																																				0.453	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			4	380	0	0	0	1	0	4	380				
EEF1E1	9521	broad.mit.edu	37	6	8080190	8080190	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:8080190G>A	ENST00000379715.5	-	4	514	c.458C>T	c.(457-459)cCa>cTa	p.P153L	EEF1E1-BLOC1S5_ENST00000397456.2_Intron|EEF1E1_ENST00000429723.2_Intron	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	153	GST C-terminal.				gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					CCTGATGCCTGGATAATGCTG	0.378																																						ENST00000379715.5																			0				endometrium(1)|prostate(1)	2						c.(457-459)cCa>cTa		eukaryotic translation elongation factor 1 epsilon 1							151.0	126.0	134.0					6																	8080190		2203	4300	6503	SO:0001583	missense	9521				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus		g.chr6:8080190G>A	AF054186	CCDS4507.1, CCDS47370.1	6p24.3	2009-05-20			ENSG00000124802	ENSG00000124802			3212	protein-coding gene	gene with protein product	"""aminoacyl tRNA synthetase complex-interacting multifunctional protein 3"""	609206		P18		9653160	Standard	NM_004280		Approved	AIMP3	uc003mxz.3	O43324	OTTHUMG00000014221	ENST00000379715.5:c.458C>T	6.37:g.8080190G>A	ENSP00000369038:p.Pro153Leu		Somatic				EEF1E1_ENST00000429723.2_Intron|EEF1E1-MUTED_ENST00000397456.2_Intron	p.P153L	NM_004280.4	NP_004271.1	WXS	Illumina GAIIx	Phase_I	O43324	MCA3_HUMAN			4	514	-	Ovarian(93;0.0398)		153			GST C-terminal.		C9JLK5|Q5THS2	Missense_Mutation	SNP	ENST00000379715.5	37	c.458C>T	CCDS4507.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135281	0.77662	.	.	ENSG00000124802	ENST00000379715	.	.	.	5.32	5.32	0.75619	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.050341	0.85682	D	0.000000	T	0.81833	0.4906	M	0.90082	3.085	0.80722	D	1	D	0.65815	0.995	P	0.60789	0.879	D	0.84623	0.0685	8	.	.	.	-13.6578	19.3933	0.94594	0.0:0.0:1.0:0.0	.	153	O43324	MCA3_HUMAN	L	153	.	.	P	-	2	0	EEF1E1	8025189	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.096000	0.89537	2.648000	0.89879	0.650000	0.86243	CCA		0.378	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039799.2	NM_004280		5	116	0	0	0	1	0	5	116				
COL6A6	131873	broad.mit.edu	37	3	130287215	130287215	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:130287215G>A	ENST00000358511.6	+	5	2199	c.2168G>A	c.(2167-2169)aGa>aAa	p.R723K	COL6A6_ENST00000453409.2_Missense_Mutation_p.R723K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	723	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCCAACATCAGAAAGTTTCTC	0.512																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2167-2169)aGa>aAa		collagen, type VI, alpha 6							85.0	88.0	87.0					3																	130287215		1937	4127	6064	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130287215G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2168G>A	3.37:g.130287215G>A	ENSP00000351310:p.Arg723Lys		Somatic				COL6A6_ENST00000453409.2_Missense_Mutation_p.R723K	p.R723K	NM_001102608.1	NP_001096078.1	WXS	Illumina GAIIx	Phase_I	A6NMZ7	CO6A6_HUMAN			5	2199	+			723			Nonhelical region.|VWFA 4.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2168G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	3.575	-0.086754	0.07097	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.82803	-1.65;-1.65	5.51	3.71	0.42584	von Willebrand factor, type A (3);	0.092162	0.47455	D	0.000223	T	0.59252	0.2180	N	0.05259	-0.085	0.25123	N	0.990626	B	0.18461	0.028	B	0.20767	0.031	T	0.48468	-0.9033	10	0.02654	T	1	.	7.9209	0.29846	0.273:0.0:0.727:0.0	.	723	A6NMZ7	CO6A6_HUMAN	K	723	ENSP00000351310:R723K;ENSP00000399236:R723K	ENSP00000351310:R723K	R	+	2	0	COL6A6	131769905	0.992000	0.36948	1.000000	0.80357	0.674000	0.39518	0.710000	0.25748	1.327000	0.45338	0.655000	0.94253	AGA		0.512	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		24	162	0	0	0	1	0	24	162				
SPEN	23013	broad.mit.edu	37	1	16265314	16265314	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:16265314C>T	ENST00000375759.3	+	14	11010	c.10806C>T	c.(10804-10806)taC>taT	p.Y3602Y		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3602	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCATCACTTACCTGCAGGCCA	0.572																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(10804-10806)taC>taT		spen family transcriptional repressor							134.0	102.0	113.0					1																	16265314		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16265314C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10806C>T	1.37:g.16265314C>T			Somatic					p.Y3602Y	NM_015001.2	NP_055816.2	WXS	Illumina GAIIx	Phase_I	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	14	11010	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3602			SPOC.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.10806C>T	CCDS164.1																																																																																				0.572	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		18	157	0	0	0	1	0	18	157				
VPS35	55737	broad.mit.edu	37	16	46705623	46705623	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:46705623C>T	ENST00000299138.7	-	12	1576	c.1518G>A	c.(1516-1518)caG>caA	p.Q506Q	VPS35_ENST00000568642.1_5'Flank	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	506					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATACCAAGTACTGCTGGTCAG	0.448																																						ENST00000299138.7																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(1516-1518)caG>caA		vacuolar protein sorting 35 homolog (S. cerevisiae)							55.0	50.0	52.0					16																	46705623		2203	4300	6503	SO:0001819	synonymous_variant	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46705623C>T	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.1518G>A	16.37:g.46705623C>T			Somatic					p.Q506Q	NM_018206.4	NP_060676.2	WXS	Illumina GAIIx	Phase_I	Q96QK1	VPS35_HUMAN			12	1576	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	506					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Silent	SNP	ENST00000299138.7	37	c.1518G>A	CCDS10721.1																																																																																				0.448	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			8	109	0	0	0	1	0	8	109				
FBXO38	81545	broad.mit.edu	37	5	147788696	147788696	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:147788696G>A	ENST00000340253.5	+	8	1046	c.878G>A	c.(877-879)aGa>aAa	p.R293K	FBXO38_ENST00000513826.1_Missense_Mutation_p.R293K|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000394370.3_Missense_Mutation_p.R293K|FBXO38_ENST00000296701.6_Missense_Mutation_p.R293K			Q6PIJ6	FBX38_HUMAN	F-box protein 38	293					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTTTTAGAAATTTGCAC	0.348																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(877-879)aGa>aAa		F-box protein 38							228.0	223.0	225.0					5																	147788696		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147788696G>A	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.878G>A	5.37:g.147788696G>A	ENSP00000342023:p.Arg293Lys		Somatic				FBXO38_ENST00000513826.1_Missense_Mutation_p.R293K|FBXO38_ENST00000394370.3_Missense_Mutation_p.R293K|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000296701.6_Missense_Mutation_p.R293K	p.R293K			WXS	Illumina GAIIx	Phase_I	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	1046	+			293					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.878G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.149338	0.94645	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.16897	2.31;5.58;2.31;5.58	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.32852	0.0843	L	0.34521	1.04	0.58432	D	0.999999	D;D;D	0.67145	0.996;0.996;0.99	D;D;D	0.76071	0.987;0.987;0.98	T	0.04915	-1.0918	10	0.87932	D	0	-13.4034	17.559	0.87901	0.0:0.0:1.0:0.0	.	293;293;293	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	K	293	ENSP00000342023:R293K;ENSP00000296701:R293K;ENSP00000377895:R293K;ENSP00000426410:R293K	ENSP00000296701:R293K	R	+	2	0	FBXO38	147768889	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.476000	0.97823	2.557000	0.86248	0.491000	0.48974	AGA		0.348	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		9	363	0	0	0	1	0	9	363				
CCDC132	55610	broad.mit.edu	37	7	92987688	92987688	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:92987688T>A	ENST00000305866.5	+	28	2963	c.2835T>A	c.(2833-2835)aaT>aaA	p.N945K	CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.N665K|CCDC132_ENST00000544910.1_Missense_Mutation_p.N915K	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	945						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CCCATATCAATAAGAAAGCAA	0.388																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(2743-2745)aaT>aaA		coiled-coil domain containing 132							142.0	132.0	135.0					7																	92987688		1840	4091	5931	SO:0001583	missense	55610							g.chr7:92987688T>A	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2835T>A	7.37:g.92987688T>A	ENSP00000307666:p.Asn945Lys		Somatic				CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.N945K|CCDC132_ENST00000535481.1_Missense_Mutation_p.N665K	p.N915K	NM_001257998.1	NP_001244927.1	WXS	Illumina GAIIx	Phase_I	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		29	2965	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		945					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.2745T>A	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.011070	0.75046	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000535481	.	.	.	5.42	1.41	0.22369	Protein of unknown function DUF2451, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51500	0.1678	N	0.20328	0.56	0.80722	D	1	D;D;D	0.62365	0.991;0.989;0.991	D;D;D	0.76575	0.988;0.979;0.988	T	0.51204	-0.8735	9	0.72032	D	0.01	-27.4563	6.9202	0.24383	0.0:0.4129:0.0:0.587	.	665;915;945	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	K	945;915;665	.	ENSP00000307666:N945K	N	+	3	2	CCDC132	92825624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.010000	0.40913	0.450000	0.26774	0.529000	0.55759	AAT		0.388	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		5	171	0	0	0	1	0	5	171				
HMCN1	83872	broad.mit.edu	37	1	186086589	186086589	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:186086589A>T	ENST00000271588.4	+	77	11912		c.e77-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGTTGTTTTAGTTCCACCTT	0.403																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e77-1		hemicentin 1							70.0	69.0	70.0					1																	186086589		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186086589A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11684-1A>T	1.37:g.186086589A>T			Somatic				HMCN1_ENST00000367492.2_Splice_Site		NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			77	11912	+								A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37		CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.669800	0.88348	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8909	0.79296	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184353212	1.000000	0.71417	0.969000	0.41365	0.967000	0.64934	9.339000	0.96797	2.146000	0.66826	0.533000	0.62120	.		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Intron	5	120	0	0	0	1	0	5	120				
DHX8	1659	broad.mit.edu	37	17	41585811	41585811	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:41585811A>G	ENST00000262415.3	+	16	2497	c.2425A>G	c.(2425-2427)Atc>Gtc	p.I809V	DHX8_ENST00000540306.1_Missense_Mutation_p.I809V	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	809	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.I809V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGAGTTAATTATCCTCCCAGT	0.468																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			1	Substitution - Missense(1)	p.I809V(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(2425-2427)Atc>Gtc		DEAH (Asp-Glu-Ala-His) box polypeptide 8							147.0	139.0	141.0					17																	41585811		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41585811A>G	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.2425A>G	17.37:g.41585811A>G	ENSP00000262415:p.Ile809Val		Somatic				DHX8_ENST00000540306.1_Missense_Mutation_p.I809V	p.I809V	NM_004941.1	NP_004932.1	WXS	Illumina GAIIx	Phase_I	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	16	2497	+		Breast(137;0.00908)	809			Helicase C-terminal.			Missense_Mutation	SNP	ENST00000262415.3	37	c.2425A>G	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.728834	0.69074	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.73575	-0.76;-0.76	5.68	5.68	0.88126	Helicase, C-terminal (3);	0.119433	0.64402	D	0.000011	T	0.71443	0.3340	N	0.16790	0.44	0.58432	D	0.999993	P;P	0.49447	0.924;0.715	P;P	0.53809	0.73;0.735	T	0.75105	-0.3435	10	0.52906	T	0.07	.	15.0989	0.72256	1.0:0.0:0.0:0.0	.	809;809	F5H658;Q14562	.;DHX8_HUMAN	V	809	ENSP00000437886:I809V;ENSP00000262415:I809V	ENSP00000262415:I809V	I	+	1	0	DHX8	38941337	1.000000	0.71417	0.981000	0.43875	0.992000	0.81027	7.422000	0.80217	2.162000	0.67917	0.459000	0.35465	ATC		0.468	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			113	107	0	0	0	1	0	113	107				
NUAK2	81788	broad.mit.edu	37	1	205272959	205272959	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:205272959G>A	ENST00000367157.3	-	7	1632	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CATTGAGTTTGAGGATGCCTT	0.642																																						ENST00000367157.3																			0				breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(1504-1506)ctC>ctT		NUAK family, SNF1-like kinase, 2							50.0	54.0	53.0					1																	205272959		2203	4300	6503	SO:0001819	synonymous_variant	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205272959G>A	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1506C>T	1.37:g.205272959G>A			Somatic					p.L502L	NM_030952.1	NP_112214.1	WXS	Illumina GAIIx	Phase_I	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		7	1632	-	Breast(84;0.186)		502						Silent	SNP	ENST00000367157.3	37	c.1506C>T	CCDS1453.1																																																																																				0.642	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		7	72	0	0	0	1	0	7	72				
ARMC8	25852	broad.mit.edu	37	3	137960639	137960639	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:137960639G>A	ENST00000469044.1	+	11	1123	c.852G>A	c.(850-852)ttG>ttA	p.L284L	ARMC8_ENST00000491704.1_Silent_p.L242L|ARMC8_ENST00000358441.2_Silent_p.L270L|ARMC8_ENST00000470821.1_Silent_p.L284L|ARMC8_ENST00000471453.1_Silent_p.L270L|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000485396.1_Silent_p.L211L|ARMC8_ENST00000489213.1_Silent_p.L242L|ARMC8_ENST00000481646.1_Silent_p.L270L|ARMC8_ENST00000393058.3_Silent_p.L274L|ARMC8_ENST00000538260.1_Silent_p.L253L	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	284								p.L270F(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TACCTTGTTTGGTTCGAATGT	0.378																																						ENST00000469044.1																			2	Substitution - Missense(2)	p.L270F(2)	lung(2)	endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.(850-852)ttG>ttA		armadillo repeat containing 8							117.0	106.0	110.0					3																	137960639		2203	4300	6503	SO:0001819	synonymous_variant	25852						binding	g.chr3:137960639G>A		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.852G>A	3.37:g.137960639G>A			Somatic				ARMC8_ENST00000471453.1_Silent_p.L270L|ARMC8_ENST00000470821.1_Silent_p.L284L|ARMC8_ENST00000489213.1_Silent_p.L242L|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Silent_p.L242L|ARMC8_ENST00000358441.2_Silent_p.L270L|ARMC8_ENST00000485396.1_Silent_p.L211L|ARMC8_ENST00000481646.1_Silent_p.L270L|ARMC8_ENST00000393058.3_Silent_p.L274L|ARMC8_ENST00000538260.1_Silent_p.L253L	p.L284L	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	WXS	Illumina GAIIx	Phase_I	Q8IUR7	ARMC8_HUMAN			11	1123	+			284					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Silent	SNP	ENST00000469044.1	37	c.852G>A																																																																																					0.378	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		178	178	0	0	0	1	0	178	178				
SHOC2	8036	broad.mit.edu	37	10	112724542	112724542	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:112724542G>A	ENST00000369452.4	+	2	771	c.426G>A	c.(424-426)gtG>gtA	p.V142V	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Silent_p.V142V	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	142					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CAGCAGAGGTGGGATGTTTAG	0.383																																						ENST00000369452.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17						c.(424-426)gtG>gtA		soc-2 suppressor of clear homolog (C. elegans)							77.0	79.0	79.0					10																	112724542		2203	4300	6503	SO:0001819	synonymous_variant	8036				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	g.chr10:112724542G>A	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.426G>A	10.37:g.112724542G>A			Somatic				SHOC2_ENST00000265277.5_Silent_p.V142V|SHOC2_ENST00000489390.1_Intron	p.V142V	NM_007373.3	NP_031399.2	WXS	Illumina GAIIx	Phase_I	Q9UQ13	SHOC2_HUMAN		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	2	771	+			142					A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Silent	SNP	ENST00000369452.4	37	c.426G>A	CCDS7568.1																																																																																				0.383	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373		4	116	0	0	0	1	0	4	116				
TONSL	4796	broad.mit.edu	37	8	145666428	145666428	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:145666428A>T	ENST00000409379.3	-	8	961	c.932T>A	c.(931-933)aTg>aAg	p.M311K	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	311					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.M311K(1)|p.M152K(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						ACAGATGACCATGGCACCCTG	0.637																																						ENST00000409379.3																			2	Substitution - Missense(2)	p.M311K(1)|p.M152K(1)	kidney(2)	biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(931-933)aTg>aAg		tonsoku-like, DNA repair protein							92.0	87.0	89.0					8																	145666428		2203	4300	6503	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145666428A>T		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.932T>A	8.37:g.145666428A>T	ENSP00000386239:p.Met311Lys		Somatic					p.M311K	NM_013432.4	NP_038460.4	WXS	Illumina GAIIx	Phase_I	Q96HA7	TONSL_HUMAN			8	961	-			311					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.932T>A	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	A	6.912	0.537951	0.13188	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.75589	-0.95	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.293777	0.38720	N	0.001594	T	0.69878	0.3160	L	0.56769	1.78	0.43953	D	0.996627	P	0.38335	0.627	B	0.35114	0.196	T	0.72757	-0.4197	10	0.51188	T	0.08	-17.2256	13.4696	0.61276	1.0:0.0:0.0:0.0	.	311	Q96HA7	TONSL_HUMAN	K	311	ENSP00000386239:M311K	ENSP00000386239:M311K	M	-	2	0	TONSL	145637236	1.000000	0.71417	0.998000	0.56505	0.020000	0.10135	8.316000	0.89985	2.077000	0.62373	0.459000	0.35465	ATG		0.637	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		5	9	0	0	0	1	0	5	9				
OR9Q1	219956	broad.mit.edu	37	11	57947012	57947012	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:57947012A>T	ENST00000335397.3	+	3	412	c.96A>T	c.(94-96)ttA>ttT	p.L32F		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCTTGTTTTTATTTATGTATC	0.448																																						ENST00000335397.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(94-96)ttA>ttT		olfactory receptor, family 9, subfamily Q, member 1							209.0	198.0	202.0					11																	57947012		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947012A>T	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.96A>T	11.37:g.57947012A>T	ENSP00000334934:p.Leu32Phe		Somatic					p.L32F	NM_001005212.3	NP_001005212.1	WXS	Illumina GAIIx	Phase_I	Q8NGQ5	OR9Q1_HUMAN			3	412	+		Breast(21;0.222)	32					Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.96A>T	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.422402	0.25639	.	.	ENSG00000186509	ENST00000335397	T	0.01804	4.63	4.75	-9.5	0.00584	.	0.000000	0.35555	N	0.003126	T	0.04815	0.0130	M	0.77820	2.39	0.18873	N	0.999987	D	0.71674	0.998	D	0.63113	0.911	T	0.18023	-1.0350	10	0.54805	T	0.06	-3.2934	7.7301	0.28781	0.1236:0.1588:0.5605:0.1571	.	32	Q8NGQ5	OR9Q1_HUMAN	F	32	ENSP00000334934:L32F	ENSP00000334934:L32F	L	+	3	2	OR9Q1	57703588	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	-4.246000	0.00267	-3.550000	0.00142	-0.376000	0.06991	TTA		0.448	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		10	416	0	0	0	1	0	10	416				
CD163	9332	broad.mit.edu	37	12	7651778	7651778	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:7651778G>A	ENST00000359156.4	-	4	666	c.464C>T	c.(463-465)tCc>tTc	p.S155F	CD163_ENST00000396620.3_Missense_Mutation_p.S155F|CD163_ENST00000432237.2_Missense_Mutation_p.S155F|CD163_ENST00000541972.1_Missense_Mutation_p.S143F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	155					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TTCCAAATTGGATCCATCTGG	0.408																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(463-465)tCc>tTc		CD163 molecule							135.0	134.0	134.0					12																	7651778		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7651778G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.464C>T	12.37:g.7651778G>A	ENSP00000352071:p.Ser155Phe		Somatic				CD163_ENST00000432237.2_Missense_Mutation_p.S155F|CD163_ENST00000541972.1_Missense_Mutation_p.S143F|CD163_ENST00000396620.3_Missense_Mutation_p.S155F	p.S155F	NM_004244.5	NP_004235.4	WXS	Illumina GAIIx	Phase_I	Q86VB7	C163A_HUMAN			4	666	-			155					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.464C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714950	0.30413	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01347	4.99;4.99;5.0;5.0	4.96	4.0	0.46444	Speract/scavenger receptor-related (1);	1.323970	0.04820	N	0.436710	T	0.03959	0.0111	N	0.21324	0.655	0.09310	N	1	D;B;D	0.76494	0.999;0.047;0.999	D;B;D	0.67103	0.949;0.014;0.949	T	0.53099	-0.8486	10	0.72032	D	0.01	.	7.9616	0.30074	0.0:0.1732:0.648:0.1788	.	155;155;155	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	F	155;143;155;155	ENSP00000352071:S155F;ENSP00000444071:S143F;ENSP00000379863:S155F;ENSP00000403885:S155F	ENSP00000352071:S155F	S	-	2	0	CD163	7543045	0.002000	0.14202	0.918000	0.36340	0.147000	0.21601	0.817000	0.27281	2.469000	0.83416	0.650000	0.86243	TCC		0.408	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		10	548	0	0	0	1	0	10	548				
RHD	6007	broad.mit.edu	37	1	25628086	25628086	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:25628086C>T	ENST00000328664.4	+	5	865	c.710C>T	c.(709-711)gCc>gTc	p.A237V	RHD_ENST00000417538.2_Missense_Mutation_p.A237V|RHD_ENST00000357542.4_Missense_Mutation_p.A237V|RHD_ENST00000423810.2_Missense_Mutation_p.A237V|RHD_ENST00000454452.2_Missense_Mutation_p.A237V|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000342055.5_Missense_Mutation_p.A237V|RHD_ENST00000568195.1_Missense_Mutation_p.A237V	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	237						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGAAGAATGCCGTGTTCAAC	0.557																																						ENST00000328664.4																			0				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14						c.(709-711)gCc>gTc		Rh blood group, D antigen							197.0	154.0	169.0					1																	25628086		2122	3774	5896	SO:0001583	missense	6007					integral to plasma membrane		g.chr1:25628086C>T	AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.710C>T	1.37:g.25628086C>T	ENSP00000331871:p.Ala237Val		Somatic				RHD_ENST00000342055.5_Missense_Mutation_p.A237V|RHD_ENST00000423810.2_Missense_Mutation_p.A237V|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000357542.4_Missense_Mutation_p.A237V|RHD_ENST00000568195.1_Missense_Mutation_p.A237V|RHD_ENST00000454452.2_Missense_Mutation_p.A237V|RHD_ENST00000417538.2_Missense_Mutation_p.A237V	p.A237V	NM_016124.3	NP_057208.2	WXS	Illumina GAIIx	Phase_I	Q02161	RHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	5	865	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	237					Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	ENST00000328664.4	37	c.710C>T	CCDS262.1	.	.	.	.	.	.	.	.	.	.	.	15.89	2.965168	0.53507	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72	3.8	1.83	0.25207	Ammonium transporter AmtB-like (3);	0.113575	0.64402	D	0.000015	T	0.45597	0.1350	M	0.80746	2.51	0.43879	D	0.996498	P;P;D;P;P;P;D;P	0.76494	0.857;0.857;0.999;0.722;0.678;0.896;0.998;0.927	P;P;D;P;P;B;D;P	0.79108	0.811;0.789;0.992;0.714;0.57;0.446;0.923;0.665	T	0.30937	-0.9961	10	0.87932	D	0	-6.7567	5.0704	0.14604	0.0:0.661:0.2148:0.1242	.	237;237;237;237;237;237;237;237	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	V	237	ENSP00000331871:A237V;ENSP00000413849:A237V;ENSP00000339577:A237V;ENSP00000350150:A237V;ENSP00000396420:A237V;ENSP00000399640:A237V	ENSP00000331871:A237V	A	+	2	0	RHD	25500673	0.894000	0.30519	0.038000	0.18304	0.071000	0.16799	2.131000	0.42074	0.104000	0.17725	0.184000	0.17185	GCC		0.557	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124		5	709	0	0	0	1	0	5	709				
OR4Q3	441669	broad.mit.edu	37	14	20215690	20215690	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:20215690A>T	ENST00000331723.1	+	1	104	c.104A>T	c.(103-105)tAc>tTc	p.Y35F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTTTTTTTACATTGCTATT	0.378																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(103-105)tAc>tTc		olfactory receptor, family 4, subfamily Q, member 3							169.0	173.0	172.0					14																	20215690		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215690A>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.104A>T	14.37:g.20215690A>T	ENSP00000330049:p.Tyr35Phe		Somatic					p.Y35F	NM_172194.1	NP_751944.1	WXS	Illumina GAIIx	Phase_I	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	104	+	all_cancers(95;0.00108)		35					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.104A>T	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	12.51	1.958973	0.34565	.	.	ENSG00000182652	ENST00000331723	T	0.04406	3.63	4.32	3.09	0.35607	.	0.000000	0.36591	U	0.002508	T	0.10637	0.0260	M	0.85542	2.76	0.27984	N	0.935927	P	0.46512	0.879	P	0.44518	0.452	T	0.06991	-1.0796	10	0.87932	D	0	.	8.4189	0.32687	0.8259:0.0:0.0:0.1741	.	35	Q8NH05	OR4Q3_HUMAN	F	35	ENSP00000330049:Y35F	ENSP00000330049:Y35F	Y	+	2	0	OR4Q3	19285530	0.740000	0.28207	0.136000	0.22124	0.867000	0.49689	1.606000	0.36826	1.814000	0.52955	0.416000	0.27883	TAC		0.378	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			8	299	0	0	0	1	0	8	299				
SDHAF2	54949	broad.mit.edu	37	11	61205474	61205474	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:61205474A>T	ENST00000301761.2	+	3	334		c.e3-1		SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000537782.1_Splice_Site|SDHAF2_ENST00000534878.1_Splice_Site|RP11-286N22.8_ENST00000544880.1_Splice_Site	NM_017841.2	NP_060311.1			succinate dehydrogenase complex assembly factor 2											large_intestine(3)|lung(4)|ovary(2)	9						TCTTGTTTTTAGTCTTTTTGC	0.403																																						ENST00000301761.2																			0				large_intestine(3)|lung(4)|ovary(2)	9						c.e3-1		succinate dehydrogenase complex assembly factor 2							96.0	93.0	94.0					11																	61205474		2202	4299	6501	SO:0001630	splice_region_variant	54949				mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding	g.chr11:61205474A>T	AK000494	CCDS8007.1	11q12.2	2014-09-17	2009-08-10	2009-08-10	ENSG00000167985	ENSG00000167985		"""Mitochondrial respiratory chain complex assembly factors"""	26034	protein-coding gene	gene with protein product		613019	"""paraganglioma or familial glomus tumors 2"", ""chromosome 11 open reading frame 79"""	PGL2, C11orf79		19628817	Standard	NM_017841		Approved	FLJ20487, SDH5	uc001nrt.3	Q9NX18	OTTHUMG00000168279	ENST00000301761.2:c.261-1A>T	11.37:g.61205474A>T			Somatic				SDHAF2_ENST00000534878.1_Splice_Site|RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000537782.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron		NM_017841.2	NP_060311.1	WXS	Illumina GAIIx	Phase_I	Q9NX18	SDHF2_HUMAN			3	334	+									Splice_Site	SNP	ENST00000301761.2	37		CCDS8007.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500876	0.64298	.	.	ENSG00000256591;ENSG00000167985	ENST00000541135;ENST00000301761	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3309	0.74208	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SDHAF2;RP11-286N22.8	60962050	1.000000	0.71417	0.977000	0.42913	0.540000	0.34992	8.106000	0.89555	2.254000	0.74563	0.533000	0.62120	.		0.403	SDHAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398438.1	NM_017841	Intron	6	170	0	0	0	1	0	6	170				
USP32P2	220594	broad.mit.edu	37	17	18420715	18420715	+	RNA	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:18420715G>A	ENST00000425211.1	-	0	1762				USP32P2_ENST00000412260.1_RNA																							AAACTTTCCCGAGGAAATTTG	0.443																																						ENST00000425211.1																			0																																																			220594							g.chr17:18420715G>A																													17.37:g.18420715G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	1762	-									RNA	SNP	ENST00000425211.1	37																																																																																						0.443	CTD-2303H24.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473021.1			27	28	0	0	0	1	0	27	28				
ST6GALNAC6	30815	broad.mit.edu	37	9	130653221	130653221	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:130653221G>A	ENST00000373146.1	-	5	578	c.399C>T	c.(397-399)atC>atT	p.I133I	ST6GALNAC6_ENST00000373141.1_Silent_p.I99I|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373144.3_Silent_p.I99I|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Silent_p.I133I|ST6GALNAC6_ENST00000291839.5_Silent_p.I133I			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	133					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CATTCATGCGGATTGTACACT	0.607																																						ENST00000373146.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(397-399)atC>atT		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6							95.0	85.0	88.0					9																	130653221		2203	4300	6503	SO:0001819	synonymous_variant	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130653221G>A	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.399C>T	9.37:g.130653221G>A			Somatic				ST6GALNAC6_ENST00000373144.3_Silent_p.I99I|ST6GALNAC6_ENST00000291839.5_Silent_p.I133I|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373141.1_Silent_p.I99I|ST6GALNAC6_ENST00000373142.1_Silent_p.I133I	p.I133I			WXS	Illumina GAIIx	Phase_I	Q969X2	SIA7F_HUMAN			5	578	-			133					B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Silent	SNP	ENST00000373146.1	37	c.399C>T	CCDS6882.1																																																																																				0.607	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		4	20	0	0	0	1	0	4	20				
SERPINB7	8710	broad.mit.edu	37	18	61463591	61463591	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr18:61463591A>G	ENST00000398019.2	+	5	753	c.428A>G	c.(427-429)aAt>aGt	p.N143S	SERPINB7_ENST00000540675.1_Missense_Mutation_p.N126S|SERPINB7_ENST00000336429.2_Missense_Mutation_p.N143S|SERPINB7_ENST00000546027.1_Missense_Mutation_p.N143S	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	143					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.N143S(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CGTAATATTAATAAGTGGGTT	0.353																																						ENST00000398019.2																			1	Substitution - Missense(1)	p.N143S(1)	kidney(1)	central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(427-429)aAt>aGt		serpin peptidase inhibitor, clade B (ovalbumin), member 7							78.0	80.0	79.0					18																	61463591		2203	4299	6502	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61463591A>G	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.428A>G	18.37:g.61463591A>G	ENSP00000381101:p.Asn143Ser		Somatic				SERPINB7_ENST00000540675.1_Missense_Mutation_p.N126S|SERPINB7_ENST00000336429.2_Missense_Mutation_p.N143S|SERPINB7_ENST00000546027.1_Missense_Mutation_p.N143S	p.N143S	NM_003784.3	NP_003775.1	WXS	Illumina GAIIx	Phase_I	O75635	SPB7_HUMAN			5	753	+		Esophageal squamous(42;0.129)	143					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.428A>G	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.812234	0.50527	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000447428;ENST00000546027	D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-2.96;-3.13	5.56	5.56	0.83823	Serpin domain (3);	0.000000	0.56097	D	0.000024	D	0.97256	0.9103	H	0.95504	3.68	0.43029	D	0.994595	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.98662	1.0684	9	.	.	.	.	15.1782	0.72931	1.0:0.0:0.0:0.0	.	126;143	F5GZC0;O75635	.;SPB7_HUMAN	S	143;143;126;143;143	ENSP00000337212:N143S;ENSP00000381101:N143S;ENSP00000444572:N126S;ENSP00000402362:N143S;ENSP00000444861:N143S	.	N	+	2	0	SERPINB7	59614571	1.000000	0.71417	0.995000	0.50966	0.010000	0.07245	7.356000	0.79445	2.239000	0.73571	0.528000	0.53228	AAT		0.353	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		38	18	0	0	0	1	0	38	18				
ZNF737	100129842	broad.mit.edu	37	19	20727828	20727828	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:20727828T>C	ENST00000427401.4	-	4	1275	c.1181A>G	c.(1180-1182)gAg>gGg	p.E394G		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E393G(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GTAGGGTTTCTCTCCAGTATG	0.408																																						ENST00000427401.4																			1	Substitution - Missense(1)	p.E393G(1)	kidney(1)	breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(1180-1182)gAg>gGg		zinc finger protein 737							76.0	76.0	76.0					19																	20727828		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20727828T>C	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1181A>G	19.37:g.20727828T>C	ENSP00000395733:p.Glu394Gly		Somatic					p.E394G	NM_001159293.1	NP_001152765.1	WXS	Illumina GAIIx	Phase_I	C9JHM3	C9JHM3_HUMAN			4	1275	-			394					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.1181A>G	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	N	11.22	1.575053	0.28092	.	.	ENSG00000237440	ENST00000427401	T	0.27557	1.66	0.801	0.801	0.18679	.	.	.	.	.	T	0.31009	0.0783	M	0.67625	2.065	0.27757	N	0.943952	P	0.37141	0.584	B	0.39339	0.297	T	0.27191	-1.0081	9	0.72032	D	0.01	.	5.4149	0.16368	0.0:0.0:0.0:1.0	.	394	C9JHM3	.	G	394	ENSP00000395733:E394G	ENSP00000395733:E394G	E	-	2	0	ZNF737	20519668	0.965000	0.33210	0.578000	0.28575	0.580000	0.36256	2.046000	0.41260	0.147000	0.19030	0.145000	0.16022	GAG		0.408	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		20	57	0	0	0	1	0	20	57				
IQCK	124152	broad.mit.edu	37	16	19746673	19746673	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:19746673A>T	ENST00000320394.6	+	5	1075		c.e5-1		IQCK_ENST00000433597.2_Splice_Site|IQCK_ENST00000541926.1_Splice_Site|IQCK_ENST00000564186.1_Splice_Site	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K											kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TGTTTGTTTTAGGTTCTCCCA	0.428																																						ENST00000320394.6																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.e5-1		IQ motif containing K							73.0	70.0	71.0					16																	19746673		2197	4300	6497	SO:0001630	splice_region_variant	124152							g.chr16:19746673A>T	AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.377-1A>T	16.37:g.19746673A>T			Somatic				IQCK_ENST00000433597.2_Splice_Site|IQCK_ENST00000541926.1_Splice_Site|IQCK_ENST00000564186.1_Splice_Site		NM_153208.1	NP_694940.1	WXS	Illumina GAIIx	Phase_I	Q8N0W5	IQCK_HUMAN			5	1075	+								B2RDU0|O43327|Q8NFF4	Splice_Site	SNP	ENST00000320394.6	37		CCDS10580.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.991737	0.35131	.	.	ENSG00000174628	ENST00000320394;ENST00000308214;ENST00000541926;ENST00000433597	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3641	0.60674	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IQCK	19654174	1.000000	0.71417	0.983000	0.44433	0.485000	0.33311	5.410000	0.66381	2.095000	0.63458	0.533000	0.62120	.		0.428	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208	Intron	4	83	0	0	0	1	0	4	83				
ZFHX3	463	broad.mit.edu	37	16	72830584	72830584	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:72830584C>G	ENST00000268489.5	-	9	6669	c.5997G>C	c.(5995-5997)aaG>aaC	p.K1999N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.K1085N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1999					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTGATGACTCTTTAAAATCA	0.443																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(5995-5997)aaG>aaC		zinc finger homeobox 3							104.0	103.0	104.0					16																	72830584		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72830584C>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5997G>C	16.37:g.72830584C>G	ENSP00000268489:p.Lys1999Asn		Somatic				ZFHX3_ENST00000397992.5_Missense_Mutation_p.K1085N	p.K1999N	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			9	6669	-		Ovarian(137;0.13)	1999					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.5997G>C	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.409049	0.42715	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.29655	1.56;2.36	5.75	4.8	0.61643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.52532	D	0.000071	T	0.52565	0.1742	M	0.64404	1.975	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.56631	-0.7947	10	0.87932	D	0	.	14.5177	0.67830	0.0:0.93:0.0:0.07	.	1999	Q15911	ZFHX3_HUMAN	N	1999;1085	ENSP00000268489:K1999N;ENSP00000438926:K1085N	ENSP00000268489:K1999N	K	-	3	2	ZFHX3	71388085	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.033000	0.70925	1.421000	0.47157	0.655000	0.94253	AAG		0.443	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		8	456	0	0	0	1	0	8	456				
ORC1	4998	broad.mit.edu	37	1	52851529	52851529	+	Silent	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:52851529T>A	ENST00000371568.3	-	9	1694	c.1476A>T	c.(1474-1476)cgA>cgT	p.R492R	ORC1_ENST00000371566.1_Silent_p.R492R	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	492					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R492R(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGTACCTCAGTCGGGCTTCCT	0.542																																						ENST00000371568.3																			1	Substitution - coding silent(1)	p.R492R(1)	kidney(1)	breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1474-1476)cgA>cgT		origin recognition complex, subunit 1							37.0	35.0	36.0					1																	52851529		2203	4300	6503	SO:0001819	synonymous_variant	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52851529T>A		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1476A>T	1.37:g.52851529T>A			Somatic				ORC1_ENST00000371566.1_Silent_p.R492R	p.R492R	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	WXS	Illumina GAIIx	Phase_I	Q13415	ORC1_HUMAN			9	1694	-			492					D3DQ34|Q13471|Q5T0F5	Silent	SNP	ENST00000371568.3	37	c.1476A>T	CCDS566.1																																																																																				0.542	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		11	41	0	0	0	1	0	11	41				
THYN1	29087	broad.mit.edu	37	11	134118717	134118717	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:134118717T>C	ENST00000341541.3	-	6	1078	c.617A>G	c.(616-618)cAg>cGg	p.Q206R	THYN1_ENST00000352327.5_Intron|THYN1_ENST00000392595.2_Missense_Mutation_p.Q206R|THYN1_ENST00000392594.3_Missense_Mutation_p.Q206R|THYN1_ENST00000525677.1_5'Flank	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	206						nucleus (GO:0005634)		p.Q206R(1)		endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		ggtcagggGCTGGATTGATAA	0.468																																						ENST00000341541.3																			1	Substitution - Missense(1)	p.Q206R(1)	kidney(1)	endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7						c.(616-618)cAg>cGg		thymocyte nuclear protein 1							84.0	91.0	88.0					11																	134118717		2201	4297	6498	SO:0001583	missense	29087					nucleus		g.chr11:134118717T>C	BC006978	CCDS8496.1, CCDS8497.1	11q25	2006-02-09			ENSG00000151500	ENSG00000151500			29560	protein-coding gene	gene with protein product		613739				14601557, 12384300	Standard	NM_014174		Approved	THY28	uc001qhg.3	Q9P016	OTTHUMG00000167176	ENST00000341541.3:c.617A>G	11.37:g.134118717T>C	ENSP00000341657:p.Gln206Arg		Somatic				THYN1_ENST00000352327.5_Intron|THYN1_ENST00000392595.2_Missense_Mutation_p.Q206R|THYN1_ENST00000392594.3_Missense_Mutation_p.Q206R	p.Q206R	NM_014174.2	NP_054893.1	WXS	Illumina GAIIx	Phase_I	Q9P016	THYN1_HUMAN		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)	6	1078	-	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	206					Q567Q2|Q9H3L4|Q9HC20	Missense_Mutation	SNP	ENST00000341541.3	37	c.617A>G	CCDS8496.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.222881	0.58668	.	.	ENSG00000151500	ENST00000392595;ENST00000341541;ENST00000392594	.	.	.	5.73	4.58	0.56647	EVE domain (1);PUA-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86171	0.5869	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87853	0.2659	9	0.48119	T	0.1	-16.1392	11.7768	0.51991	0.1322:0.0:0.0:0.8678	.	206	Q9P016	THYN1_HUMAN	R	206	.	ENSP00000341657:Q206R	Q	-	2	0	THYN1	133623927	1.000000	0.71417	0.735000	0.30896	0.320000	0.28249	7.421000	0.80204	0.966000	0.38159	0.533000	0.62120	CAG		0.468	THYN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393599.1	NM_014174		5	56	0	0	0	1	0	5	56				
FAM122C	159091	broad.mit.edu	37	X	133948799	133948799	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:133948799A>T	ENST00000370784.4	+	2	516		c.e2-1		FAM122C_ENST00000414371.2_Splice_Site|FAM122C_ENST00000370785.3_Splice_Site|FAM122C_ENST00000445123.1_Splice_Site	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C											endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTCTTTTTAGTTTTAATTC	0.338																																						ENST00000445123.1																			0				endometrium(2)|kidney(1)|lung(2)	5						c.e3-1		family with sequence similarity 122C							60.0	60.0	60.0					X																	133948799		2202	4300	6502	SO:0001630	splice_region_variant	159091							g.chrX:133948799A>T	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.111-1A>T	X.37:g.133948799A>T			Somatic				FAM122C_ENST00000414371.2_Splice_Site|FAM122C_ENST00000370784.4_Splice_Site|FAM122C_ENST00000370785.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q6P4D5	F222C_HUMAN			3	274	+	Acute lymphoblastic leukemia(192;0.000127)							F5H036|Q8WVK9	Splice_Site	SNP	ENST00000370784.4	37		CCDS55501.1	.	.	.	.	.	.	.	.	.	.	a	10.31	1.313542	0.23908	.	.	ENSG00000156500	ENST00000414371;ENST00000370784;ENST00000370785	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7226	0.46048	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM122C	133776465	1.000000	0.71417	0.663000	0.29738	0.151000	0.21798	4.668000	0.61568	1.800000	0.52685	0.466000	0.42574	.		0.338	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819	Intron	9	98	0	0	0	1	0	9	98				
ASB13	79754	broad.mit.edu	37	10	5690940	5690940	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:5690940G>A	ENST00000357700.6	-	4	536	c.510C>T	c.(508-510)ctC>ctT	p.L170L	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	170					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		CACCTGCATTGAGCAGCACTT	0.587																																						ENST00000357700.6																			0				NS(1)|endometrium(3)|lung(3)|ovary(1)	8						c.(508-510)ctC>ctT		ankyrin repeat and SOCS box containing 13							119.0	107.0	111.0					10																	5690940		2203	4300	6503	SO:0001819	synonymous_variant	79754				intracellular signal transduction		protein binding	g.chr10:5690940G>A	AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"""Ankyrin repeat domain containing"""	19765	protein-coding gene	gene with protein product		615055	"""ankyrin repeat and SOCS box-containing 13"""			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.510C>T	10.37:g.5690940G>A			Somatic				ASB13_ENST00000479033.1_5'UTR	p.L170L	NM_024701.3	NP_078977.2	WXS	Illumina GAIIx	Phase_I	Q8WXK3	ASB13_HUMAN		GBM - Glioblastoma multiforme(2;9.59e-09)	4	536	-			170					A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Silent	SNP	ENST00000357700.6	37	c.510C>T	CCDS7070.1																																																																																				0.587	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046564.1			24	185	0	0	0	1	0	24	185				
FSIP1	161835	broad.mit.edu	37	15	40068678	40068678	+	Silent	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:40068678T>A	ENST00000350221.3	-	2	257	c.48A>T	c.(46-48)tcA>tcT	p.S16S	RP11-37C7.1_ENST00000558616.1_RNA	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	16								p.S16S(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TTCTTGAATTTGAAGCTGGTT	0.358																																						ENST00000350221.3																			1	Substitution - coding silent(1)	p.S16S(1)	kidney(1)	NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23						c.(46-48)tcA>tcT		fibrous sheath interacting protein 1							131.0	128.0	129.0					15																	40068678		2203	4300	6503	SO:0001819	synonymous_variant	161835							g.chr15:40068678T>A	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.48A>T	15.37:g.40068678T>A			Somatic				RP11-37C7.1_ENST00000558616.1_RNA	p.S16S	NM_152597.4	NP_689810.3	WXS	Illumina GAIIx	Phase_I	Q8NA03	FSIP1_HUMAN		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)	2	257	-		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)	16					Q6X2C8|Q86Y89	Silent	SNP	ENST00000350221.3	37	c.48A>T	CCDS10050.1																																																																																				0.358	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		59	80	0	0	0	1	0	59	80				
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G	rs370664533	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:62839353A>G	ENST00000328439.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000536311.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			2	Substitution - coding silent(2)	p.E268E(2)	prostate(1)|kidney(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(802-804)gaA>gaG		myelin transcription factor 1							19.0	19.0	19.0					20																	62839353		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839353A>G	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.804A>G	20.37:g.62839353A>G			Somatic				MYT1_ENST00000328439.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron	p.E268E			WXS	Illumina GAIIx	Phase_I	Q01538	MYT1_HUMAN			7	1168	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		268			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.804A>G	CCDS13558.1																																																																																				0.572	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		3	18	0	0	0	1	0	3	18				
MDH1	4190	broad.mit.edu	37	2	63834039	63834039	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:63834039T>A	ENST00000233114.8	+	9	1358	c.923T>A	c.(922-924)tTc>tAc	p.F308Y	MDH1_ENST00000544381.1_Missense_Mutation_p.F219Y|MDH1_ENST00000394423.1_Missense_Mutation_p.F308Y|MDH1_ENST00000409908.1_Missense_Mutation_p.F143Y|MDH1_ENST00000409476.1_Missense_Mutation_p.F184Y|MDH1_ENST00000539945.1_Missense_Mutation_p.F326Y	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	308					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	diiodophenylpyruvate reductase activity (GO:0047860)|L-malate dehydrogenase activity (GO:0030060)|malic enzyme activity (GO:0004470)|NAD binding (GO:0051287)	p.F308Y(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						ATTAATGATTTCTCACGTGAG	0.353																																						ENST00000233114.8																			1	Substitution - Missense(1)	p.F308Y(1)	kidney(1)	endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						c.(922-924)tTc>tAc		malate dehydrogenase 1, NAD (soluble)	NADH(DB00157)						83.0	85.0	84.0					2																	63834039		2203	4300	6503	SO:0001583	missense	4190				gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity	g.chr2:63834039T>A		CCDS1874.1, CCDS56121.1, CCDS56122.1	2p23	2012-10-02			ENSG00000014641	ENSG00000014641	1.1.1.37		6970	protein-coding gene	gene with protein product		154200					Standard	NM_005917		Approved		uc010ypv.2	P40925	OTTHUMG00000129512	ENST00000233114.8:c.923T>A	2.37:g.63834039T>A	ENSP00000233114:p.Phe308Tyr		Somatic				MDH1_ENST00000394423.1_Missense_Mutation_p.F308Y|MDH1_ENST00000544381.1_Missense_Mutation_p.F219Y|MDH1_ENST00000539945.1_Missense_Mutation_p.F326Y|MDH1_ENST00000409476.1_Missense_Mutation_p.F184Y|MDH1_ENST00000409908.1_Missense_Mutation_p.F143Y	p.F308Y	NM_005917.3	NP_005908.1	WXS	Illumina GAIIx	Phase_I	P40925	MDHC_HUMAN			9	1358	+			308					B2R5V5|B4DUN2|B7Z3I7|F5H098|Q6I9V0	Missense_Mutation	SNP	ENST00000233114.8	37	c.923T>A	CCDS1874.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985349	0.93044	.	.	ENSG00000014641	ENST00000233114;ENST00000409908;ENST00000409476;ENST00000539945;ENST00000544381;ENST00000394423	T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.76	5.76	0.90799	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.041315	0.85682	D	0.000000	T	0.81283	0.4790	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82756	-0.0300	10	0.62326	D	0.03	-24.9208	16.3786	0.83431	0.0:0.0:0.0:1.0	.	326;308	F5H098;P40925	.;MDHC_HUMAN	Y	308;143;184;326;219;308	ENSP00000233114:F308Y;ENSP00000386743:F143Y;ENSP00000386719:F184Y;ENSP00000438144:F326Y;ENSP00000446395:F219Y;ENSP00000377945:F308Y	ENSP00000233114:F308Y	F	+	2	0	MDH1	63687543	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.698000	0.84413	2.323000	0.78572	0.528000	0.53228	TTC		0.353	MDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251687.1			14	39	0	0	0	1	0	14	39				
IKBKB	3551	broad.mit.edu	37	8	42163859	42163859	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:42163859A>T	ENST00000520810.1	+	7	663		c.e7-1		IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000416505.2_Splice_Site|IKBKB_ENST00000519735.1_Splice_Site|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Splice_Site	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta						B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTTTTGTTTTAGTTAATACAC	0.438																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.e7-1		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						87.0	80.0	83.0					8																	42163859		2203	4300	6503	SO:0001630	splice_region_variant	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42163859A>T	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.478-1A>T	8.37:g.42163859A>T			Somatic				IKBKB_ENST00000519735.1_Splice_Site|IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000416505.2_Splice_Site		NM_001556.2	NP_001547.1	WXS	Illumina GAIIx	Phase_I	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		7	663	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)						B4DZ30|B4E0U4|O75327	Splice_Site	SNP	ENST00000520810.1	37		CCDS6128.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.595846	0.86953	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000519735;ENST00000520835	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2236	0.73333	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IKBKB	42283016	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	9.283000	0.95860	2.050000	0.60909	0.533000	0.62120	.		0.438	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1		Intron	5	71	0	0	0	1	0	5	71				
ARMC8	25852	broad.mit.edu	37	3	137960824	137960824	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:137960824G>A	ENST00000469044.1	+	11	1308	c.1037G>A	c.(1036-1038)aGg>aAg	p.R346K	ARMC8_ENST00000491704.1_Splice_Site_p.R304K|ARMC8_ENST00000358441.2_Splice_Site_p.R332K|ARMC8_ENST00000470821.1_Splice_Site_p.R346K|ARMC8_ENST00000471453.1_Splice_Site_p.R332K|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000485396.1_Splice_Site_p.R273K|ARMC8_ENST00000489213.1_Splice_Site_p.R304K|ARMC8_ENST00000481646.1_Splice_Site_p.R332K|ARMC8_ENST00000393058.3_Splice_Site_p.R336K|ARMC8_ENST00000538260.1_Splice_Site_p.R315K	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	346										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GATATTAAAAGGGTATGTTAT	0.378																																						ENST00000469044.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.e11+1		armadillo repeat containing 8							99.0	90.0	93.0					3																	137960824		2203	4300	6503	SO:0001630	splice_region_variant	25852						binding	g.chr3:137960824G>A		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1038+1G>A	3.37:g.137960824G>A			Somatic				ARMC8_ENST00000471453.1_Splice_Site_p.R332_splice|ARMC8_ENST00000470821.1_Splice_Site_p.R346_splice|ARMC8_ENST00000489213.1_Splice_Site_p.R304_splice|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Splice_Site_p.R304_splice|ARMC8_ENST00000358441.2_Splice_Site_p.R332_splice|ARMC8_ENST00000485396.1_Splice_Site_p.R273_splice|ARMC8_ENST00000481646.1_Splice_Site_p.R332_splice|ARMC8_ENST00000393058.3_Splice_Site_p.R336_splice|ARMC8_ENST00000538260.1_Splice_Site_p.R315_splice	p.R346_splice	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	WXS	Illumina GAIIx	Phase_I	Q8IUR7	ARMC8_HUMAN			11	1308	+			346					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Splice_Site	SNP	ENST00000469044.1	37	c.1038_splice		.	.	.	.	.	.	.	.	.	.	G	20.7	4.036021	0.75617	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000358441;ENST00000489213;ENST00000485396;ENST00000471453;ENST00000470821;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459	T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;2.26;1.53;0.43;2.26;2.25;0.43;-0.16	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70439	0.3224	L	0.47716	1.5	0.80722	D	1	P;P;P;B;B;B	0.47910	0.841;0.902;0.841;0.063;0.106;0.018	P;P;P;B;B;B	0.60173	0.745;0.87;0.745;0.015;0.019;0.008	T	0.61347	-0.7081	10	0.14252	T	0.57	-6.7866	17.8686	0.88804	0.0:0.0:1.0:0.0	.	273;315;346;332;346;332	B7Z637;F5GWK4;Q8IUR7;Q8IUR7-2;G5E9V6;Q8IUR7-6	.;.;ARMC8_HUMAN;.;.;.	K	332;346;304;332;304;273;332;346;315;336;240;203	ENSP00000420333:R332K;ENSP00000419413:R346K;ENSP00000417304:R304K;ENSP00000351221:R332K;ENSP00000418412:R304K;ENSP00000417049:R273K;ENSP00000420440:R332K;ENSP00000418405:R346K;ENSP00000441592:R315K;ENSP00000376778:R336K	ENSP00000351221:R332K	R	+	2	0	ARMC8	139443514	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.852000	0.99516	2.817000	0.96982	0.563000	0.77884	AGG		0.378	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396	Missense_Mutation	104	143	0	0	0	1	0	104	143				
XRCC1	7515	broad.mit.edu	37	19	44055819	44055819	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:44055819G>A	ENST00000262887.5	-	10	1650	c.1103C>T	c.(1102-1104)cCc>cTc	p.P368L	XRCC1_ENST00000543982.1_Missense_Mutation_p.P337L|L34079.3_ENST00000597119.1_RNA			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	368	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GCTGTACTTGGGGGTGTTGGC	0.617								Other BER factors																														ENST00000262887.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1102-1104)cCc>cTc	Other BER factors	X-ray repair complementing defective repair in Chinese hamster cells 1							87.0	84.0	85.0					19																	44055819		2203	4300	6503	SO:0001583	missense	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44055819G>A	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1103C>T	19.37:g.44055819G>A	ENSP00000262887:p.Pro368Leu		Somatic				XRCC1_ENST00000543982.1_Missense_Mutation_p.P337L	p.P368L			WXS	Illumina GAIIx	Phase_I	P18887	XRCC1_HUMAN			10	1650	-		Prostate(69;0.0153)	368			BRCT 1.		Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	37	c.1103C>T	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451489	0.84209	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	T;T	0.11712	2.75;2.97	4.81	4.81	0.61882	BRCT (4);	0.000000	0.85682	D	0.000000	T	0.41811	0.1175	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.49485	-0.8935	10	0.51188	T	0.08	-24.5281	16.185	0.81946	0.0:0.0:1.0:0.0	.	337;368	F5H8D7;P18887	.;XRCC1_HUMAN	L	382;368;337;368	ENSP00000262887:P368L;ENSP00000443671:P337L	ENSP00000262887:P368L	P	-	2	0	XRCC1	48747659	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.492000	0.90471	2.588000	0.87417	0.563000	0.77884	CCC		0.617	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297		8	326	0	0	0	1	0	8	326				
MCC	4163	broad.mit.edu	37	5	112458445	112458445	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:112458445C>T	ENST00000302475.4	-	4	956	c.393G>A	c.(391-393)atG>atA	p.M131I	MCC_ENST00000408903.3_Missense_Mutation_p.M321I|MCC_ENST00000515367.2_Missense_Mutation_p.M68I|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	131					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GGTCTTGGTCCATGCTTCGAG	0.522																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(391-393)atG>atA		mutated in colorectal cancers							175.0	140.0	152.0					5																	112458445		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112458445C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.393G>A	5.37:g.112458445C>T	ENSP00000305617:p.Met131Ile		Somatic				MCC_ENST00000515367.2_Missense_Mutation_p.M68I|MCC_ENST00000408903.3_Missense_Mutation_p.M321I|MCC_ENST00000514701.3_5'UTR	p.M131I	NM_002387.2	NP_002378.1	WXS	Illumina GAIIx	Phase_I	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	4	956	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	131					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.393G>A	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082577	0.36758	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.77489	-1.1;2.59;1.42	5.76	3.05	0.35203	.	0.478146	0.25143	N	0.032814	T	0.55321	0.1913	N	0.08118	0	0.41610	D	0.9889	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.37291	-0.9712	10	0.15499	T	0.54	-7.3774	10.7127	0.45993	0.0:0.7923:0.0:0.2077	.	131;93;321;131	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	I	131;68;321	ENSP00000305617:M131I;ENSP00000421615:M68I;ENSP00000386227:M321I	ENSP00000305617:M131I	M	-	3	0	MCC	112486344	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	1.549000	0.36212	0.374000	0.24650	0.563000	0.77884	ATG		0.522	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		8	157	0	0	0	1	0	8	157				
ZYG11B	79699	broad.mit.edu	37	1	53245634	53245634	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:53245634T>A	ENST00000294353.6	+	4	1206	c.1061T>A	c.(1060-1062)gTg>gAg	p.V354E	ZYG11B_ENST00000443756.2_Missense_Mutation_p.V354E|ZYG11B_ENST00000545132.1_Missense_Mutation_p.V354E	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	354								p.V354E(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CTGACTCATGTGATGGAAAAA	0.363																																						ENST00000294353.6																			1	Substitution - Missense(1)	p.V354E(1)	kidney(1)	breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						c.(1060-1062)gTg>gAg		zyg-11 family member B, cell cycle regulator							136.0	132.0	134.0					1																	53245634		2203	4300	6503	SO:0001583	missense	79699						protein binding	g.chr1:53245634T>A	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1061T>A	1.37:g.53245634T>A	ENSP00000294353:p.Val354Glu		Somatic				ZYG11B_ENST00000545132.1_Missense_Mutation_p.V354E|ZYG11B_ENST00000443756.2_Missense_Mutation_p.V354E	p.V354E	NM_024646.2	NP_078922.1	WXS	Illumina GAIIx	Phase_I	Q9C0D3	ZY11B_HUMAN			4	1206	+			354					Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	c.1061T>A	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	T	6.345	0.431839	0.12045	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.07021	3.23;3.23;3.23	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.054749	0.64402	D	0.000001	T	0.06280	0.0162	L	0.31294	0.92	0.49483	D	0.999799	B;B	0.32467	0.372;0.006	B;B	0.29077	0.098;0.006	T	0.07809	-1.0753	10	0.02654	T	1	.	15.6846	0.77400	0.0:0.0:0.0:1.0	.	354;354	B4DK95;Q9C0D3	.;ZY11B_HUMAN	E	354	ENSP00000400522:V354E;ENSP00000441315:V354E;ENSP00000294353:V354E	ENSP00000294353:V354E	V	+	2	0	ZYG11B	53018222	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.008000	0.57103	2.098000	0.63641	0.528000	0.53228	GTG		0.363	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		53	86	0	0	0	1	0	53	86				
ABHD14A	25864	broad.mit.edu	37	3	52012054	52012054	+	Silent	SNP	G	G	A	rs201635694	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:52012054G>A	ENST00000273596.3	+	2	305	c.237G>A	c.(235-237)tcG>tcA	p.S79S	ABHD14B_ENST00000483233.1_Intron|ACY1_ENST00000458031.2_Missense_Mutation_p.R31H|ABHD14A_ENST00000491470.1_Silent_p.S79S|ABHD14A-ACY1_ENST00000463937.1_Silent_p.S79S	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	79						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.S79S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGGCAACTCGCCCATCTTTT	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		18569	0.001		0.001	False		,,,				2504	0.0					ENST00000458031.2																			1	Substitution - coding silent(1)	p.S79S(1)	kidney(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(91-93)cGc>cAc		aminoacylase 1	L-Aspartic Acid(DB00128)						38.0	35.0	36.0					3																	52012054		2202	4300	6502	SO:0001819	synonymous_variant	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52012054G>A	AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"""Abhydrolase domain containing"""	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.237G>A	3.37:g.52012054G>A			Somatic				ABHD14A-ACY1_ENST00000463937.1_Silent_p.S79S|ABHD14B_ENST00000483233.1_Intron|ABHD14A_ENST00000273596.3_Silent_p.S79S|ABHD14A_ENST00000491470.1_Silent_p.S79S	p.R31H			WXS	Illumina GAIIx	Phase_I	Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	323	+			0					Q6UXU8|Q9Y3T7	Missense_Mutation	SNP	ENST00000273596.3	37	c.92G>A	CCDS2843.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.15	3.041065	0.55003	.	.	ENSG00000114786	ENST00000458031	T	0.73575	-0.76	5.93	2.14	0.27477	.	.	.	.	.	T	0.61489	0.2351	.	.	.	0.52099	D	0.999949	B	0.26195	0.144	B	0.09377	0.004	T	0.57694	-0.7767	8	0.87932	D	0	-8.1994	6.2388	0.20778	0.0:0.6399:0.1333:0.2269	.	31	B4DNW0	.	H	31	ENSP00000390557:R31H	ENSP00000390557:R31H	R	+	2	0	RP11-155D18.11	51987094	0.048000	0.20356	0.755000	0.31263	0.994000	0.84299	0.005000	0.13129	0.421000	0.25980	-0.128000	0.14901	CGC		0.617	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	NM_015407		14	7	0	0	0	1	0	14	7				
RSU1	6251	broad.mit.edu	37	10	16824085	16824085	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:16824085T>A	ENST00000377921.3	-	2	411		c.e2-2		RSU1_ENST00000464074.2_Intron|RSU1_ENST00000602389.1_Splice_Site|RSU1_ENST00000345264.5_Splice_Site			Q15404	RSU1_HUMAN	Ras suppressor protein 1						cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		ATAAGGTAACTAAAAAGAAAA	0.358																																						ENST00000377921.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14						c.e2-2		Ras suppressor protein 1							110.0	113.0	112.0					10																	16824085		2203	4300	6503	SO:0001630	splice_region_variant	6251				cell junction assembly|signal transduction	cytosol	protein binding	g.chr10:16824085T>A	AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.110-2A>T	10.37:g.16824085T>A			Somatic				RSU1_ENST00000464074.2_Intron|RSU1_ENST00000345264.5_Splice_Site|RSU1_ENST00000602389.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q15404	RSU1_HUMAN		GBM - Glioblastoma multiforme(1;7.54e-08)	2	411	-								A8KA46|D3DRU3|Q6FI17	Splice_Site	SNP	ENST00000377921.3	37		CCDS7112.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.358992	0.82353	.	.	ENSG00000148484	ENST00000345264;ENST00000377921	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6646	0.56835	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RSU1	16864091	1.000000	0.71417	0.723000	0.30687	0.746000	0.42486	5.749000	0.68704	2.083000	0.62718	0.533000	0.62120	.		0.358	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	NM_012425, NM_152724	Intron	8	124	0	0	0	1	0	8	124				
PTPRO	5800	broad.mit.edu	37	12	15742486	15742486	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:15742486G>A	ENST00000281171.4	+	25	3838	c.3508G>A	c.(3508-3510)Gaa>Aaa	p.E1170K	PTPRO_ENST00000542557.1_Missense_Mutation_p.E331K|PTPRO_ENST00000445537.2_Missense_Mutation_p.E359K|PTPRO_ENST00000544244.1_Missense_Mutation_p.E331K|PTPRO_ENST00000442921.2_Missense_Mutation_p.E359K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E1142K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1170	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCTGGTGTCAGAAATGAGGTC	0.443																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(3508-3510)Gaa>Aaa		protein tyrosine phosphatase, receptor type, O							181.0	164.0	170.0					12																	15742486		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15742486G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3508G>A	12.37:g.15742486G>A	ENSP00000281171:p.Glu1170Lys		Somatic				PTPRO_ENST00000442921.2_Missense_Mutation_p.E359K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E1142K|PTPRO_ENST00000544244.1_Missense_Mutation_p.E331K|PTPRO_ENST00000542557.1_Missense_Mutation_p.E331K|PTPRO_ENST00000445537.2_Missense_Mutation_p.E359K	p.E1170K	NM_030667.2	NP_109592.1	WXS	Illumina GAIIx	Phase_I	Q16827	PTPRO_HUMAN			25	3838	+		Hepatocellular(102;0.244)	1170			Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.3508G>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.627889	0.66901	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.1	5.1	0.69264	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.134025	0.33875	N	0.004475	T	0.68091	0.2963	N	0.17594	0.5	0.58432	D	0.999999	B;P;P	0.37914	0.067;0.556;0.611	B;B;B	0.30105	0.062;0.067;0.111	T	0.68652	-0.5352	10	0.09590	T	0.72	.	18.701	0.91620	0.0:0.0:1.0:0.0	.	331;1142;1170	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	K	1170;1142;359;331;359;331	ENSP00000281171:E1170K;ENSP00000343434:E1142K;ENSP00000404188:E359K;ENSP00000437571:E331K;ENSP00000393449:E359K;ENSP00000439234:E331K	ENSP00000281171:E1170K	E	+	1	0	PTPRO	15633753	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.640000	0.98453	2.649000	0.89929	0.561000	0.74099	GAA		0.443	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			7	287	0	0	0	1	0	7	287				
PTPRK	5796	broad.mit.edu	37	6	128297850	128297850	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:128297850C>T	ENST00000368215.3	-	27	3917	c.3918G>A	c.(3916-3918)atG>atA	p.M1306I	PTPRK_ENST00000368226.4_Missense_Mutation_p.M1307I|PTPRK_ENST00000368213.5_Missense_Mutation_p.M1313I|PTPRK_ENST00000368210.3_Missense_Mutation_p.M1325I|PTPRK_ENST00000368227.3_Missense_Mutation_p.M1324I|PTPRK_ENST00000532331.1_Missense_Mutation_p.M1329I|PTPRK_ENST00000368207.3_Missense_Mutation_p.M1339I			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1306	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CATCACAGTCCATTGAACAAG	0.438																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(3970-3972)atG>atA		protein tyrosine phosphatase, receptor type, K							104.0	86.0	92.0					6																	128297850		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128297850C>T	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3918G>A	6.37:g.128297850C>T	ENSP00000357198:p.Met1306Ile		Somatic				PTPRK_ENST00000368207.3_Missense_Mutation_p.M1339I|PTPRK_ENST00000368210.3_Missense_Mutation_p.M1325I|PTPRK_ENST00000368226.4_Missense_Mutation_p.M1307I|PTPRK_ENST00000368215.3_Missense_Mutation_p.M1306I|PTPRK_ENST00000532331.1_Missense_Mutation_p.M1329I|PTPRK_ENST00000368213.5_Missense_Mutation_p.M1313I	p.M1324I			WXS	Illumina GAIIx	Phase_I	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	28	4338	-			1306			Tyrosine-protein phosphatase 2.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.3972G>A		.	.	.	.	.	.	.	.	.	.	C	10.46	1.355308	0.24512	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.56	5.56	0.83823	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.039016	0.85682	D	0.000000	T	0.66237	0.2769	N	0.01235	-0.94	0.80722	D	1	B;B;P;P	0.48503	0.302;0.257;0.911;0.892	B;B;P;P	0.57324	0.105;0.064;0.818;0.722	T	0.72984	-0.4125	10	0.15952	T	0.53	.	19.8818	0.96901	0.0:1.0:0.0:0.0	.	1329;1313;1306;1307	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	I	1307;1324;1329;1313;1325;1306;1339	ENSP00000357209:M1307I;ENSP00000357210:M1324I;ENSP00000432973:M1329I;ENSP00000357196:M1313I;ENSP00000357193:M1325I;ENSP00000357198:M1306I;ENSP00000357190:M1339I	ENSP00000357190:M1339I	M	-	3	0	PTPRK	128339543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.773000	0.95371	0.655000	0.94253	ATG		0.438	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			4	83	0	0	0	1	0	4	83				
ACSBG2	81616	broad.mit.edu	37	19	6156458	6156458	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:6156458A>T	ENST00000586696.1	+	5	679	c.403A>T	c.(403-405)Att>Ttt	p.I135F	ACSBG2_ENST00000588304.1_Missense_Mutation_p.I85F|ACSBG2_ENST00000588485.1_Intron|ACSBG2_ENST00000252669.5_Missense_Mutation_p.I135F|ACSBG2_ENST00000591403.1_Missense_Mutation_p.I135F			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	135					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGTGTTGGTATTTATGCCAC	0.428																																						ENST00000588304.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(253-255)Att>Ttt		acyl-CoA synthetase bubblegum family member 2							168.0	163.0	164.0					19																	6156458		2203	4300	6503	SO:0001583	missense	81616				cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	g.chr19:6156458A>T		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.403A>T	19.37:g.6156458A>T	ENSP00000465589:p.Ile135Phe		Somatic				ACSBG2_ENST00000586696.1_Missense_Mutation_p.I135F|ACSBG2_ENST00000591403.1_Missense_Mutation_p.I135F|ACSBG2_ENST00000252669.5_Missense_Mutation_p.I135F|ACSBG2_ENST00000588485.1_Intron	p.I85F			WXS	Illumina GAIIx	Phase_I	Q5FVE4	ACBG2_HUMAN			5	699	+			135					B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	c.253A>T	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.019550	0.75275	.	.	ENSG00000130377	ENST00000252669	T	0.50548	0.74	5.9	5.9	0.94986	AMP-dependent synthetase/ligase (1);	0.000000	0.39909	N	0.001234	T	0.75642	0.3877	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81978	-0.0685	10	0.87932	D	0	-39.6589	14.2842	0.66235	1.0:0.0:0.0:0.0	.	135;135	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	F	135	ENSP00000252669:I135F	ENSP00000252669:I135F	I	+	1	0	ACSBG2	6107458	1.000000	0.71417	0.950000	0.38849	0.745000	0.42441	6.591000	0.74090	2.251000	0.74343	0.528000	0.53228	ATT		0.428	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		7	628	0	0	0	1	0	7	628				
PQLC3	130814	broad.mit.edu	37	2	11304356	11304356	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:11304356C>A	ENST00000295083.3	+	4	498	c.323C>A	c.(322-324)gCc>gAc	p.A108D	PQLC3_ENST00000402361.1_Missense_Mutation_p.A108D|PQLC3_ENST00000441908.2_Missense_Mutation_p.A108D|PQLC3_ENST00000476787.1_Intron	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	108						integral component of membrane (GO:0016021)		p.A108D(1)		kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TTCATCCTTGCCCTGCAGAAG	0.458																																						ENST00000295083.3																			1	Substitution - Missense(1)	p.A108D(1)	kidney(1)	kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(322-324)gCc>gAc		PQ loop repeat containing 3							207.0	152.0	171.0					2																	11304356		2203	4300	6503	SO:0001583	missense	130814					integral to membrane		g.chr2:11304356C>A	BC027625	CCDS1679.1, CCDS62856.1, CCDS62857.1	2p25.1	2004-02-05	2005-07-19	2005-07-19	ENSG00000162976	ENSG00000162976			28503	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 22"""	C2orf22		12477932	Standard	NM_001282711		Approved	MGC33602	uc002rbc.3	Q8N755	OTTHUMG00000119055	ENST00000295083.3:c.323C>A	2.37:g.11304356C>A	ENSP00000295083:p.Ala108Asp		Somatic				PQLC3_ENST00000441908.2_Missense_Mutation_p.A108D|PQLC3_ENST00000476787.1_Intron|PQLC3_ENST00000402361.1_Missense_Mutation_p.A108D	p.A108D	NM_152391.3	NP_689604.1	WXS	Illumina GAIIx	Phase_I	Q8N755	PQLC3_HUMAN		Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)	4	498	+	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)		108					B2R8K1|B4DWA4	Missense_Mutation	SNP	ENST00000295083.3	37	c.323C>A	CCDS1679.1	.	.	.	.	.	.	.	.	.	.	C	7.080	0.570038	0.13560	.	.	ENSG00000162976	ENST00000445402;ENST00000295083;ENST00000441908;ENST00000402361	D;T;D;D	0.86769	-2.17;-0.57;-2.14;-2.1	5.68	3.86	0.44501	.	0.267496	0.42294	D	0.000733	T	0.80319	0.4601	L	0.38175	1.15	0.09310	N	0.999999	B;B	0.29341	0.242;0.242	B;B	0.24541	0.054;0.054	T	0.66810	-0.5829	10	0.34782	T	0.22	-27.8055	13.2975	0.60305	0.0:0.603:0.397:0.0	.	108;108	B4DWA4;Q8N755	.;PQLC3_HUMAN	D	131;108;108;108	ENSP00000410430:A131D;ENSP00000295083:A108D;ENSP00000406148:A108D;ENSP00000384129:A108D	ENSP00000295083:A108D	A	+	2	0	PQLC3	11221807	0.775000	0.28604	0.016000	0.15963	0.566000	0.35808	2.938000	0.48987	0.724000	0.32296	0.561000	0.74099	GCC		0.458	PQLC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239266.4	NM_152391		46	83	1	0	3.76628e-20	1	4.00005e-20	46	83				
IGKV1-6	28943	broad.mit.edu	37	2	89265853	89265853	+	RNA	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:89265853G>A	ENST00000464162.1	-	0	307									immunoglobulin kappa variable 1-6																		TGGTGAGAGTGAAATCTGTGC	0.478																																						ENST00000464162.1																			0																				165.0	158.0	160.0					2																	89265853		1878	4106	5984			28943							g.chr2:89265853G>A	M64858		2p11.2	2012-02-10			ENSG00000239855	ENSG00000239855		"""Immunoglobulins / IGK locus"""	5742	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151559		2.37:g.89265853G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	307	-									RNA	SNP	ENST00000464162.1	37																																																																																						0.478	IGKV1-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323134.2	NG_000834		6	309	0	0	0	1	0	6	309				
LRP2	4036	broad.mit.edu	37	2	170096194	170096194	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:170096194G>A	ENST00000263816.3	-	26	4422	c.4137C>T	c.(4135-4137)ttC>ttT	p.F1379F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1379	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGGCAAGTAAGAATCCCAATG	0.428																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(4135-4137)ttC>ttT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						118.0	115.0	116.0					2																	170096194		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170096194G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4137C>T	2.37:g.170096194G>A			Somatic					p.F1379F	NM_004525.2	NP_004516.2	WXS	Illumina GAIIx	Phase_I	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	26	4422	-			1379			EGF-like 5.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.4137C>T	CCDS2232.1																																																																																				0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		46	219	0	0	0	1	0	46	219				
HIST1H2BL	8340	broad.mit.edu	37	6	27775524	27775524	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:27775524C>T	ENST00000377401.2	-	1	185	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2AI_ENST00000358739.3_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	54					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						AGAAGAGATGCCGGTGTCGGG	0.582																																						ENST00000377401.2																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(160-162)gGc>gAc		histone cluster 1, H2bl							206.0	195.0	199.0					6																	27775524		2203	4300	6503	SO:0001583	missense	8340				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27775524C>T	Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"""Histones / Replication-dependent"""	4748	protein-coding gene	gene with protein product		602800	"""H2B histone family, member C"", ""histone 1, H2bl"""	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.161G>A	6.37:g.27775524C>T	ENSP00000366618:p.Gly54Asp		Somatic					p.G54D	NM_003519.3	NP_003510.1	WXS	Illumina GAIIx	Phase_I	Q99880	H2B1L_HUMAN			1	185	-			54					B2R5A3|Q52LW9	Missense_Mutation	SNP	ENST00000377401.2	37	c.161G>A	CCDS4625.1	.	.	.	.	.	.	.	.	.	.	.	23.5	4.420936	0.83559	.	.	ENSG00000185130	ENST00000377401	T	0.69435	-0.4	4.35	4.35	0.52113	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.85835	0.5789	H	0.98426	4.23	0.58432	D	0.999994	P	0.42161	0.772	P	0.56700	0.804	D	0.90595	0.4540	9	0.87932	D	0	.	16.7577	0.85504	0.0:1.0:0.0:0.0	.	54	Q99880	H2B1L_HUMAN	D	54	ENSP00000366618:G54D	ENSP00000366618:G54D	G	-	2	0	HIST1H2BL	27883503	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.331000	0.59273	2.335000	0.79485	0.655000	0.94253	GGC		0.582	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040153.1	NM_003519		4	177	0	0	0	1	0	4	177				
FLG2	388698	broad.mit.edu	37	1	152325175	152325175	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:152325175T>C	ENST00000388718.5	-	3	5159	c.5087A>G	c.(5086-5088)cAt>cGt	p.H1696R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1696					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTGTCCATGAGTAGTTCC	0.493																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5086-5088)cAt>cGt		filaggrin family member 2							413.0	360.0	378.0					1																	152325175		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325175T>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5087A>G	1.37:g.152325175T>C	ENSP00000373370:p.His1696Arg		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.H1696R	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5159	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1696					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5087A>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.388893	0.25118	.	.	ENSG00000143520	ENST00000388718	T	0.37752	1.18	4.43	4.43	0.53597	.	.	.	.	.	T	0.14485	0.0350	M	0.67397	2.05	0.09310	N	1	P	0.43750	0.816	B	0.34093	0.175	T	0.09314	-1.0680	9	0.16420	T	0.52	0.001	10.3995	0.44220	0.0:0.0:0.0:1.0	.	1696	Q5D862	FILA2_HUMAN	R	1696	ENSP00000373370:H1696R	ENSP00000373370:H1696R	H	-	2	0	FLG2	150591799	0.001000	0.12720	0.021000	0.16686	0.004000	0.04260	0.118000	0.15605	1.775000	0.52247	0.374000	0.22700	CAT		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		19	1240	0	0	0	1	0	19	1240				
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs34988824	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:32725596C>G	ENST00000437316.2	-	4	774	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Silent_p.L237L			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	241					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(709-711)ctG>ctC		major histocompatibility complex, class II, DQ beta 2																																				SO:0001819	synonymous_variant	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725596C>G	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.711G>C	6.37:g.32725596C>G			Somatic				HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.L237L	p.L237L			WXS	Illumina GAIIx	Phase_I	Q5SR06	Q5SR06_HUMAN			4	772	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Silent	SNP	ENST00000437316.2	37	c.711G>C																																																																																					0.562	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			4	19	0	0	0	1	0	4	19				
ALS2	57679	broad.mit.edu	37	2	202626520	202626520	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:202626520C>T	ENST00000264276.6	-	4	569	c.197G>A	c.(196-198)gGg>gAg	p.G66E	ALS2_ENST00000467448.1_Missense_Mutation_p.G66E|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	66					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GGGAAGAGTCCCAAAGCTGTA	0.383																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(196-198)gGg>gAg		amyotrophic lateral sclerosis 2 (juvenile)							71.0	66.0	68.0					2																	202626520		1824	4075	5899	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202626520C>T	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.197G>A	2.37:g.202626520C>T	ENSP00000264276:p.Gly66Glu		Somatic				ALS2_ENST00000467448.1_Missense_Mutation_p.G66E|ALS2_ENST00000496244.1_5'UTR	p.G66E	NM_020919.3	NP_065970.2	WXS	Illumina GAIIx	Phase_I	Q96Q42	ALS2_HUMAN			4	569	-			66					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.197G>A	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.964834	0.92791	.	.	ENSG00000003393	ENST00000264276;ENST00000467448;ENST00000409632;ENST00000410052	D;D;D;D	0.99245	-5.62;-5.62;-5.62;-5.62	6.07	6.07	0.98685	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.99582	0.9849	M	0.91561	3.22	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98459	1.0595	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	66;66;66;66	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	E	66	ENSP00000264276:G66E;ENSP00000429223:G66E;ENSP00000386384:G66E;ENSP00000386948:G66E	ENSP00000264276:G66E	G	-	2	0	ALS2	202334765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.885000	0.99019	0.655000	0.94253	GGG		0.383	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		5	149	0	0	0	1	0	5	149				
CLASP2	23122	broad.mit.edu	37	3	33725901	33725901	+	Silent	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:33725901C>A	ENST00000468888.2	-	6	640	c.594G>T	c.(592-594)gtG>gtT	p.V198V	CLASP2_ENST00000399362.4_Silent_p.V198V|CLASP2_ENST00000359576.5_Silent_p.V198V|CLASP2_ENST00000307312.7_5'UTR			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1251					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.V198V(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CTTTTTCTCCCACATGTCTAT	0.318																																						ENST00000399362.4																			1	Substitution - coding silent(1)	p.V198V(1)	kidney(1)	breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(592-594)gtG>gtT		cytoplasmic linker associated protein 2							141.0	141.0	141.0					3																	33725901		1815	4079	5894	SO:0001819	synonymous_variant	23122							g.chr3:33725901C>A	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.594G>T	3.37:g.33725901C>A			Somatic				CLASP2_ENST00000468888.2_Silent_p.V198V|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000359576.5_Silent_p.V198V	p.V198V	NM_015097.2	NP_055912.2	WXS	Illumina GAIIx	Phase_I	B2RTR1	B2RTR1_HUMAN			6	947	-			198					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Silent	SNP	ENST00000468888.2	37	c.594G>T																																																																																					0.318	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		59	61	1	0	4.97629e-18	1	5.27304e-18	59	61				
FAM124A	220108	broad.mit.edu	37	13	51825776	51825776	+	Silent	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:51825776G>T	ENST00000322475.8	+	3	408	c.273G>T	c.(271-273)cgG>cgT	p.R91R	FAM124A_ENST00000280057.6_Silent_p.R127R	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	91								p.R127R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GGCGGCGGCGGAAGCCCCCCA	0.706																																						ENST00000322475.8																			1	Substitution - coding silent(1)	p.R127R(1)	kidney(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26						c.(271-273)cgG>cgT		family with sequence similarity 124A							7.0	9.0	8.0					13																	51825776		2141	4187	6328	SO:0001819	synonymous_variant	220108							g.chr13:51825776G>T	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.273G>T	13.37:g.51825776G>T			Somatic				FAM124A_ENST00000280057.6_Silent_p.R127R	p.R91R	NM_001242312.1	NP_001229241.1	WXS	Illumina GAIIx	Phase_I	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	3	408	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	91					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Silent	SNP	ENST00000322475.8	37	c.273G>T	CCDS55900.1																																																																																				0.706	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		2	1	1	0	0.115264	1	0.116271	2	1				
EMC1	23065	broad.mit.edu	37	1	19559502	19559502	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:19559502G>A	ENST00000477853.1	-	14	1602	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	EMC1_ENST00000375208.3_Silent_p.I498I|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.I519I	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	520						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TGTCAATGTTGATCTCATTCT	0.493																																						ENST00000477853.1																			0											c.(1558-1560)atC>atT		ER membrane protein complex subunit 1							205.0	213.0	211.0					1																	19559502		2203	4300	6503	SO:0001819	synonymous_variant	23065							g.chr1:19559502G>A		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1560C>T	1.37:g.19559502G>A			Somatic				RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.I519I|EMC1_ENST00000375208.3_Silent_p.I498I	p.I520I	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1	WXS	Illumina GAIIx	Phase_I					14	1602	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	c.1560C>T	CCDS190.1	.	.	.	.	.	.	.	.	.	.	G	9.335	1.061433	0.19987	.	.	ENSG00000127463	ENST00000375197	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.3839	11.8972	0.52663	0.083:0.0:0.917:0.0	.	.	.	.	X	254	.	.	Q	-	1	0	KIAA0090	19432089	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.124000	0.42006	2.735000	0.93741	0.655000	0.94253	CAA		0.493	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		9	452	0	0	0	1	0	9	452				
FAM188B	84182	broad.mit.edu	37	7	30868348	30868348	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:30868348G>A	ENST00000265299.6	+	6	1204	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	376										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTGCCCTGCGGCTCGGTAGG	0.577																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1126-1128)cGg>cAg		family with sequence similarity 188, member B							121.0	125.0	124.0					7																	30868348		2033	4188	6221	SO:0001583	missense	84182							g.chr7:30868348G>A	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1127G>A	7.37:g.30868348G>A	ENSP00000265299:p.Arg376Gln		Somatic				INMT-FAM188B_ENST00000458257.1_3'UTR	p.R376Q	NM_032222.2	NP_115598.2	WXS	Illumina GAIIx	Phase_I	Q4G0A6	F188B_HUMAN			6	1204	+			376					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.1127G>A	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	G	0.303	-0.972480	0.02215	.	.	ENSG00000106125	ENST00000265299	T	0.09073	3.02	3.3	-1.98	0.07480	.	1.137110	0.06545	N	0.744044	T	0.02267	0.0070	N	0.00321	-1.65	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44742	-0.9308	10	0.87932	D	0	-37.2256	7.2327	0.26051	0.6464:0.0:0.3536:0.0	.	376	Q4G0A6	F188B_HUMAN	Q	376	ENSP00000265299:R376Q	ENSP00000265299:R376Q	R	+	2	0	FAM188B	30834873	0.682000	0.27624	0.190000	0.23270	0.006000	0.05464	0.000000	0.12993	-0.364000	0.08088	-2.040000	0.00418	CGG		0.577	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		287	1074	0	0	0	1	0	287	1074				
ZNF318	24149	broad.mit.edu	37	6	43306092	43306092	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:43306092C>T	ENST00000361428.2	-	10	5721	c.5644G>A	c.(5644-5646)Gat>Aat	p.D1882N	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1882					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ACAGGTGTATCTTGTGGGTTG	0.418																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(5644-5646)Gat>Aat		zinc finger protein 318							76.0	79.0	78.0					6																	43306092		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43306092C>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5644G>A	6.37:g.43306092C>T	ENSP00000354964:p.Asp1882Asn		Somatic				ZNF318_ENST00000318149.3_Intron	p.D1882N	NM_014345.2	NP_055160.2	WXS	Illumina GAIIx	Phase_I	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	5721	-			1882					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.5644G>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480494	0.63849	.	.	ENSG00000171467	ENST00000361428	T	0.13307	2.6	6.16	-0.353	0.12594	.	0.822214	0.10791	N	0.633694	T	0.03305	0.0096	L	0.27053	0.805	0.46396	D	0.999026	P	0.46142	0.873	B	0.42361	0.385	T	0.54166	-0.8334	10	0.23891	T	0.37	-3.6802	5.913	0.19039	0.1295:0.5001:0.0:0.3705	.	1882	Q5VUA4	ZN318_HUMAN	N	1882	ENSP00000354964:D1882N	ENSP00000354964:D1882N	D	-	1	0	ZNF318	43414070	0.000000	0.05858	0.450000	0.26969	0.886000	0.51366	-0.925000	0.03992	0.167000	0.19631	0.650000	0.86243	GAT		0.418	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		13	144	0	0	0	1	0	13	144				
TMCC3	57458	broad.mit.edu	37	12	94965356	94965356	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:94965356G>A	ENST00000261226.4	-	4	1420	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	TMCC3_ENST00000551457.1_Missense_Mutation_p.S399F	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	430						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CGCGATGGTGGACACACACAC	0.493																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(1288-1290)tCc>tTc		transmembrane and coiled-coil domain family 3							250.0	227.0	234.0					12																	94965356		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94965356G>A	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1289C>T	12.37:g.94965356G>A	ENSP00000261226:p.Ser430Phe		Somatic				TMCC3_ENST00000551457.1_Missense_Mutation_p.S399F	p.S430F	NM_020698.2	NP_065749.2	WXS	Illumina GAIIx	Phase_I	Q9ULS5	TMCC3_HUMAN			4	1420	-			430					Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.1289C>T	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620808	0.87460	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.59224	0.28;0.28	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.78266	0.4256	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.81315	-0.0988	10	0.87932	D	0	-25.4437	19.0192	0.92906	0.0:0.0:1.0:0.0	.	430	Q9ULS5	TMCC3_HUMAN	F	430;399	ENSP00000261226:S430F;ENSP00000449888:S399F	ENSP00000261226:S430F	S	-	2	0	TMCC3	93489487	1.000000	0.71417	0.997000	0.53966	0.781000	0.44180	9.789000	0.99068	2.495000	0.84180	0.561000	0.74099	TCC		0.493	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		140	778	0	0	0	1	0	140	778				
ALPK2	115701	broad.mit.edu	37	18	56247390	56247390	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr18:56247390A>T	ENST00000361673.3	-	4	831	c.618T>A	c.(616-618)agT>agA	p.S206R	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	206						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTCTGTGTTACTTGGATCAT	0.403																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(616-618)agT>agA		alpha-kinase 2							157.0	166.0	163.0					18																	56247390		2183	4283	6466	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56247390A>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.618T>A	18.37:g.56247390A>T	ENSP00000354991:p.Ser206Arg		Somatic					p.S206R	NM_052947.3	NP_443179.3	WXS	Illumina GAIIx	Phase_I	Q86TB3	ALPK2_HUMAN			4	831	-			206					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.618T>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	10.45	1.353365	0.24512	.	.	ENSG00000198796	ENST00000361673	T	0.42900	0.96	5.64	0.281	0.15687	.	.	.	.	.	T	0.21307	0.0513	N	0.22421	0.69	0.09310	N	1	B	0.26002	0.139	B	0.19391	0.025	T	0.26155	-1.0111	9	0.10636	T	0.68	-0.7841	4.8253	0.13412	0.5327:0.3043:0.163:0.0	.	206	Q86TB3	ALPK2_HUMAN	R	206	ENSP00000354991:S206R	ENSP00000354991:S206R	S	-	3	2	ALPK2	54398370	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.393000	0.07305	-0.170000	0.10816	-0.371000	0.07208	AGT		0.403	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		6	308	0	0	0	1	0	6	308				
DSEL	92126	broad.mit.edu	37	18	65179125	65179125	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr18:65179125C>T	ENST00000310045.7	-	2	4224	c.2751G>A	c.(2749-2751)aaG>aaA	p.K917K	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	907					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TATCTGACACCTTCCATTCAC	0.423																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2749-2751)aaG>aaA		dermatan sulfate epimerase-like							79.0	79.0	79.0					18																	65179125		2203	4300	6503	SO:0001819	synonymous_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179125C>T	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2751G>A	18.37:g.65179125C>T			Somatic				CTD-2541J13.2_ENST00000583493.1_RNA	p.K917K	NM_032160.2	NP_115536.1	WXS	Illumina GAIIx	Phase_I	Q8IZU8	DSEL_HUMAN			2	4224	-		Esophageal squamous(42;0.129)	907					Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	c.2751G>A	CCDS11995.1																																																																																				0.423	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		9	85	0	0	0	1	0	9	85				
ALG10B	144245	broad.mit.edu	37	12	38714411	38714411	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:38714411G>A	ENST00000308742.4	+	3	1134	c.818G>A	c.(817-819)gGa>gAa	p.G273E	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	273					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GTTAATGGTGGAATTGTTATT	0.358																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(817-819)gGa>gAa		ALG10B, alpha-1,2-glucosyltransferase							171.0	173.0	172.0					12																	38714411		2203	4296	6499	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714411G>A	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.818G>A	12.37:g.38714411G>A	ENSP00000310120:p.Gly273Glu		Somatic				ALG10B_ENST00000551464.1_Intron	p.G273E	NM_001013620.3	NP_001013642.1	WXS	Illumina GAIIx	Phase_I	Q5I7T1	AG10B_HUMAN			3	1134	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	273					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.818G>A	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	a	19.66	3.869068	0.72065	.	.	ENSG00000175548	ENST00000308742	T	0.55930	0.49	3.23	3.23	0.37069	.	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82080	-0.0634	10	0.87932	D	0	.	12.7261	0.57173	0.0:0.0:1.0:0.0	.	273	Q5I7T1	AG10B_HUMAN	E	273	ENSP00000310120:G273E	ENSP00000310120:G273E	G	+	2	0	ALG10B	37000678	1.000000	0.71417	0.978000	0.43139	0.845000	0.48019	9.123000	0.94387	2.103000	0.63969	0.643000	0.83706	GGA		0.358	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		9	240	0	0	0	1	0	9	240				
NLRX1	79671	broad.mit.edu	37	11	119053914	119053914	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:119053914G>A	ENST00000409109.1	+	10	3281	c.2694G>A	c.(2692-2694)gtG>gtA	p.V898V	NLRX1_ENST00000409265.4_Intron|NLRX1_ENST00000409991.1_Silent_p.V898V|PDZD3_ENST00000531114.1_5'Flank|NLRX1_ENST00000292199.2_Silent_p.V898V|PDZD3_ENST00000355547.5_5'Flank|PDZD3_ENST00000525131.1_5'Flank|NLRX1_ENST00000525863.1_Intron|PDZD3_ENST00000392817.2_5'Flank|PDZD3_ENST00000322712.4_5'Flank	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	898	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGGTGGTGGTGTCACTGACAG	0.612																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(2692-2694)gtG>gtA		NLR family member X1							87.0	80.0	82.0					11																	119053914		2200	4295	6495	SO:0001819	synonymous_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119053914G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2694G>A	11.37:g.119053914G>A			Somatic				NLRX1_ENST00000292199.2_Silent_p.V898V|NLRX1_ENST00000409265.4_Intron|NLRX1_ENST00000525863.1_Intron|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000409991.1_Silent_p.V898V	p.V898V			WXS	Illumina GAIIx	Phase_I	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	10	3281	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	898			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	ENST00000409109.1	37	c.2694G>A	CCDS8416.1																																																																																				0.612	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		3	66	0	0	0	1	0	3	66				
SEPT10	151011	broad.mit.edu	37	2	110350690	110350690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:110350690G>A	ENST00000397712.2	-	2	415	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	SEPT10_ENST00000437928.1_5'UTR|SEPT10_ENST00000334001.6_5'UTR|SEPT10_ENST00000545389.1_Nonsense_Mutation_p.Q13*|AC011753.5_ENST00000425576.1_RNA|SEPT10_ENST00000356688.4_Nonsense_Mutation_p.Q13*|SEPT10_ENST00000397714.2_Intron|SEPT10_ENST00000415095.1_Nonsense_Mutation_p.Q13*	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	13					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						ATGTGAGACTGAAAGAGCTAA	0.328																																						ENST00000356688.4																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						c.(37-39)Cag>Tag		septin 10							109.0	103.0	105.0					2																	110350690		1853	4106	5959	SO:0001587	stop_gained	151011				cell cycle|cell division	septin complex	GTP binding	g.chr2:110350690G>A	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.37C>T	2.37:g.110350690G>A	ENSP00000380824:p.Gln13*		Somatic				SEPT10_ENST00000397712.2_Nonsense_Mutation_p.Q13*|SEPT10_ENST00000397714.2_Intron|SEPT10_ENST00000545389.1_Nonsense_Mutation_p.Q13*|SEPT10_ENST00000437928.1_5'UTR|SEPT10_ENST00000415095.1_Nonsense_Mutation_p.Q13*|SEPT10_ENST00000334001.6_5'UTR	p.Q13*			WXS	Illumina GAIIx	Phase_I	Q9P0V9	SEP10_HUMAN			2	352	-			13					B3KRQ9|Q86VP5|Q9HAH6	Nonsense_Mutation	SNP	ENST00000397712.2	37	c.37C>T	CCDS46383.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805576	0.31961	.	.	ENSG00000186522	ENST00000356688;ENST00000397712;ENST00000545389;ENST00000415095;ENST00000423520;ENST00000442746	.	.	.	3.67	3.67	0.42095	.	4.229880	0.00550	N	0.000245	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	11.1902	0.48681	0.0:0.0:1.0:0.0	.	.	.	.	X	13;13;13;13;13;4	.	ENSP00000349116:Q13X	Q	-	1	0	SEPT10	109707979	1.000000	0.71417	0.771000	0.31576	0.209000	0.24338	2.305000	0.43664	2.355000	0.79922	0.655000	0.94253	CAG		0.328	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710		10	262	0	0	0	1	0	10	262				
PADI3	51702	broad.mit.edu	37	1	17575701	17575701	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:17575701G>A	ENST00000375460.3	+	1	109	c.69G>A	c.(67-69)gtG>gtA	p.V23V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	23					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGCTGGCGTGGAGACCCTCG	0.612																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(67-69)gtG>gtA		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						151.0	129.0	136.0					1																	17575701		2203	4300	6503	SO:0001819	synonymous_variant	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17575701G>A	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.69G>A	1.37:g.17575701G>A			Somatic					p.V23V	NM_016233.2	NP_057317.2	WXS	Illumina GAIIx	Phase_I	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	1	109	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	23					Q58EY7|Q70SX5	Silent	SNP	ENST00000375460.3	37	c.69G>A	CCDS179.1																																																																																				0.612	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			27	213	0	0	0	1	0	27	213				
LILRB5	10990	broad.mit.edu	37	19	54758770	54758770	+	Silent	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:54758770G>C	ENST00000316219.5	-	6	1190	c.1083C>G	c.(1081-1083)gcC>gcG	p.A361A	LILRB5_ENST00000449561.2_Silent_p.A361A|LILRB5_ENST00000345866.6_Silent_p.A261A|LILRB5_ENST00000450632.1_Silent_p.A352A	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	361	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.A361A(1)|p.A352A(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCGGGGGATGGGCTGCCCCCT	0.552																																						ENST00000450632.1																			2	Substitution - coding silent(2)	p.A361A(1)|p.A352A(1)	kidney(2)	NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1054-1056)gcC>gcG		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							69.0	68.0	68.0					19																	54758770		2203	4300	6503	SO:0001819	synonymous_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54758770G>C	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1083C>G	19.37:g.54758770G>C			Somatic				LILRB5_ENST00000449561.2_Silent_p.A361A|LILRB5_ENST00000345866.6_Silent_p.A261A|LILRB5_ENST00000316219.5_Silent_p.A361A	p.A352A			WXS	Illumina GAIIx	Phase_I	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1133	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		361			Ig-like C2-type 4.		Q8N760	Silent	SNP	ENST00000316219.5	37	c.1056C>G	CCDS12885.1																																																																																				0.552	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			30	43	0	0	0	1	0	30	43				
TGFBR2	7048	broad.mit.edu	37	3	30713692	30713692	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:30713692G>A	ENST00000295754.5	+	4	1399	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	TGFBR2_ENST00000359013.4_Silent_p.R364R	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	339	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ACCTGACGCGGCATGTCATCA	0.612																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(1015-1017)cgG>cgA		transforming growth factor, beta receptor II (70/80kDa)							112.0	100.0	104.0					3																	30713692		2203	4300	6503	SO:0001819	synonymous_variant	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713692G>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1017G>A	3.37:g.30713692G>A			Somatic				TGFBR2_ENST00000359013.4_Silent_p.R364R	p.R339R	NM_003242.5	NP_003233.4	WXS	Illumina GAIIx	Phase_I	P37173	TGFR2_HUMAN			4	1399	+			339			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Silent	SNP	ENST00000295754.5	37	c.1017G>A	CCDS2648.1																																																																																				0.612	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			4	341	0	0	0	1	0	4	341				
ATP4A	495	broad.mit.edu	37	19	36045932	36045932	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:36045932C>T	ENST00000262623.3	-	16	2401	c.2373G>A	c.(2371-2373)ttG>ttA	p.L791L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	791					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TGTTCTTGGTCAATGTGTAGG	0.572																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2371-2373)ttG>ttA		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						317.0	241.0	267.0					19																	36045932		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36045932C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2373G>A	19.37:g.36045932C>T			Somatic					p.L791L	NM_000704.2	NP_000695.2	WXS	Illumina GAIIx	Phase_I	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		16	2401	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		791					O00738	Silent	SNP	ENST00000262623.3	37	c.2373G>A	CCDS12467.1																																																																																				0.572	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		5	381	0	0	0	1	0	5	381				
RBM41	55285	broad.mit.edu	37	X	106310925	106310925	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:106310925T>A	ENST00000372479.3	-	7	1106		c.e7-2		RBM41_ENST00000372487.1_Splice_Site	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41								nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TCTCCTTATCTAAAAGAGAAA	0.308																																						ENST00000372487.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						c.e7-2		RNA binding motif protein 41							95.0	89.0	91.0					X																	106310925		2203	4299	6502	SO:0001630	splice_region_variant	55285						nucleotide binding|RNA binding	g.chrX:106310925T>A	BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"""RNA binding motif (RRM) containing"""	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.1076-2A>T	X.37:g.106310925T>A			Somatic				RBM41_ENST00000372479.3_Splice_Site		NM_001171080.1	NP_001164551.1	WXS	Illumina GAIIx	Phase_I	Q96IZ5	RBM41_HUMAN			7	1102	-								Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Splice_Site	SNP	ENST00000372479.3	37		CCDS14526.1	.	.	.	.	.	.	.	.	.	.	t	15.31	2.794760	0.50102	.	.	ENSG00000089682	ENST00000372487;ENST00000372479	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.755	0.46232	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBM41	106197581	1.000000	0.71417	0.998000	0.56505	0.703000	0.40648	6.005000	0.70716	1.809000	0.52856	0.417000	0.27973	.		0.308	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057819.1	NM_018301	Intron	4	68	0	0	0	1	0	4	68				
MFRP	83552	broad.mit.edu	37	11	119212284	119212284	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:119212284C>A	ENST00000530681.1	-	13	1858	c.1714G>T	c.(1714-1716)Gac>Tac	p.D572Y	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Missense_Mutation_p.D572Y|MFRP_ENST00000449574.2_Missense_Mutation_p.D572Y|MFRP_ENST00000360167.4_Missense_Mutation_p.D454Y|C1QTNF5_ENST00000525657.1_5'Flank|C1QTNF5_ENST00000528368.1_5'Flank	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	572	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D572Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GCTTCCAGGTCAGCTGCCTCT	0.662																																						ENST00000555262.1																			1	Substitution - Missense(1)	p.D572Y(1)	kidney(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18						c.(1714-1716)Gac>Tac		membrane frizzled-related protein							19.0	24.0	23.0					11																	119212284		2192	4284	6476	SO:0001583	missense	83552							g.chr11:119212284C>A	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1714G>T	11.37:g.119212284C>A	ENSP00000456533:p.Asp572Tyr		Somatic				MFRP_ENST00000530681.1_Missense_Mutation_p.D572Y|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.D454Y|MFRP_ENST00000449574.2_Missense_Mutation_p.D572Y	p.D572Y	NM_001278431.1	NP_001265360.1	WXS	Illumina GAIIx	Phase_I				BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	13	1873	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)						B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.1714G>T	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135261	0.56828	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.58506	0.33;0.33;0.33	4.22	3.29	0.37713	Frizzled domain (4);	0.272990	0.35646	N	0.003073	T	0.67126	0.2860	M	0.72624	2.21	0.32217	N	0.575737	D;D	0.65815	0.995;0.988	P;P	0.60789	0.879;0.853	T	0.72293	-0.4336	10	0.56958	D	0.05	-9.4655	7.2081	0.25919	0.0:0.734:0.1723:0.0936	.	454;572	B4DHN8;Q9BY79	.;MFRP_HUMAN	Y	572;572;454	ENSP00000450509:D572Y;ENSP00000391664:D572Y;ENSP00000353291:D454Y	ENSP00000353291:D454Y	D	-	1	0	MFRP	118717494	0.998000	0.40836	0.992000	0.48379	0.661000	0.39034	3.428000	0.52792	0.942000	0.37525	0.561000	0.74099	GAC		0.662	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		3	4	1	0	0.115264	1	0.116271	3	4				
KRBA1	84626	broad.mit.edu	37	7	149418599	149418599	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:149418599G>A	ENST00000485033.2	+	4	439	c.439G>A	c.(439-441)Ggg>Agg	p.G147R	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.G147R|KRBA1_ENST00000255992.10_Missense_Mutation_p.G147R			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	147										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AACTGGTGACGGGGTCCAGGG	0.637																																						ENST00000255992.10																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(439-441)Ggg>Agg		KRAB-A domain containing 1							22.0	25.0	24.0					7																	149418599		2056	4203	6259	SO:0001583	missense	84626							g.chr7:149418599G>A	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.439G>A	7.37:g.149418599G>A	ENSP00000420112:p.Gly147Arg		Somatic				KRBA1_ENST00000319551.8_Missense_Mutation_p.G147R|KRBA1_ENST00000485033.2_Missense_Mutation_p.G147R|KRBA1_ENST00000479560.1_3'UTR	p.G147R	NM_032534.2	NP_115923.2	WXS	Illumina GAIIx	Phase_I	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	838	+	Melanoma(164;0.165)|Ovarian(565;0.177)		147					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37	c.439G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.486|2.486	-0.318562|-0.318562	0.05386|0.05386	.|.	.|.	ENSG00000133619|ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033|ENST00000467333	T;T;T|.	0.30448|.	1.53;1.53;1.53|.	3.43|3.43	-6.73|-6.73	0.01749|0.01749	.|.	1.117170|.	0.06953|.	N|.	0.815001|.	T|T	0.11324|0.11324	0.0276|0.0276	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.15141|.	0.012|.	B|.	0.10450|.	0.005|.	T|T	0.20140|0.20140	-1.0284|-1.0284	10|5	0.18276|.	T|.	0.48|.	0.0653|0.0653	0.9414|0.9414	0.01356|0.01356	0.3698:0.27:0.2154:0.1448|0.3698:0.27:0.2154:0.1448	.|.	147|.	A5PL33|.	KRBA1_HUMAN|.	R|Q	147|56	ENSP00000255992:G147R;ENSP00000317165:G147R;ENSP00000420112:G147R|.	ENSP00000255992:G147R|.	G|R	+|+	1|2	0|0	KRBA1|KRBA1	149049532|149049532	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.352000|-0.352000	0.07701|0.07701	-1.669000|-1.669000	0.01470|0.01470	0.591000|0.591000	0.81541|0.81541	GGG|CGG		0.637	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		3	27	0	0	0	1	0	3	27				
FMO5	2330	broad.mit.edu	37	1	146672922	146672922	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:146672922T>A	ENST00000254090.4	-	7	1383	c.995A>T	c.(994-996)tAt>tTt	p.Y332F	FMO5_ENST00000441068.2_Missense_Mutation_p.Y332F|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000369272.3_Intron	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	332						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.Y332F(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GTCAAAGCTATAGCCTGTGGC	0.438																																						ENST00000254090.4																			2	Substitution - Missense(2)	p.Y332F(2)	kidney(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25						c.(994-996)tAt>tTt		flavin containing monooxygenase 5							104.0	99.0	101.0					1																	146672922		2203	4300	6503	SO:0001583	missense	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146672922T>A	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.995A>T	1.37:g.146672922T>A	ENSP00000254090:p.Tyr332Phe		Somatic				FMO5_ENST00000369272.3_Intron|FMO5_ENST00000441068.2_Missense_Mutation_p.Y332F|RP11-337C18.8_ENST00000607149.1_RNA	p.Y332F	NM_001461.2	NP_001452.2	WXS	Illumina GAIIx	Phase_I	P49326	FMO5_HUMAN			7	1383	-	all_hematologic(923;0.0487)		332					B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	37	c.995A>T	CCDS926.1	.	.	.	.	.	.	.	.	.	.	.	28.9	4.960181	0.92791	.	.	ENSG00000131781	ENST00000441068;ENST00000254090	T;T	0.62105	0.05;0.05	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.72700	0.3493	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.97110	1.0;0.988	T	0.74182	-0.3748	10	0.46703	T	0.11	-17.2219	14.7743	0.69713	0.0:0.0:0.0:1.0	.	332;332	P49326;C9JJD1	FMO5_HUMAN;.	F	332	ENSP00000416011:Y332F;ENSP00000254090:Y332F	ENSP00000254090:Y332F	Y	-	2	0	FMO5	145139546	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.011000	0.88624	2.371000	0.80710	0.533000	0.62120	TAT		0.438	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		25	287	0	0	0	1	0	25	287				
CFAP61	26074	broad.mit.edu	37	20	20071504	20071504	+	Missense_Mutation	SNP	G	G	A	rs371793125		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:20071504G>A	ENST00000245957.5	+	7	659	c.583G>A	c.(583-585)Gat>Aat	p.D195N	C20orf26_ENST00000451767.2_Missense_Mutation_p.D195N|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.D195N|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		195								p.D195N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGACCATGACGATCTCATGCC	0.438																																						ENST00000245957.5																			1	Substitution - Missense(1)	p.D195N(1)	lung(1)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(583-585)Gat>Aat		chromosome 20 open reading frame 26		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	199.0	183.0	189.0		583,583	3.6	0.8	20		189	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C20orf26	NM_015585.3,NM_001167816.1	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	195/1238,195/471	20071504	1,13005	2203	4300	6503	SO:0001583	missense	26074							g.chr20:20071504G>A																												ENST00000245957.5:c.583G>A	20.37:g.20071504G>A	ENSP00000245957:p.Asp195Asn		Somatic				C20orf26_ENST00000377306.1_Missense_Mutation_p.D195N|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.D195N|C20orf26_ENST00000377309.2_5'UTR	p.D195N	NM_015585.3	NP_056400.3	WXS	Illumina GAIIx	Phase_I	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	7	659	+			195					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.583G>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530430	0.27387	0.0	1.16E-4	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767;ENST00000472660	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.62	3.61	0.41365	Acyl-CoA N-acyltransferase (2);	0.170524	0.49916	N	0.000121	T	0.39655	0.1086	M	0.78456	2.415	0.80722	D	1	B;P;P;B	0.49961	0.056;0.93;0.852;0.032	B;B;B;B	0.41946	0.018;0.371;0.202;0.018	T	0.38845	-0.9642	10	0.62326	D	0.03	.	10.2391	0.43301	0.0774:0.1352:0.7874:0.0	.	195;195;149;195	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	N	149;195;195;195;195;195;91	ENSP00000345553:D149N;ENSP00000245957:D195N;ENSP00000366521:D195N;ENSP00000414537:D195N;ENSP00000420498:D91N	ENSP00000245957:D195N	D	+	1	0	C20orf26	20019504	1.000000	0.71417	0.766000	0.31476	0.075000	0.17131	3.034000	0.49751	0.663000	0.31027	-0.150000	0.13652	GAT		0.438	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			37	1052	0	0	0	1	0	37	1052				
SLC25A17	10478	broad.mit.edu	37	22	41190586	41190586	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:41190586T>A	ENST00000435456.2	-	3	249		c.e3-2		SLC25A17_ENST00000542412.1_Intron|SLC25A17_ENST00000544408.1_Splice_Site|SLC25A17_ENST00000491545.1_Splice_Site	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17						ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TCTCATCAACTACAAGACCAA	0.383																																						ENST00000435456.2																			0				central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						c.e3-2		solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17							124.0	97.0	106.0					22																	41190586		2203	4300	6503	SO:0001630	splice_region_variant	10478				fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding	g.chr22:41190586T>A	Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"""Solute carriers"""	10987	protein-coding gene	gene with protein product	"""peroxisomal membrane protein (34kD)"""	606795	"""solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"""			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.116-2A>T	22.37:g.41190586T>A			Somatic				SLC25A17_ENST00000544408.1_Splice_Site|SLC25A17_ENST00000491545.1_Splice_Site|SLC25A17_ENST00000542412.1_Intron		NM_006358.2	NP_006349.1	WXS	Illumina GAIIx	Phase_I	O43808	PM34_HUMAN			3	249	-								A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Splice_Site	SNP	ENST00000435456.2	37		CCDS14005.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516712	0.64634	.	.	ENSG00000100372	ENST00000435456;ENST00000544408;ENST00000434185	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3384	0.55081	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC25A17	39520532	1.000000	0.71417	0.987000	0.45799	0.904000	0.53231	5.091000	0.64505	2.162000	0.67917	0.455000	0.32223	.		0.383	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	NM_006358	Intron	4	175	0	0	0	1	0	4	175				
COL6A3	1293	broad.mit.edu	37	2	238285451	238285451	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:238285451G>A	ENST00000295550.4	-	7	3486	c.3034C>T	c.(3034-3036)Ctc>Ttc	p.L1012F	COL6A3_ENST00000392003.2_Missense_Mutation_p.L605F|COL6A3_ENST00000346358.4_Missense_Mutation_p.L812F|COL6A3_ENST00000353578.4_Missense_Mutation_p.L806F|COL6A3_ENST00000392004.3_Missense_Mutation_p.L806F|COL6A3_ENST00000472056.1_Missense_Mutation_p.L405F|COL6A3_ENST00000347401.3_Missense_Mutation_p.L811F|COL6A3_ENST00000409809.1_Missense_Mutation_p.L806F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1012	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GATTTTAAGAGATTCACTATC	0.493																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3034-3036)Ctc>Ttc		collagen, type VI, alpha 3							225.0	227.0	227.0					2																	238285451		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238285451G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3034C>T	2.37:g.238285451G>A	ENSP00000295550:p.Leu1012Phe		Somatic				COL6A3_ENST00000392003.2_Missense_Mutation_p.L605F|COL6A3_ENST00000392004.3_Missense_Mutation_p.L806F|COL6A3_ENST00000353578.4_Missense_Mutation_p.L806F|COL6A3_ENST00000347401.3_Missense_Mutation_p.L811F|COL6A3_ENST00000346358.4_Missense_Mutation_p.L812F|COL6A3_ENST00000409809.1_Missense_Mutation_p.L806F|COL6A3_ENST00000472056.1_Missense_Mutation_p.L405F	p.L1012F	NM_004369.3	NP_004360.2	WXS	Illumina GAIIx	Phase_I	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	7	3486	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1012			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3034C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473664	0.43942	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.55	4.64	0.57946	.	0.000000	0.47455	D	0.000235	T	0.48003	0.1476	L	0.52364	1.645	0.45806	D	0.998683	D;D;B;D;D;D	0.89917	1.0;0.999;0.427;0.999;1.0;1.0	D;D;B;D;D;D	0.80764	0.973;0.991;0.17;0.987;0.994;0.982	T	0.38478	-0.9659	10	0.20519	T	0.43	.	8.9081	0.35537	0.0782:0.1505:0.7713:0.0	.	812;405;605;806;806;1012	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	F	1012;811;806;405;806;812;806;605	ENSP00000295550:L1012F;ENSP00000315609:L811F;ENSP00000315873:L806F;ENSP00000418285:L405F;ENSP00000386844:L806F;ENSP00000295546:L812F;ENSP00000375861:L806F;ENSP00000375860:L605F	ENSP00000295550:L1012F	L	-	1	0	COL6A3	237950190	1.000000	0.71417	0.782000	0.31804	0.319000	0.28217	2.347000	0.44036	1.276000	0.44395	0.655000	0.94253	CTC		0.493	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		8	1041	0	0	0	1	0	8	1041				
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000394173.4_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.R105W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567																																						ENST00000315599.7																			4	Substitution - Missense(4)	p.R129W(4)	endometrium(4)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(385-387)Cgg>Tgg		CD209 molecule							89.0	92.0	91.0					19																	7810767		2202	4297	6499	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810767G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.385C>T	19.37:g.7810767G>A	ENSP00000315477:p.Arg129Trp		Somatic				CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000394173.4_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W	p.R129W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	WXS	Illumina GAIIx	Phase_I	Q9NNX6	CD209_HUMAN			4	407	-			129			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.385C>T	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167766	0.38315	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;2.27	1.37	0.149	0.14863	.	.	.	.	.	T	0.24236	0.0587	L	0.28192	0.835	0.09310	N	1	B;B;D;D;B;D;B;B;B;B	0.64830	0.021;0.005;0.968;0.994;0.012;0.985;0.007;0.011;0.01;0.012	B;B;P;P;B;P;B;B;B;B	0.54815	0.008;0.008;0.534;0.761;0.005;0.663;0.002;0.006;0.003;0.009	T	0.12016	-1.0564	9	0.56958	D	0.05	.	4.5792	0.12250	0.0:0.0:0.6254:0.3746	.	129;105;85;85;105;129;129;105;105;129	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	W	129;129;105;85;129;85;113	ENSP00000315477:R129W;ENSP00000346373:R129W;ENSP00000315407:R105W;ENSP00000204801:R85W;ENSP00000301357:R85W	ENSP00000204801:R85W	R	-	1	2	CD209	7716767	0.000000	0.05858	0.010000	0.14722	0.462000	0.32619	-0.010000	0.12743	0.103000	0.17682	0.449000	0.29647	CGG		0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		7	603	0	0	0	1	0	7	603				
TLN2	83660	broad.mit.edu	37	15	63000819	63000819	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:63000819G>C	ENST00000561311.1	+	20	2521	c.2291G>C	c.(2290-2292)aGt>aCt	p.S764T	TLN2_ENST00000306829.6_Missense_Mutation_p.S764T			Q9Y4G6	TLN2_HUMAN	talin 2	764					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S764T(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACTACCGATAGTGAGCTCCTG	0.652																																						ENST00000561311.1																			1	Substitution - Missense(1)	p.S764T(1)	kidney(1)	NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(2290-2292)aGt>aCt		talin 2							56.0	49.0	52.0					15																	63000819		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63000819G>C	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.2291G>C	15.37:g.63000819G>C	ENSP00000453508:p.Ser764Thr		Somatic				TLN2_ENST00000306829.6_Missense_Mutation_p.S764T	p.S764T			WXS	Illumina GAIIx	Phase_I	Q9Y4G6	TLN2_HUMAN			20	2521	+			764					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.2291G>C	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	g	0.359	-0.940288	0.02322	.	.	ENSG00000171914	ENST00000306829	T	0.67865	-0.29	4.96	0.297	0.15762	.	0.577627	0.20403	N	0.093006	T	0.44138	0.1279	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21484	-1.0244	10	0.15952	T	0.53	0.1218	12.1616	0.54107	0.0:0.5016:0.3107:0.1877	.	764	Q9Y4G6	TLN2_HUMAN	T	764	ENSP00000303476:S764T	ENSP00000303476:S764T	S	+	2	0	TLN2	60788111	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.031000	0.12287	0.169000	0.19679	0.655000	0.94253	AGT		0.652	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			28	46	0	0	0	1	0	28	46				
DENND4B	9909	broad.mit.edu	37	1	153915470	153915470	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:153915470C>T	ENST00000361217.4	-	3	872	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	152	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGCCCCCTCTGCTGCCCGC	0.662																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(454-456)Gag>Aag		DENN/MADD domain containing 4B							38.0	45.0	43.0					1																	153915470		1961	4131	6092	SO:0001583	missense	9909							g.chr1:153915470C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.454G>A	1.37:g.153915470C>T	ENSP00000354597:p.Glu152Lys		Somatic					p.E152K	NM_014856.2	NP_055671.2	WXS	Illumina GAIIx	Phase_I	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		3	872	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		152			MABP.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.454G>A	CCDS44228.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.87|16.87	3.241135|3.241135	0.58995|0.58995	.|.	.|.	ENSG00000198837|ENSG00000198837	ENST00000361217;ENST00000368646|ENST00000472932	T;T|.	0.17370|.	2.28;2.28|.	4.84|4.84	4.84|4.84	0.62591|0.62591	MABP domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.47173|0.47173	0.1431|0.1431	L|L	0.34521|0.34521	1.04|1.04	0.50467|0.50467	D|D	0.999876|0.999876	P|.	0.51791|.	0.948|.	P|.	0.44518|.	0.452|.	T|T	0.40757|0.40757	-0.9546|-0.9546	9|5	0.23302|.	T|.	0.38|.	-5.2102|-5.2102	16.8579|16.8579	0.86010|0.86010	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	152|.	O75064|.	DEN4B_HUMAN|.	K|K	152;163|57	ENSP00000354597:E152K;ENSP00000357635:E163K|.	ENSP00000354597:E152K|.	E|R	-|-	1|2	0|0	DENND4B|DENND4B	152182094|152182094	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.029000|3.029000	0.49712|0.49712	2.496000|2.496000	0.84212|0.84212	0.563000|0.563000	0.77884|0.77884	GAG|AGA		0.662	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		10	58	0	0	0	1	0	10	58				
CAST	831	broad.mit.edu	37	5	96101025	96101025	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:96101025T>A	ENST00000341926.3	+	24	1946	c.1784T>A	c.(1783-1785)gTa>gAa	p.V595E	ERAP1_ENST00000296754.3_Intron|CAST_ENST00000511049.1_Missense_Mutation_p.V580E|CAST_ENST00000504465.1_Missense_Mutation_p.V523E|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000515663.1_Missense_Mutation_p.V318E|CAST_ENST00000508579.1_Missense_Mutation_p.V310E|CAST_ENST00000511782.1_Missense_Mutation_p.V581E|CAST_ENST00000508608.1_Missense_Mutation_p.V641E|CAST_ENST00000508830.1_Missense_Mutation_p.V678E|CAST_ENST00000509903.1_Missense_Mutation_p.V560E|CAST_ENST00000359176.4_Missense_Mutation_p.V659E|CAST_ENST00000325674.7_Missense_Mutation_p.V643E|CAST_ENST00000395812.2_Missense_Mutation_p.V637E|CAST_ENST00000395813.1_Missense_Mutation_p.V678E|CAST_ENST00000309190.5_Missense_Mutation_p.V573E|CAST_ENST00000510756.1_Missense_Mutation_p.V656E|CAST_ENST00000338252.3_Missense_Mutation_p.V582E			P20810	ICAL_HUMAN	calpastatin	595					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GAAGATAAAGTAAAGGTaaaa	0.348																																						ENST00000395813.1																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22						c.(2032-2034)gTa>gAa		calpastatin							52.0	52.0	52.0					5																	96101025		2203	4300	6503	SO:0001583	missense	831						calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	g.chr5:96101025T>A	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.1784T>A	5.37:g.96101025T>A	ENSP00000339914:p.Val595Glu		Somatic				CAST_ENST00000504465.1_Missense_Mutation_p.V523E|CAST_ENST00000508830.1_Missense_Mutation_p.V678E|CAST_ENST00000511049.1_Missense_Mutation_p.V580E|CAST_ENST00000395812.2_Missense_Mutation_p.V637E|CAST_ENST00000509903.1_Missense_Mutation_p.V560E|CAST_ENST00000508608.1_Missense_Mutation_p.V641E|CAST_ENST00000338252.3_Missense_Mutation_p.V582E|CAST_ENST00000511782.1_Missense_Mutation_p.V581E|CAST_ENST00000341926.3_Missense_Mutation_p.V595E|CAST_ENST00000508579.1_Missense_Mutation_p.V310E|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000515663.1_Missense_Mutation_p.V318E|CAST_ENST00000510756.1_Missense_Mutation_p.V656E|CAST_ENST00000359176.4_Missense_Mutation_p.V659E|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000309190.5_Missense_Mutation_p.V573E|CAST_ENST00000325674.7_Missense_Mutation_p.V643E	p.V678E			WXS	Illumina GAIIx	Phase_I	P20810	ICAL_HUMAN		all cancers(79;6.85e-15)	26	2219	+		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)	595					B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	37	c.2033T>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	22.0|22.0|22.0	4.234820|4.234820|4.234820	0.79800|0.79800|0.79800	.|.|.	.|.|.	ENSG00000153113|ENSG00000153113|ENSG00000153113	ENST00000510500|ENST00000338252;ENST00000508830;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508579;ENST00000515663|ENST00000437034	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	.|0.23950|.	.|1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88|.	5.8|5.8|5.8	5.8|5.8|5.8	0.92144|0.92144|0.92144	.|.|.	.|0.316482|.	.|0.31472|.	.|N|.	.|0.007594|.	T|T|.	0.80686|0.80686|.	0.4670|0.4670|.	M|M|M	0.89414|0.89414|0.89414	3.03|3.03|3.03	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	.|0.89917|.	.|1.0;0.999;0.999;0.999;0.999;0.999;0.999;0.999;1.0;0.999;0.999;0.999;0.999;0.998;1.0;0.999|.	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	.|0.91635|.	.|0.999;0.996;0.967;0.984;0.967;0.992;0.989;0.999;0.998;0.989;0.998;0.989;0.999;0.994;0.981;0.999|.	D|D|.	0.84109|0.84109|.	0.0400|0.0400|.	5|10|.	.|0.40728|.	.|T|.	.|0.16|.	-10.4551|-10.4551|-10.4551	15.1375|15.1375|15.1375	0.72579|0.72579|0.72579	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|523;641;318;346;317;580;560;573;554;595;643;637;659;656;678;582|.	.|E9PDE4;B7Z468;E7EQA0;Q86YM9;E7EPY6;E7EVY3;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2|.	.|.;.;.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.|.	R|E|K	351|582;678;678;659;643;637;656;641;595;580;573;595;523;560;581;310;318|347	.|ENSP00000343421:V582E;ENSP00000425721:V678E;ENSP00000379158:V678E;ENSP00000352098:V659E;ENSP00000320319:V643E;ENSP00000379157:V637E;ENSP00000422176:V656E;ENSP00000422677:V641E;ENSP00000339914:V595E;ENSP00000421130:V580E;ENSP00000312523:V573E;ENSP00000422325:V595E;ENSP00000425670:V523E;ENSP00000426946:V560E;ENSP00000423638:V581E;ENSP00000425787:V310E;ENSP00000422929:V318E|.	.|ENSP00000312523:V573E|.	S|V|X	+|+|+	3|2|1	2|0|0	CAST|CAST|CAST	96126781|96126781|96126781	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.968000|0.968000|0.968000	0.65278|0.65278|0.65278	4.956000|4.956000|4.956000	0.63645|0.63645|0.63645	2.209000|2.209000|2.209000	0.71365|0.71365|0.71365	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	AGT|GTA|TAA		0.348	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062		7	95	0	0	0	1	0	7	95				
RASEF	158158	broad.mit.edu	37	9	85637266	85637266	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:85637266A>T	ENST00000376447.3	-	3	914	c.654T>A	c.(652-654)caT>caA	p.H218Q		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	218					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCCGTGTCTTATGTTCTGCAG	0.493																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(652-654)caT>caA		RAS and EF-hand domain containing							275.0	234.0	248.0					9																	85637266		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85637266A>T	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.654T>A	9.37:g.85637266A>T	ENSP00000365630:p.His218Gln		Somatic					p.H218Q	NM_152573.2	NP_689786.2	WXS	Illumina GAIIx	Phase_I	Q8IZ41	RASEF_HUMAN			3	914	-			218					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.654T>A	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.805273	0.31961	.	.	ENSG00000165105	ENST00000376447	T	0.58506	0.33	5.88	1.48	0.22813	.	0.314947	0.36167	N	0.002746	T	0.29256	0.0728	N	0.08118	0	0.80722	D	1	B	0.14438	0.01	B	0.06405	0.002	T	0.04930	-1.0917	10	0.49607	T	0.09	.	2.511	0.04657	0.4291:0.115:0.3396:0.1163	.	218	Q8IZ41	RASEF_HUMAN	Q	218	ENSP00000365630:H218Q	ENSP00000365630:H218Q	H	-	3	2	RASEF	84827086	0.998000	0.40836	0.996000	0.52242	0.951000	0.60555	0.428000	0.21395	0.246000	0.21394	0.533000	0.62120	CAT		0.493	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		5	312	0	0	0	1	0	5	312				
DNM1P47	100216544	broad.mit.edu	37	15	102305092	102305092	+	RNA	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:102305092A>G	ENST00000561463.1	+	0	13138									DNM1 pseudogene 47																		CATGAACACCATCAGCACAGC	0.632																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102305092A>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102305092A>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	13138	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.632	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	22	0	0	0	1	0	4	22				
HIVEP2	3097	broad.mit.edu	37	6	143081369	143081369	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:143081369G>C	ENST00000367604.1	-	8	6695	c.6056C>G	c.(6055-6057)cCt>cGt	p.P2019R	HIVEP2_ENST00000367603.2_Missense_Mutation_p.P2019R|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2019R			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2019					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P2019R(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CATACAACTAGGTATGTCCAA	0.483																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			1	Substitution - Missense(1)	p.P2019R(1)	kidney(1)	NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(6055-6057)cCt>cGt		human immunodeficiency virus type I enhancer binding protein 2							277.0	255.0	262.0					6																	143081369		1973	4167	6140	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143081369G>C	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6056C>G	6.37:g.143081369G>C	ENSP00000356576:p.Pro2019Arg		Somatic				HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2019R|HIVEP2_ENST00000367604.1_Missense_Mutation_p.P2019R	p.P2019R	NM_006734.3	NP_006725.3	WXS	Illumina GAIIx	Phase_I	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	6798	-			2019					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.6056C>G	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247245	0.80024	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.03496	3.91;3.91;3.91	6.07	6.07	0.98685	.	0.046565	0.85682	D	0.000000	T	0.07548	0.0190	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.39981	-0.9587	10	0.87932	D	0	-18.3497	20.6525	0.99598	0.0:0.0:1.0:0.0	.	2019	P31629	ZEP2_HUMAN	R	2019	ENSP00000356576:P2019R;ENSP00000356575:P2019R;ENSP00000012134:P2019R	ENSP00000012134:P2019R	P	-	2	0	HIVEP2	143123062	1.000000	0.71417	0.778000	0.31720	0.984000	0.73092	7.282000	0.78630	2.890000	0.99128	0.585000	0.79938	CCT		0.483	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			349	247	0	0	0	1	0	349	247				
ADAMTS18	170692	broad.mit.edu	37	16	77327081	77327081	+	Silent	SNP	G	G	A	rs373173918		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:77327081G>A	ENST00000282849.5	-	20	3499	c.3081C>T	c.(3079-3081)ccC>ccT	p.P1027P	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1027	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACTGGCTCTCGGGGAGGGTTT	0.567																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(3079-3081)ccC>ccT		ADAM metallopeptidase with thrombospondin type 1 motif, 18		C		0,4396		0,0,2198	85.0	82.0	83.0		3081	-12.1	0.0	16		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS18	NM_199355.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		1027/1222	77327081	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77327081G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3081C>T	16.37:g.77327081G>A			Somatic					p.P1027P	NM_199355.2	NP_955387.1	WXS	Illumina GAIIx	Phase_I	Q8TE60	ATS18_HUMAN			20	3499	-			1027			TSP type-1 3.		Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	c.3081C>T	CCDS10926.1																																																																																				0.567	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			22	232	0	0	0	1	0	22	232				
WDR19	57728	broad.mit.edu	37	4	39196168	39196168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:39196168C>T	ENST00000399820.3	+	5	449	c.295C>T	c.(295-297)Caa>Taa	p.Q99*	WDR19_ENST00000506503.1_Nonsense_Mutation_p.Q99*|WDR19_ENST00000288634.7_Intron	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	99					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TTACAGGGATCAAATGTCTTT	0.313																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(295-297)Caa>Taa		WD repeat domain 19							107.0	101.0	103.0					4																	39196168		1827	4072	5899	SO:0001587	stop_gained	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39196168C>T	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.295C>T	4.37:g.39196168C>T	ENSP00000382717:p.Gln99*		Somatic				WDR19_ENST00000288634.7_Intron|WDR19_ENST00000506503.1_Nonsense_Mutation_p.Q99*	p.Q99*	NM_025132.3	NP_079408.3	WXS	Illumina GAIIx	Phase_I	Q8NEZ3	WDR19_HUMAN			5	449	+			99					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Nonsense_Mutation	SNP	ENST00000399820.3	37	c.295C>T	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888714	0.72524	.	.	ENSG00000157796	ENST00000399820;ENST00000509560;ENST00000506503;ENST00000399836	.	.	.	5.58	4.72	0.59763	.	0.106352	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-9.5073	10.5745	0.45219	0.0:0.6791:0.2518:0.0691	.	.	.	.	X	99;40;99;98	.	ENSP00000382717:Q99X	Q	+	1	0	WDR19	38872563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.829000	0.55760	1.300000	0.44818	0.655000	0.94253	CAA		0.313	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			3	20	0	0	0	1	0	3	20				
HKR1	284459	broad.mit.edu	37	19	37854575	37854575	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:37854575G>A	ENST00000324411.4	+	6	2147	c.1878G>A	c.(1876-1878)caG>caA	p.Q626Q	HKR1_ENST00000589392.1_Silent_p.Q608Q|HKR1_ENST00000544914.1_Silent_p.Q353Q|HKR1_ENST00000392153.3_Silent_p.Q607Q|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000591471.1_Silent_p.Q353Q|HKR1_ENST00000541583.2_Silent_p.Q565Q	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	626					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTAGACACCAGAGGACACATT	0.517																																						ENST00000591471.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1057-1059)caG>caA		HKR1, GLI-Kruppel zinc finger family member							73.0	74.0	74.0					19																	37854575		2203	4300	6503	SO:0001819	synonymous_variant	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37854575G>A	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1878G>A	19.37:g.37854575G>A			Somatic				HKR1_ENST00000589392.1_Silent_p.Q608Q|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000324411.4_Silent_p.Q626Q|HKR1_ENST00000544914.1_Silent_p.Q353Q|HKR1_ENST00000541583.2_Silent_p.Q565Q|HKR1_ENST00000392153.3_Silent_p.Q607Q	p.Q353Q			WXS	Illumina GAIIx	Phase_I	P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		9	2700	+			626					A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Silent	SNP	ENST00000324411.4	37	c.1059G>A	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	G	6.270	0.417868	0.11870	.	.	ENSG00000181666	ENST00000542144	.	.	.	2.96	0.68	0.17980	.	.	.	.	.	T	0.52058	0.1711	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.44065	-0.9352	5	0.40728	T	0.16	.	3.5589	0.07874	0.2265:0.0:0.5741:0.1993	.	.	.	.	K	661	.	ENSP00000440633:R661K	R	+	2	0	HKR1	42546415	0.000000	0.05858	0.996000	0.52242	0.989000	0.77384	-0.661000	0.05311	0.122000	0.18314	-0.145000	0.13849	AGA		0.517	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		12	241	0	0	0	1	0	12	241				
CHKB	1120	broad.mit.edu	37	22	51018846	51018846	+	Splice_Site	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:51018846C>T	ENST00000406938.2	-	6	895		c.e6-1		CPT1B_ENST00000405237.3_5'Flank|CHKB-CPT1B_ENST00000452668.1_5'Flank|CHKB_ENST00000463053.1_Splice_Site|CHKB-CPT1B_ENST00000453634.1_5'Flank|CHKB-AS1_ENST00000380711.3_RNA|CPT1B_ENST00000434492.2_5'Flank|CPT1B_ENST00000457250.1_5'Flank|CPT1B_ENST00000440709.1_5'Flank|CPT1B_ENST00000360719.2_5'Flank|CPT1B_ENST00000312108.7_5'Flank|CPT1B_ENST00000395650.2_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta						CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	TAGTAACTTCCTACAGGGGTA	0.547																																						ENST00000406938.2																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15						c.e6-1		choline kinase beta	Choline(DB00122)						158.0	162.0	161.0					22																	51018846		2203	4300	6503	SO:0001630	splice_region_variant	1120				phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr22:51018846C>T	AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"""choline kinase-like"""	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.678-1G>A	22.37:g.51018846C>T			Somatic				CHKB_ENST00000463053.1_Splice_Site		NM_005198.4	NP_005189.2	WXS	Illumina GAIIx	Phase_I	Q9Y259	CHKB_HUMAN		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	6	895	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)						A0PJM6|Q13388	Splice_Site	SNP	ENST00000406938.2	37		CCDS14099.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192904	0.38707	.	.	ENSG00000100288	ENST00000406938	.	.	.	4.95	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.955	0.35812	0.0:0.8997:0.0:0.1003	.	.	.	.	.	-1	.	.	.	-	.	.	CHKB	49365712	1.000000	0.71417	0.997000	0.53966	0.505000	0.33919	6.371000	0.73119	1.305000	0.44909	0.561000	0.74099	.		0.547	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317267.3	NM_005198	Intron	13	101	0	0	0	1	0	13	101				
CSHL1	1444	broad.mit.edu	37	17	61987236	61987236	+	Missense_Mutation	SNP	C	C	G	rs568422908		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:61987236C>G	ENST00000309894.5	-	5	503	c.504G>C	c.(502-504)caG>caC	p.Q168H	CSHL1_ENST00000561003.1_Missense_Mutation_p.D170H|CSHL1_ENST00000450719.3_Missense_Mutation_p.D159H|CSHL1_ENST00000438387.2_Missense_Mutation_p.Q85H|CSHL1_ENST00000346606.6_Missense_Mutation_p.Q74H|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Missense_Mutation_p.Q106H	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	168						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						GCTTGAGGGTCTGCCCAGTCA	0.547																																						ENST00000450719.3																			0				endometrium(3)|lung(6)	9						c.(475-477)Gac>Cac		chorionic somatomammotropin hormone-like 1							187.0	165.0	172.0					17																	61987236		2203	4300	6503	SO:0001583	missense	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61987236C>G	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.504G>C	17.37:g.61987236C>G	ENSP00000309524:p.Gln168His		Somatic				CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Missense_Mutation_p.Q106H|CSHL1_ENST00000438387.2_Missense_Mutation_p.Q85H|CSHL1_ENST00000309894.5_Missense_Mutation_p.Q168H|CSHL1_ENST00000346606.6_Missense_Mutation_p.Q74H|CSHL1_ENST00000561003.1_Missense_Mutation_p.D170H	p.D159H			WXS	Illumina GAIIx	Phase_I	Q14406	CSHL_HUMAN			3	712	-			0					D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	ENST00000309894.5	37	c.475G>C	CCDS11652.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	2.613|2.613	-0.290324|-0.290324	0.05568|0.05568	.|.	.|.	ENSG00000204414|ENSG00000204414	ENST00000450719|ENST00000309894;ENST00000438387;ENST00000259003;ENST00000346606	.|D;D;D	.|0.89050	.|-2.46;-2.46;-2.46	3.6|3.6	2.61|2.61	0.31194|0.31194	.|Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.|2.243020	.|0.02435	.|N	.|0.084018	D|D	0.89577|0.89577	0.6755|0.6755	M|M	0.70595|0.70595	2.14|2.14	0.22500|0.22500	N|N	0.999045|0.999045	.|B;B;B;B	.|0.14805	.|0.005;0.011;0.007;0.005	.|B;B;B;B	.|0.14023	.|0.005;0.01;0.007;0.005	T|T	0.73372|0.73372	-0.4003|-0.4003	5|10	.|0.66056	.|D	.|0.02	.|.	11.0373|11.0373	0.47808|0.47808	0.0:0.6353:0.3647:0.0|0.0:0.6353:0.3647:0.0	.|.	.|74;85;168;145	.|Q14406-4;Q14406-3;Q14406;Q14406-2	.|.;.;CSHL_HUMAN;.	H|H	248|168;85;163;74	.|ENSP00000309524:Q168H;ENSP00000402632:Q85H;ENSP00000316360:Q74H	.|ENSP00000259003:Q163H	D|Q	-|-	1|3	0|2	GH1|GH1	59340968|59340968	0.987000|0.987000	0.35691|0.35691	0.874000|0.874000	0.34290|0.34290	0.004000|0.004000	0.04260|0.04260	1.531000|1.531000	0.36018|0.36018	0.641000|0.641000	0.30601|0.30601	-0.680000|-0.680000	0.03767|0.03767	GAC|CAG		0.547	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		15	464	0	0	0	1	0	15	464				
L1TD1	54596	broad.mit.edu	37	1	62676204	62676204	+	Silent	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:62676204T>A	ENST00000498273.1	+	4	2053	c.1758T>A	c.(1756-1758)ctT>ctA	p.L586L	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	586										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TCACCAAACTTAAGAAAACAG	0.368																																						ENST00000498273.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(1756-1758)ctT>ctA		LINE-1 type transposase domain containing 1							48.0	49.0	49.0					1																	62676204		2203	4300	6503	SO:0001819	synonymous_variant	54596							g.chr1:62676204T>A	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1758T>A	1.37:g.62676204T>A			Somatic					p.L586L	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	WXS	Illumina GAIIx	Phase_I	Q5T7N2	LITD1_HUMAN			4	2053	+			586					Q8NDA1|Q9NUV8|Q9NV78	Silent	SNP	ENST00000498273.1	37	c.1758T>A	CCDS619.1																																																																																				0.368	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		6	125	0	0	0	1	0	6	125				
CPSF4	10898	broad.mit.edu	37	7	99047957	99047957	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:99047957G>T	ENST00000292476.5	+	4	376	c.366G>T	c.(364-366)aaG>aaT	p.K122N	CPSF4_ENST00000441580.1_Missense_Mutation_p.K69N|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000466753.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000451876.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000436336.2_Missense_Mutation_p.K122N			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	122					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K122N(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCAAGATCAAGGACTGTCCTT	0.622																																						ENST00000436336.2																			1	Substitution - Missense(1)	p.K122N(1)	kidney(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14						c.(364-366)aaG>aaT		cleavage and polyadenylation specific factor 4, 30kDa							82.0	67.0	72.0					7																	99047957		2203	4300	6503	SO:0001583	missense	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99047957G>T		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.366G>T	7.37:g.99047957G>T	ENSP00000292476:p.Lys122Asn		Somatic				ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000471455.1_3'UTR|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000441580.1_Missense_Mutation_p.K69N|CPSF4_ENST00000451876.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000292476.5_Missense_Mutation_p.K122N	p.K122N	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	WXS	Illumina GAIIx	Phase_I	O95639	CPSF4_HUMAN			4	527	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		122					D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	ENST00000292476.5	37	c.366G>T	CCDS5664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.136651|4.136651	0.77662|0.77662	.|.	.|.	ENSG00000160917|ENSG00000160917	ENST00000440514|ENST00000436336;ENST00000292476;ENST00000441580;ENST00000412686;ENST00000452047	.|T;T;T;T;T	.|0.44083	.|0.93;0.93;0.93;0.93;1.38	5.93|5.93	2.74|2.74	0.32292|0.32292	.|Zinc finger, CCCH-type (2);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.59280	.|0.2182	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.69078	.|0.993;0.997;0.779;0.995	.|P;D;B;D	.|0.69654	.|0.722;0.965;0.313;0.965	.|T	.|0.57376	.|-0.7822	.|10	.|0.33940	.|T	.|0.23	-19.65|-19.65	7.1249|7.1249	0.25467|0.25467	0.4371:0.0:0.5629:0.0|0.4371:0.0:0.5629:0.0	.|.	.|69;122;122;122	.|B7Z7B0;O95639-3;O95639;O95639-2	.|.;.;CPSF4_HUMAN;.	X|N	4|122;122;69;69;89	.|ENSP00000395311:K122N;ENSP00000292476:K122N;ENSP00000402224:K69N;ENSP00000401150:K69N;ENSP00000392584:K89N	.|ENSP00000292476:K122N	G|K	+|+	1|3	0|2	CPSF4|CPSF4	98885893|98885893	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.125000|3.125000	0.50469|0.50469	0.851000|0.851000	0.35264|0.35264	-0.136000|-0.136000	0.14681|0.14681	GGA|AAG		0.622	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			18	58	1	0	4.63292e-17	1	4.88678e-17	18	58				
PHF3	23469	broad.mit.edu	37	6	64389899	64389899	+	Splice_Site	SNP	A	A	T	rs200623505		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:64389899A>T	ENST00000262043.3	+	3	584		c.e3-1		PHF3_ENST00000393387.1_Splice_Site|PHF3_ENST00000509330.1_Splice_Site			Q92576	PHF3_HUMAN	PHD finger protein 3						multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTTTTTTTCTAGTTGTTGGTC	0.308																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.e3-1		PHD finger protein 3							84.0	85.0	84.0					6																	64389899		2203	4300	6503	SO:0001630	splice_region_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64389899A>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.245-1A>T	6.37:g.64389899A>T			Somatic				PHF3_ENST00000393387.1_Splice_Site|PHF3_ENST00000509330.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	584	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)							A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Splice_Site	SNP	ENST00000262043.3	37		CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.369739	0.61624	.	.	ENSG00000118482	ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	.	.	.	5.87	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0911	0.48117	0.9279:0.0:0.0721:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHF3	64447858	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.923000	0.63412	1.053000	0.40415	0.482000	0.46254	.		0.308	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		Intron	4	89	0	0	0	1	0	4	89				
KMT2C	58508	broad.mit.edu	37	7	151859400	151859400	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:151859400G>A	ENST00000262189.6	-	43	11480	c.11262C>T	c.(11260-11262)tcC>tcT	p.S3754S	KMT2C_ENST00000355193.2_Silent_p.S3754S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3754					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCTGTGCTGAGGAGACAGGAC	0.493																																						ENST00000355193.2																			0											c.(11260-11262)tcC>tcT		lysine (K)-specific methyltransferase 2C							88.0	89.0	89.0					7																	151859400		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151859400G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11262C>T	7.37:g.151859400G>A			Somatic				KMT2C_ENST00000262189.6_Silent_p.S3754S	p.S3754S			WXS	Illumina GAIIx	Phase_I					43	11480	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.11262C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	9.788	1.177090	0.21787	.	.	ENSG00000055609	ENST00000360104	.	.	.	4.64	2.81	0.32909	.	.	.	.	.	T	0.47691	0.1459	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38972	-0.9636	4	.	.	.	.	4.522	0.11964	0.4329:0.0:0.5671:0.0	.	.	.	.	F	1260	.	.	L	-	1	0	MLL3	151490333	0.355000	0.24921	0.493000	0.27502	0.985000	0.73830	0.520000	0.22878	1.262000	0.44165	0.650000	0.86243	CTC		0.493	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	207	0	0	0	1	0	5	207				
CD48	962	broad.mit.edu	37	1	160654785	160654785	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:160654785C>G	ENST00000368046.3	-	2	364	c.277G>C	c.(277-279)Gca>Cca	p.A93P	RP11-404F10.2_ENST00000588034.1_RNA|CD48_ENST00000368045.3_Missense_Mutation_p.A93P|RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000598917.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	93	Ig-like C2-type 1.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGTACAGTGCGCCACTCTGA	0.423																																						ENST00000368045.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(277-279)Gca>Cca		CD48 molecule							167.0	164.0	165.0					1																	160654785		2203	4300	6503	SO:0001583	missense	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160654785C>G	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.277G>C	1.37:g.160654785C>G	ENSP00000357025:p.Ala93Pro		Somatic				CD48_ENST00000368046.3_Missense_Mutation_p.A93P	p.A93P			WXS	Illumina GAIIx	Phase_I	P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	316	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		93			Ig-like C2-type 1.		Q5U055|Q8MGR0	Missense_Mutation	SNP	ENST00000368046.3	37	c.277G>C	CCDS1208.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464867	0.43839	.	.	ENSG00000117091	ENST00000368046;ENST00000368045	T;T	0.65916	-0.18;-0.18	3.59	-0.856	0.10697	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.110220	0.06745	N	0.778936	T	0.60958	0.2309	M	0.61703	1.905	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.997;0.999;0.999	T	0.49204	-0.8964	10	0.66056	D	0.02	-3.3301	6.5366	0.22357	0.0:0.443:0.0:0.557	.	93;93;93	Q8MGR0;Q6IAZ2;P09326	.;.;CD48_HUMAN	P	93	ENSP00000357025:A93P;ENSP00000357024:A93P	ENSP00000357024:A93P	A	-	1	0	CD48	158921409	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.603000	0.05674	-0.150000	0.11195	0.462000	0.41574	GCA		0.423	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		8	719	0	0	0	1	0	8	719				
AHNAK2	113146	broad.mit.edu	37	14	105421825	105421825	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:105421825C>T	ENST00000333244.5	-	5	580	c.461G>A	c.(460-462)aGa>aAa	p.R154K	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	154	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCACCTTCTCTCAAGTTAAA	0.582																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(460-462)aGa>aAa		AHNAK nucleoprotein 2							75.0	82.0	79.0					14																	105421825		1995	4166	6161	SO:0001583	missense	113146					nucleus		g.chr14:105421825C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.461G>A	14.37:g.105421825C>T	ENSP00000353114:p.Arg154Lys		Somatic					p.R154K	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		5	580	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	154			PDZ.		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.461G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	13.55	2.271988	0.40194	.	.	ENSG00000185567	ENST00000333244	T	0.38560	1.13	4.72	1.82	0.25136	PDZ/DHR/GLGF (3);	0.165644	0.41823	U	0.000814	T	0.18130	0.0435	N	0.20401	0.57	0.20196	N	0.999924	P	0.40970	0.734	B	0.35470	0.203	T	0.33574	-0.9863	10	0.02654	T	1	.	7.208	0.25917	0.0:0.6244:0.0:0.3756	.	154	Q8IVF2	AHNK2_HUMAN	K	154	ENSP00000353114:R154K	ENSP00000353114:R154K	R	-	2	0	AHNAK2	104492870	0.275000	0.24201	0.954000	0.39281	0.579000	0.36224	0.166000	0.16583	0.192000	0.20272	-0.145000	0.13849	AGA		0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	32	0	0	0	1	0	9	32				
KBTBD7	84078	broad.mit.edu	37	13	41767977	41767977	+	Silent	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:41767977G>T	ENST00000379483.3	-	1	725	c.417C>A	c.(415-417)gcC>gcA	p.A139A		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	139										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCTGCACATTGGCCTCACTGA	0.597																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(415-417)gcC>gcA		kelch repeat and BTB (POZ) domain containing 7							119.0	96.0	104.0					13																	41767977		2203	4300	6503	SO:0001819	synonymous_variant	84078						protein binding	g.chr13:41767977G>T	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.417C>A	13.37:g.41767977G>T			Somatic					p.A139A	NM_032138.4	NP_115514.2	WXS	Illumina GAIIx	Phase_I	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	725	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	139					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Silent	SNP	ENST00000379483.3	37	c.417C>A	CCDS9377.1																																																																																				0.597	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		8	77	1	0	2.32078e-09	1	2.41487e-09	8	77				
NPAS3	64067	broad.mit.edu	37	14	33836390	33836390	+	Splice_Site	SNP	A	A	T	rs202236525		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:33836390A>T	ENST00000356141.4	+	4	385		c.e4-1		NPAS3_ENST00000548645.1_Splice_Site|NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000341321.4_Splice_Site|NPAS3_ENST00000547068.1_Intron|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000346562.2_Intron			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3						locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TTTTCTTTTAAGTTATAGGTG	0.368																																						ENST00000548645.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.e3-1		neuronal PAS domain protein 3							40.0	40.0	40.0					14																	33836390		2203	4300	6503	SO:0001630	splice_region_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:33836390A>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.386-1A>T	14.37:g.33836390A>T			Somatic				NPAS3_ENST00000341321.4_Splice_Site|NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000547068.1_Intron|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000356141.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	3	340	+	Breast(36;0.0102)|Hepatocellular(127;0.133)							Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Splice_Site	SNP	ENST00000356141.4	37		CCDS53891.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008521	0.75046	.	.	ENSG00000151322	ENST00000551634;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798;ENST00000551008;ENST00000546849	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6625	0.77199	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPAS3	32906141	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.499000	0.81566	2.107000	0.64212	0.533000	0.62120	.		0.368	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1		Intron	3	29	0	0	0	1	0	3	29				
ACOX2	8309	broad.mit.edu	37	3	58520149	58520149	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:58520149G>A	ENST00000302819.5	-	3	552	c.261C>T	c.(259-261)atC>atT	p.I87I	ACOX2_ENST00000459701.2_Silent_p.I87I	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	87					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CTATCAACCGGATGTGGAATG	0.517																																						ENST00000302819.5																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(259-261)atC>atT		acyl-CoA oxidase 2, branched chain							109.0	104.0	106.0					3																	58520149		2203	4300	6503	SO:0001819	synonymous_variant	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58520149G>A	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.261C>T	3.37:g.58520149G>A			Somatic				ACOX2_ENST00000459701.2_Silent_p.I87I	p.I87I	NM_003500.3	NP_003491.1	WXS	Illumina GAIIx	Phase_I	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	3	552	-			87					A6NF16|B2R8U5	Silent	SNP	ENST00000302819.5	37	c.261C>T	CCDS33775.1																																																																																				0.517	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			14	186	0	0	0	1	0	14	186				
CPNE5	57699	broad.mit.edu	37	6	36790836	36790836	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:36790836G>A	ENST00000244751.2	-	2	758	c.134C>T	c.(133-135)cCa>cTa	p.P45L		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	45	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGACTTACGTGGGTCGGACTT	0.527																																						ENST00000244751.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(133-135)cCa>cTa		copine V							148.0	133.0	138.0					6																	36790836		2203	4300	6503	SO:0001583	missense	57699							g.chr6:36790836G>A	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.134C>T	6.37:g.36790836G>A	ENSP00000244751:p.Pro45Leu		Somatic					p.P45L	NM_020939.1	NP_065990.1	WXS	Illumina GAIIx	Phase_I	Q9HCH3	CPNE5_HUMAN			2	758	-			45			C2 1.		Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	c.134C>T	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306867	0.81247	.	.	ENSG00000124772	ENST00000244751	T	0.76709	-1.04	5.25	5.25	0.73442	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91633	0.7356	H	0.98507	4.25	0.80722	D	1	D	0.67145	0.996	D	0.74023	0.982	D	0.94312	0.7546	10	0.87932	D	0	.	14.3453	0.66658	0.0:0.0:1.0:0.0	.	45	Q9HCH3	CPNE5_HUMAN	L	45	ENSP00000244751:P45L	ENSP00000244751:P45L	P	-	2	0	CPNE5	36898814	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.345000	0.65987	2.451000	0.82905	0.561000	0.74099	CCA		0.527	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		7	334	0	0	0	1	0	7	334				
KIF1B	23095	broad.mit.edu	37	1	10356638	10356638	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:10356638A>T	ENST00000377086.1	+	20	1979		c.e20-1		KIF1B_ENST00000263934.6_Splice_Site|RNU6-37P_ENST00000362692.1_RNA|KIF1B_ENST00000377093.4_Splice_Site|KIF1B_ENST00000377083.1_Splice_Site|KIF1B_ENST00000377081.1_Splice_Site			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGTTCCTCTTAGTTATCGTGA	0.433																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.e20-1		kinesin family member 1B							87.0	81.0	83.0					1																	10356638		2203	4300	6503	SO:0001630	splice_region_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10356638A>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.1778-1A>T	1.37:g.10356638A>T			Somatic				KIF1B_ENST00000377083.1_Splice_Site|KIF1B_ENST00000263934.6_Splice_Site|KIF1B_ENST00000377093.4_Splice_Site|KIF1B_ENST00000377081.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	20	1979	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)						A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Splice_Site	SNP	ENST00000377086.1	37			.	.	.	.	.	.	.	.	.	.	A	25.2	4.616718	0.87359	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1699	0.81801	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF1B	10279225	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.273000	0.72581	2.217000	0.71921	0.533000	0.62120	.		0.433	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		Intron	4	104	0	0	0	1	0	4	104				
CXorf65	158830	broad.mit.edu	37	X	70323864	70323864	+	Silent	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:70323864G>C	ENST00000374251.5	-	6	573	c.525C>G	c.(523-525)ctC>ctG	p.L175L		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	175										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						TGGTTTTATTGAGTTGGCGAC	0.408																																						ENST00000374251.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						c.(523-525)ctC>ctG		chromosome X open reading frame 65							125.0	99.0	108.0					X																	70323864		2202	4300	6502	SO:0001819	synonymous_variant	158830							g.chrX:70323864G>C	BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.525C>G	X.37:g.70323864G>C			Somatic				CXorf65_ENST00000485951.1_5'UTR	p.L175L			WXS	Illumina GAIIx	Phase_I	A6NEN9	CX065_HUMAN			6	572	-			175						Silent	SNP	ENST00000374251.5	37	c.525C>G	CCDS35324.1																																																																																				0.408	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057089.2	NM_001025265		5	77	0	0	0	1	0	5	77				
NCOA5	57727	broad.mit.edu	37	20	44693847	44693847	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:44693847C>A	ENST00000290231.6	-	6	814	c.650G>T	c.(649-651)gGg>gTg	p.G217V		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G217V(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CACCTTCCGCCCCACAGACTC	0.493																																						ENST00000290231.6																			1	Substitution - Missense(1)	p.G217V(1)	kidney(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(649-651)gGg>gTg		nuclear receptor coactivator 5							163.0	141.0	148.0					20																	44693847		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44693847C>A		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.650G>T	20.37:g.44693847C>A	ENSP00000290231:p.Gly217Val		Somatic					p.G217V	NM_020967.2	NP_066018.1	WXS	Illumina GAIIx	Phase_I	Q9HCD5	NCOA5_HUMAN			6	814	-		Myeloproliferative disorder(115;0.0122)	217					B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.650G>T	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787561	0.90367	.	.	ENSG00000124160	ENST00000290231	T	0.51574	0.7	5.38	5.38	0.77491	Anticodon-binding (2);	0.046304	0.85682	D	0.000000	T	0.65719	0.2718	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64428	-0.6410	10	0.52906	T	0.07	-14.4793	18.3063	0.90182	0.0:1.0:0.0:0.0	.	217	Q9HCD5	NCOA5_HUMAN	V	217	ENSP00000290231:G217V	ENSP00000290231:G217V	G	-	2	0	NCOA5	44127254	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.651000	0.83577	2.804000	0.96469	0.462000	0.41574	GGG		0.493	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		177	374	1	0	8.07858e-61	1	8.65963e-61	177	374				
LARP4	113251	broad.mit.edu	37	12	50869645	50869645	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:50869645T>A	ENST00000398473.2	+	16	2285	c.2173T>A	c.(2173-2175)Taa>Aaa	p.*725K	LARP4_ENST00000429001.3_Nonstop_Mutation_p.*731K|LARP4_ENST00000293618.8_Nonstop_Mutation_p.*654K|LARP4_ENST00000518444.1_Nonstop_Mutation_p.*724K|LARP4_ENST00000347328.5_Nonstop_Mutation_p.*654K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	0					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATCACCAAAGTAAAAAACAAC	0.448																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(2173-2175)Taa>Aaa		La ribonucleoprotein domain family, member 4							42.0	43.0	42.0					12																	50869645		1874	4108	5982	SO:0001578	stop_lost	113251						nucleotide binding|RNA binding	g.chr12:50869645T>A	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.2173T>A	12.37:g.50869645T>A	ENSP00000381490:p.*725Lysext*81		Somatic				LARP4_ENST00000518444.1_Nonstop_Mutation_p.*724K|LARP4_ENST00000347328.5_Nonstop_Mutation_p.*654K|LARP4_ENST00000429001.3_Nonstop_Mutation_p.*731K|LARP4_ENST00000293618.8_Nonstop_Mutation_p.*654K	p.*725K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	WXS	Illumina GAIIx	Phase_I	Q71RC2	LARP4_HUMAN			16	2285	+			0					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Nonstop_Mutation	SNP	ENST00000398473.2	37	c.2173T>A	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942821	0.53079	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.337	0.55073	0.0:0.0:0.141:0.859	.	.	.	.	K	654;731;725;724;606;654	.	.	X	+	1	0	LARP4	49155912	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	3.694000	0.54742	2.202000	0.70862	0.523000	0.50628	TAA		0.448	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		6	51	0	0	0	1	0	6	51				
PDE1B	5153	broad.mit.edu	37	12	54963068	54963068	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:54963068C>T	ENST00000243052.3	+	4	764	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	PDE1B_ENST00000550620.1_Missense_Mutation_p.R90W|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.R69W	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	110					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CCAGCAGGCCCGGGCCAAAGG	0.647																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(328-330)Cgg>Tgg		phosphodiesterase 1B, calmodulin-dependent							44.0	49.0	47.0					12																	54963068		2203	4300	6503	SO:0001583	missense	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54963068C>T	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.328C>T	12.37:g.54963068C>T	ENSP00000243052:p.Arg110Trp		Somatic				PDE1B_ENST00000550620.1_Missense_Mutation_p.R90W|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.R69W	p.R110W	NM_000924.3	NP_000915.1	WXS	Illumina GAIIx	Phase_I	Q01064	PDE1B_HUMAN			4	764	+			110					Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.328C>T	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806568	0.70682	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.69561	-0.41;-0.41;-0.41	5.21	4.31	0.51392	-cyclic nucleotide phosphodiesterase N-terminal (1);5&apos (1);3&apos (1);	0.176659	0.35040	N	0.003481	T	0.72645	0.3486	L	0.40543	1.245	0.48341	D	0.999636	D;D	0.76494	0.999;0.999	D;D	0.70716	0.949;0.97	T	0.74383	-0.3683	10	0.66056	D	0.02	.	11.1608	0.48514	0.3348:0.6652:0.0:0.0	.	90;110	Q01064-2;Q01064	.;PDE1B_HUMAN	W	110;69;90	ENSP00000243052:R110W;ENSP00000442559:R69W;ENSP00000448519:R90W	ENSP00000243052:R110W	R	+	1	2	PDE1B	53249335	0.579000	0.26725	0.999000	0.59377	0.989000	0.77384	0.662000	0.25038	1.320000	0.45209	-0.181000	0.13052	CGG		0.647	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			4	202	0	0	0	1	0	4	202				
IGKV1D-42	28892	broad.mit.edu	37	2	90229349	90229349	+	RNA	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:90229349T>C	ENST00000390278.2	+	0	189									immunoglobulin kappa variable 1D-42 (non-functional)																		TAATTTAGCCTGGTATCTGCA	0.493																																						ENST00000390278.2																			0																				82.0	86.0	85.0					2																	90229349		1894	4129	6023			28892							g.chr2:90229349T>C	X72816		2p11.2	2012-02-08	2008-09-09		ENSG00000211633	ENSG00000211633		"""Immunoglobulins / IGK locus"""	5757	other	immunoglobulin gene			"""immunoglobulin kappa variable 1D-42"""				Standard	NG_000833		Approved				OTTHUMG00000151573		2.37:g.90229349T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	189	+									RNA	SNP	ENST00000390278.2	37																																																																																						0.493	IGKV1D-42-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323148.1	NG_000833		4	181	0	0	0	1	0	4	181				
CAMTA1	23261	broad.mit.edu	37	1	7725011	7725011	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:7725011G>A	ENST00000303635.7	+	9	2611	c.2404G>A	c.(2404-2406)Gcg>Acg	p.A802T	CAMTA1_ENST00000439411.2_Missense_Mutation_p.A802T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	802					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGACAGCACGGCGCTCTCACA	0.652			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(2404-2406)Gcg>Acg		calmodulin binding transcription activator 1							113.0	133.0	126.0					1																	7725011		2203	4299	6502	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7725011G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2404G>A	1.37:g.7725011G>A	ENSP00000306522:p.Ala802Thr		Somatic				CAMTA1_ENST00000439411.2_Missense_Mutation_p.A802T	p.A802T	NM_015215.2	NP_056030.1	WXS	Illumina GAIIx	Phase_I	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2611	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	802					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.2404G>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	5.444	0.266984	0.10294	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.27402	1.68;1.67	5.23	5.23	0.72850	.	0.453240	0.23472	N	0.047807	T	0.16342	0.0393	N	0.08118	0	0.21020	N	0.999807	B	0.32245	0.361	B	0.22386	0.039	T	0.08868	-1.0701	10	0.16420	T	0.52	-15.167	18.7931	0.91982	0.0:0.0:1.0:0.0	.	802	Q9Y6Y1	CMTA1_HUMAN	T	802	ENSP00000306522:A802T;ENSP00000402561:A802T	ENSP00000306522:A802T	A	+	1	0	CAMTA1	7647598	0.998000	0.40836	0.139000	0.22197	0.052000	0.14988	4.384000	0.59607	2.453000	0.82957	0.549000	0.68633	GCG		0.652	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		4	167	0	0	0	1	0	4	167				
NBPF14	25832	broad.mit.edu	37	1	148012533	148012533	+	Missense_Mutation	SNP	T	T	G	rs144977899		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:148012533T>G	ENST00000369219.1	-	12	1442	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E481D(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCAACATGCTTTTCCTCCAAT	0.448																																						ENST00000369219.1																			2	Substitution - Missense(2)	p.E481D(1)|p.K476Q(1)	lung(2)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1426-1428)Aag>Cag		neuroblastoma breakpoint family, member 14		T	GLN/LYS	149,1589		11,127,731	3.0	3.0	3.0		1426		0.0	1	dbSNP_134	3	199,3727		1,197,1765	no	missense	NBPF14	NM_015383.1	53	12,324,2496	GG,GT,TT		5.0688,8.5731,6.1441	benign	476/922	148012533	348,5316	869	1963	2832	SO:0001583	missense	25832					cytoplasm		g.chr1:148012533T>G	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1426A>C	1.37:g.148012533T>G	ENSP00000358221:p.Lys476Gln		Somatic					p.K476Q			WXS	Illumina GAIIx	Phase_I	Q5TI25	NBPFE_HUMAN			12	1442	-	all_hematologic(923;0.032)		476			NBPF 5.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.1426A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	0.001|0.001	-3.636353|-3.636353	0.00007|0.00007	0.085731|0.085731	0.050688|0.050688	ENSG00000122497|ENSG00000122497	ENST00000310701;ENST00000392972;ENST00000426874|ENST00000369219;ENST00000434489	.|T	.|0.05199	.|3.48	.|.	.|.	.|.	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.00468|0.00468	0.0015|0.0015	N|N	0.00104|0.00104	-2.125|-2.125	0.09310|0.09310	N|N	1|1	.|B;B;P	.|0.43431	.|0.001;0.005;0.807	.|B;B;P	.|0.53518	.|0.01;0.023;0.728	T|T	0.31138|0.31138	-0.9954|-0.9954	3|7	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|143;590;476	.|E7EWM5;Q8IX74;Q5TI25	.|.;.;NBPFE_HUMAN	N|Q	481;486;486|476;141	.|ENSP00000358221:K476Q	.|ENSP00000358221:K476Q	K|K	-|-	3|1	2|0	NBPF14|NBPF14	146479157|146479157	0.953000|0.953000	0.32496|0.32496	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-1.318000|-1.318000	0.02705|0.02705	-1.050000|-1.050000	0.03230|0.03230	-1.115000|-1.115000	0.02055|0.02055	AAA|AAG		0.448	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		15	3374	0	0	0	1	0	15	3374				
ADCY3	109	broad.mit.edu	37	2	25044423	25044423	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:25044423G>A	ENST00000260600.5	-	19	3941	c.3090C>T	c.(3088-3090)atC>atT	p.I1030I	CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Silent_p.I617I	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1030					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)|cellular response to glucagon stimulus (GO:0071377)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ACTGGTTGTTGATGTTGGTGA	0.627																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(3088-3090)atC>atT		adenylate cyclase 3							169.0	153.0	158.0					2																	25044423		2203	4300	6503	SO:0001819	synonymous_variant	109				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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25044423G>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.3090C>T	2.37:g.25044423G>A			Somatic				CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Silent_p.I617I	p.I1030I	NM_004036.3	NP_004027.2	WXS	Illumina GAIIx	Phase_I	O60266	ADCY3_HUMAN			19	3941	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		1030					B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	c.3090C>T	CCDS1715.1																																																																																				0.627	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			4	207	0	0	0	1	0	4	207				
MED12L	116931	broad.mit.edu	37	3	151078337	151078337	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:151078337C>T	ENST00000474524.1	+	19	2834	c.2796C>T	c.(2794-2796)ctC>ctT	p.L932L	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.L792L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	932						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAGCCTACCTCTATGATCTCT	0.423																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(2794-2796)ctC>ctT		mediator complex subunit 12-like							238.0	223.0	228.0					3																	151078337		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151078337C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2796C>T	3.37:g.151078337C>T			Somatic				P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.L792L	p.L932L	NM_053002.4	NP_443728.3	WXS	Illumina GAIIx	Phase_I	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		19	2834	+			932					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.2796C>T	CCDS33876.1																																																																																				0.423	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		39	465	0	0	0	1	0	39	465				
ALG10B	144245	broad.mit.edu	37	12	38714410	38714410	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:38714410G>A	ENST00000308742.4	+	3	1133	c.817G>A	c.(817-819)Gga>Aga	p.G273R	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	273					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AGTTAATGGTGGAATTGTTAT	0.353																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(817-819)Gga>Aga		ALG10B, alpha-1,2-glucosyltransferase							171.0	173.0	173.0					12																	38714410		2203	4296	6499	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714410G>A	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.817G>A	12.37:g.38714410G>A	ENSP00000310120:p.Gly273Arg		Somatic				ALG10B_ENST00000551464.1_Intron	p.G273R	NM_001013620.3	NP_001013642.1	WXS	Illumina GAIIx	Phase_I	Q5I7T1	AG10B_HUMAN			3	1133	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	273					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.817G>A	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	g	19.75	3.886016	0.72410	.	.	ENSG00000175548	ENST00000308742	T	0.56776	0.44	3.23	3.23	0.37069	.	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82080	-0.0634	10	0.87932	D	0	.	12.7261	0.57173	0.0:0.0:1.0:0.0	.	273	Q5I7T1	AG10B_HUMAN	R	273	ENSP00000310120:G273R	ENSP00000310120:G273R	G	+	1	0	ALG10B	37000677	1.000000	0.71417	0.986000	0.45419	0.847000	0.48162	9.123000	0.94387	2.103000	0.63969	0.643000	0.83706	GGA		0.353	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		8	246	0	0	0	1	0	8	246				
HIST1H2AK	8330	broad.mit.edu	37	6	27805883	27805883	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:27805883T>G	ENST00000330180.2	-	1	234	c.235A>C	c.(235-237)Atc>Ctc	p.I79L	HIST1H2BN_ENST00000396980.3_5'Flank|HIST1H2BN_ENST00000606613.1_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	79						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.I79L(1)		breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						CGCGGGATGATGCGGGTCTTC	0.627																																						ENST00000330180.2																			1	Substitution - Missense(1)	p.I79L(1)	kidney(1)	breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						c.(235-237)Atc>Ctc		histone cluster 1, H2ak							108.0	110.0	109.0					6																	27805883		2203	4300	6503	SO:0001583	missense	8330				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27805883T>G	Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"""Histones / Replication-dependent"""	4726	protein-coding gene	gene with protein product		602788	"""H2A histone family, member D"", ""histone 1, H2ak"""	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.235A>C	6.37:g.27805883T>G	ENSP00000330307:p.Ile79Leu		Somatic					p.I79L	NM_003510.2	NP_003501.1	WXS	Illumina GAIIx	Phase_I	P0C0S8	H2A1_HUMAN			1	234	-			79					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000330180.2	37	c.235A>C	CCDS4632.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.257302	0.80246	.	.	ENSG00000184348	ENST00000330180	T	0.69685	-0.42	4.28	4.28	0.50868	.	0.000000	0.31507	U	0.007535	T	0.67468	0.2896	.	.	.	0.34434	D	0.69886	.	.	.	.	.	.	T	0.74222	-0.3735	7	0.87932	D	0	.	13.277	0.60191	0.0:0.0:0.0:1.0	.	.	.	.	L	79	ENSP00000330307:I79L	ENSP00000330307:I79L	I	-	1	0	HIST1H2AK	27913862	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.949000	0.70257	1.860000	0.53959	0.454000	0.30748	ATC		0.627	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043814.1	NM_003510		72	54	0	0	0	1	0	72	54				
C14orf93	60686	broad.mit.edu	37	14	23468074	23468074	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:23468074C>A	ENST00000299088.6	-	2	588	c.159G>T	c.(157-159)ttG>ttT	p.L53F	RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000341470.4_Missense_Mutation_p.L53F|C14orf93_ENST00000397382.4_Missense_Mutation_p.L53F|C14orf93_ENST00000406429.2_Missense_Mutation_p.L53F|C14orf93_ENST00000557513.1_5'Flank|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000397379.3_Missense_Mutation_p.L53F|RP11-298I3.4_ENST00000555294.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	53						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TCTGAACAGCCAAGCCATGTC	0.582																																						ENST00000299088.6																			0				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(157-159)ttG>ttT		chromosome 14 open reading frame 93							51.0	46.0	48.0					14																	23468074		2203	4300	6503	SO:0001583	missense	60686					extracellular region		g.chr14:23468074C>A	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.159G>T	14.37:g.23468074C>A	ENSP00000299088:p.Leu53Phe		Somatic				C14orf93_ENST00000406429.2_Missense_Mutation_p.L53F|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000397379.3_Missense_Mutation_p.L53F|C14orf93_ENST00000397382.4_Missense_Mutation_p.L53F|C14orf93_ENST00000341470.4_Missense_Mutation_p.L53F|RP11-298I3.4_ENST00000556503.1_RNA	p.L53F	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	WXS	Illumina GAIIx	Phase_I	Q9H972	CN093_HUMAN		GBM - Glioblastoma multiforme(265;0.0127)	2	588	-	all_cancers(95;3.3e-05)		53					B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	c.159G>T	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634028	0.67130	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000406429;ENST00000397380;ENST00000553675;ENST00000553931;ENST00000555575;ENST00000553958;ENST00000555098	T;T;T;T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.93	1.78	0.24846	.	0.115670	0.38326	N	0.001730	T	0.50735	0.1633	L	0.27053	0.805	0.33556	D	0.596736	D;D	0.71674	0.995;0.998	D;D	0.69142	0.944;0.962	T	0.59731	-0.7399	10	0.66056	D	0.02	-24.5127	4.0523	0.09801	0.1265:0.4992:0.2465:0.1278	.	53;53	Q9H972;Q9H972-2	CN093_HUMAN;.	F	53	ENSP00000299088:L53F;ENSP00000341353:L53F;ENSP00000380535:L53F;ENSP00000380538:L53F;ENSP00000384768:L53F;ENSP00000380536:L53F;ENSP00000450771:L53F;ENSP00000452036:L53F;ENSP00000451111:L53F;ENSP00000451456:L53F;ENSP00000450866:L53F	ENSP00000299088:L53F	L	-	3	2	C14orf93	22537914	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	0.644000	0.24766	0.796000	0.33947	-0.181000	0.13052	TTG		0.582	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		4	68	1	0	2.48551e-13	1	2.60386e-13	4	68				
SYT17	51760	broad.mit.edu	37	16	19191802	19191802	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:19191802G>T	ENST00000355377.2	+	4	670	c.272G>T	c.(271-273)gGa>gTa	p.G91V	SYT17_ENST00000562711.2_Missense_Mutation_p.G87V|SYT17_ENST00000568115.1_Missense_Mutation_p.G30V|SYT17_ENST00000562034.1_Missense_Mutation_p.G30V	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	91					exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TCCCCGGATGGAAGACGCTCG	0.582											OREG0023658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000562034.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						c.(88-90)gGa>gTa		synaptotagmin XVII							89.0	72.0	78.0					16																	19191802		2197	4300	6497	SO:0001583	missense	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19191802G>T		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.272G>T	16.37:g.19191802G>T	ENSP00000347538:p.Gly91Val		Somatic	OREG0023658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	731	SYT17_ENST00000562711.2_Missense_Mutation_p.G87V|SYT17_ENST00000568115.1_Missense_Mutation_p.G30V|SYT17_ENST00000355377.2_Missense_Mutation_p.G91V	p.G30V			WXS	Illumina GAIIx	Phase_I	Q9BSW7	SYT17_HUMAN			2	3887	+			91			Cys-rich.		O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	c.89G>T	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046510	0.55110	.	.	ENSG00000103528	ENST00000355377	T	0.15834	2.39	4.73	2.78	0.32641	.	0.356527	0.24236	N	0.040307	T	0.08179	0.0204	N	0.08118	0	0.80722	D	1	B;B	0.17667	0.023;0.023	B;B	0.20384	0.014;0.029	T	0.19224	-1.0312	10	0.12766	T	0.61	.	11.8063	0.52156	0.1497:0.0:0.8503:0.0	.	91;30	Q9BSW7;B4DJB2	SYT17_HUMAN;.	V	91	ENSP00000347538:G91V	ENSP00000347538:G91V	G	+	2	0	SYT17	19099303	1.000000	0.71417	0.989000	0.46669	0.974000	0.67602	2.966000	0.49208	1.366000	0.46076	0.655000	0.94253	GGA		0.582	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		6	101	1	0	0.000157383	1	0.00016194	6	101				
GGA1	26088	broad.mit.edu	37	22	38010280	38010280	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:38010280G>A	ENST00000343632.4	+	2	513	c.127G>A	c.(127-129)Ggg>Agg	p.G43R	GGA1_ENST00000337437.4_Splice_Site_p.G43R|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000414350.3_Splice_Site_p.G43R|GGA1_ENST00000405147.3_Splice_Site_p.G43R|GGA1_ENST00000381756.5_Splice_Site_p.G43R|GGA1_ENST00000325180.8_Splice_Site_p.G43R	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	43	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G43R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGACTTTGAGGGGTAGGTGGC	0.592																																						ENST00000343632.4																			1	Substitution - Missense(1)	p.G43R(1)	kidney(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.e2+1		golgi-associated, gamma adaptin ear containing, ARF binding protein 1							79.0	67.0	71.0					22																	38010280		2203	4300	6503	SO:0001630	splice_region_variant	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38010280G>A	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.128+1G>A	22.37:g.38010280G>A			Somatic				GGA1_ENST00000414350.3_Splice_Site_p.G43_splice|GGA1_ENST00000405147.3_Splice_Site_p.G43_splice|GGA1_ENST00000381756.5_Splice_Site_p.G43_splice|GGA1_ENST00000337437.4_Splice_Site_p.G43_splice|GGA1_ENST00000325180.8_Splice_Site_p.G43_splice|GGA1_ENST00000406772.1_5'UTR	p.G43_splice	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	WXS	Illumina GAIIx	Phase_I	Q9UJY5	GGA1_HUMAN			2	513	+	Melanoma(58;0.0574)		43			VHS.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Splice_Site	SNP	ENST00000343632.4	37	c.128_splice	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948893	0.92660	.	.	ENSG00000100083	ENST00000414350;ENST00000343632;ENST00000381756;ENST00000405147;ENST00000325180;ENST00000337437;ENST00000449944	T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89	4.41	4.41	0.53225	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.000000	0.85682	D	0.000000	T	0.61413	0.2345	M	0.93106	3.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.999;1.0;0.999;0.989	T	0.73802	-0.3868	10	0.87932	D	0	-33.5231	17.1826	0.86858	0.0:0.0:1.0:0.0	.	43;43;43;43	Q6IC75;Q86YA9;Q9UJY5;Q8NCS6	.;.;GGA1_HUMAN;.	R	43;43;43;43;43;43;35	ENSP00000414387:G43R;ENSP00000341344:G43R;ENSP00000371175:G43R;ENSP00000384030:G43R;ENSP00000321288:G43R;ENSP00000338647:G43R;ENSP00000390416:G35R	ENSP00000321288:G43R	G	+	1	0	GGA1	36340226	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	9.399000	0.97285	2.287000	0.76781	0.462000	0.41574	GGG		0.592	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365	Missense_Mutation	10	24	0	0	0	1	0	10	24				
KLHL7	55975	broad.mit.edu	37	7	23180390	23180390	+	Missense_Mutation	SNP	A	A	T	rs372990687		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:23180390A>T	ENST00000339077.5	+	5	688	c.445A>T	c.(445-447)Ata>Tta	p.I149L	KLHL7_ENST00000322231.7_Missense_Mutation_p.I127L|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000539124.1_Missense_Mutation_p.I73L|KLHL7_ENST00000409689.1_Missense_Mutation_p.I101L|KLHL7_ENST00000545443.1_Missense_Mutation_p.I127L|KLHL7_ENST00000542558.1_5'UTR	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	149	BACK.				protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTGTTTAGGTATAAGTGTGCT	0.318																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(379-381)Ata>Tta		kelch-like family member 7		A	LEU/ILE,LEU/ILE	1,4405	2.1+/-5.4	0,1,2202	65.0	65.0	65.0		445,301	4.0	1.0	7		65	0,8600		0,0,4300	no	missense,missense	KLHL7	NM_001031710.2,NM_018846.4	5,5	0,1,6502	TT,TA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging	149/587,101/539	23180390	1,13005	2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23180390A>T		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.445A>T	7.37:g.23180390A>T	ENSP00000343273:p.Ile149Leu		Somatic				KLHL7_ENST00000409689.1_Missense_Mutation_p.I101L|KLHL7_ENST00000545443.1_Missense_Mutation_p.I127L|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000539124.1_Missense_Mutation_p.I73L|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000339077.4_Missense_Mutation_p.I149L	p.I127L			WXS	Illumina GAIIx	Phase_I	Q8IXQ5	KLHL7_HUMAN			6	869	+			149					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.379A>T	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.498212	0.44455	2.27E-4	0.0	ENSG00000122550	ENST00000322231;ENST00000339077;ENST00000539124;ENST00000409689;ENST00000545443	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	5.2	4.03	0.46877	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.72236	0.3435	M	0.74258	2.255	0.80722	D	1	P;P	0.45126	0.779;0.851	B;B	0.44224	0.425;0.444	T	0.74968	-0.3483	10	0.87932	D	0	.	11.6072	0.51039	0.8664:0.0:0.0:0.1336	.	149;127	Q8IXQ5;Q8IXQ5-2	KLHL7_HUMAN;.	L	127;149;73;101;127	ENSP00000322958:I127L;ENSP00000343273:I149L;ENSP00000441136:I73L;ENSP00000386263:I101L;ENSP00000442366:I127L	ENSP00000322958:I127L	I	+	1	0	KLHL7	23146915	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	8.649000	0.91067	0.898000	0.36418	-0.490000	0.04691	ATA		0.318	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		4	85	0	0	0	1	0	4	85				
KCNJ10	3766	broad.mit.edu	37	1	160011814	160011814	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:160011814G>A	ENST00000368089.3	-	2	735	c.509C>T	c.(508-510)gCc>gTc	p.A170V	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	170					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	CTTGGGCCGGGCAATCTTCGC	0.547																																					GBM(167;1368 2014 14817 36425 43215)	ENST00000368089.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17						c.(508-510)gCc>gTc		potassium inwardly-rectifying channel, subfamily J, member 10							85.0	82.0	83.0					1																	160011814		2203	4300	6503	SO:0001583	missense	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160011814G>A	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.509C>T	1.37:g.160011814G>A	ENSP00000357068:p.Ala170Val		Somatic				KCNJ10_ENST00000509700.1_5'UTR	p.A170V	NM_002241.4	NP_002232.2	WXS	Illumina GAIIx	Phase_I	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	735	-	all_hematologic(112;0.093)		170					A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	c.509C>T	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651165	0.88056	.	.	ENSG00000177807	ENST00000368089	D	0.95622	-3.76	5.44	5.44	0.79542	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97005	0.9022	M	0.67700	2.07	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.97029	0.9749	10	0.66056	D	0.02	.	16.8112	0.85720	0.0:0.0:1.0:0.0	.	170	P78508	IRK10_HUMAN	V	170	ENSP00000357068:A170V	ENSP00000357068:A170V	A	-	2	0	KCNJ10	158278438	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.657000	0.98554	2.837000	0.97791	0.655000	0.94253	GCC		0.547	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		6	854	0	0	0	1	0	6	854				
OR11H6	122748	broad.mit.edu	37	14	20691896	20691896	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:20691896A>T	ENST00000315519.2	+	1	106	c.28A>T	c.(28-30)Act>Tct	p.T10S		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TTCTTTGGTTACTTCTGTTTT	0.378																																						ENST00000315519.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(28-30)Act>Tct		olfactory receptor, family 11, subfamily H, member 6							79.0	84.0	82.0					14																	20691896		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20691896A>T		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.28A>T	14.37:g.20691896A>T	ENSP00000319071:p.Thr10Ser		Somatic					p.T10S	NM_001004480.1	NP_001004480.1	WXS	Illumina GAIIx	Phase_I	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	106	+	all_cancers(95;0.00108)		10					Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.28A>T	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	a	10.85	1.468050	0.26335	.	.	ENSG00000176219	ENST00000315519	T	0.00535	6.73	4.75	-6.88	0.01665	.	2.191770	0.02552	N	0.095761	T	0.00241	0.0007	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46303	-0.9201	10	0.05833	T	0.94	.	2.5026	0.04637	0.2086:0.3347:0.3273:0.1293	.	10	Q8NGC7	O11H6_HUMAN	S	10	ENSP00000319071:T10S	ENSP00000319071:T10S	T	+	1	0	OR11H6	19761736	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-0.817000	0.04472	-1.380000	0.02115	0.363000	0.22086	ACT		0.378	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			5	84	0	0	0	1	0	5	84				
RNF17	56163	broad.mit.edu	37	13	25367255	25367255	+	Silent	SNP	C	C	T	rs141654694		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:25367255C>T	ENST00000255324.5	+	10	1063	c.1011C>T	c.(1009-1011)taC>taT	p.Y337Y	RNF17_ENST00000381921.1_Silent_p.Y337Y|RNF17_ENST00000255325.6_Silent_p.Y337Y|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	337					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Y337Y(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTCTTGTTACGATACATACC	0.348																																						ENST00000255324.5																			2	Substitution - coding silent(2)	p.Y337Y(2)	breast(2)	NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(1009-1011)taC>taT		ring finger protein 17		C	,	0,4406		0,0,2203	131.0	128.0	129.0		1011,1011	3.9	0.0	13	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RNF17	NM_001184993.1,NM_031277.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	337/1620,337/1624	25367255	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25367255C>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1011C>T	13.37:g.25367255C>T			Somatic				RNF17_ENST00000381921.1_Silent_p.Y337Y|RNF17_ENST00000255325.5_Silent_p.Y338Y|RNF17_ENST00000255326.4_3'UTR	p.Y337Y	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	WXS	Illumina GAIIx	Phase_I	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	10	1063	+		Lung SC(185;0.0225)|Breast(139;0.077)	337					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.1011C>T	CCDS9308.2																																																																																				0.348	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		5	320	0	0	0	1	0	5	320				
MRGPRD	116512	broad.mit.edu	37	11	68747926	68747926	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:68747926C>G	ENST00000309106.3	-	1	529	c.530G>C	c.(529-531)aGg>aCg	p.R177T		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	177						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R177M(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CATGTCCACCCTGAAGCACCG	0.562																																						ENST00000309106.3																			1	Substitution - Missense(1)	p.R177M(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22						c.(529-531)aGg>aCg		MAS-related GPR, member D							56.0	46.0	49.0					11																	68747926		2200	4294	6494	SO:0001583	missense	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68747926C>G	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.530G>C	11.37:g.68747926C>G	ENSP00000310631:p.Arg177Thr		Somatic					p.R177T	NM_198923.2	NP_944605.2	WXS	Illumina GAIIx	Phase_I	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	529	-			177					Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	c.530G>C	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	C	1.734	-0.493302	0.04322	.	.	ENSG00000172938	ENST00000309106	T	0.35605	1.3	4.41	-8.82	0.00810	GPCR, rhodopsin-like superfamily (1);	1.643860	0.04312	N	0.349204	T	0.10852	0.0265	N	0.03917	-0.325	0.09310	N	1	B	0.14012	0.009	B	0.18871	0.023	T	0.18023	-1.0350	10	0.10902	T	0.67	0.0196	0.8269	0.01122	0.2061:0.2428:0.1625:0.3886	.	177	Q8TDS7	MRGRD_HUMAN	T	177	ENSP00000310631:R177T	ENSP00000310631:R177T	R	-	2	0	MRGPRD	68504502	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.186000	0.00143	-3.174000	0.00224	-0.727000	0.03589	AGG		0.562	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		5	65	0	0	0	1	0	5	65				
ARHGAP12	94134	broad.mit.edu	37	10	32197563	32197563	+	Missense_Mutation	SNP	C	C	T	rs150296370		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:32197563C>T	ENST00000344936.2	-	3	455	c.221G>A	c.(220-222)cGc>cAc	p.R74H	ARHGAP12_ENST00000375250.5_Missense_Mutation_p.R74H|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R74H|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R74H|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R74H	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	74	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GAGAGCTTTGCGCGTGACCTC	0.453																																						ENST00000375250.5																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.(220-222)cGc>cAc		Rho GTPase activating protein 12							111.0	96.0	101.0					10																	32197563		2203	4300	6503	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32197563C>T	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.221G>A	10.37:g.32197563C>T	ENSP00000345808:p.Arg74His		Somatic				ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R74H|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R74H|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.R74H|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R74H	p.R74H	NM_001270696.1	NP_001257625.1	WXS	Illumina GAIIx	Phase_I	Q8IWW6	RHG12_HUMAN			3	462	-		Prostate(175;0.0199)	74			SH3.		B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.221G>A	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687912	0.88639	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.83	5.83	0.93111	Src homology-3 domain (2);	0.108146	0.64402	D	0.000007	T	0.54319	0.1851	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999	T	0.49643	-0.8918	10	0.56958	D	0.05	.	20.115	0.97926	0.0:1.0:0.0:0.0	.	74;74;74;74;74;74	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	H	74	ENSP00000310984:R74H;ENSP00000364399:R74H;ENSP00000345808:R74H;ENSP00000379448:R74H;ENSP00000364394:R74H	ENSP00000310984:R74H	R	-	2	0	ARHGAP12	32237569	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.219000	0.78000	2.761000	0.94854	0.650000	0.86243	CGC		0.453	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			3	116	0	0	0	1	0	3	116				
LHX4	89884	broad.mit.edu	37	1	180243581	180243581	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:180243581G>A	ENST00000263726.2	+	6	1284	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	347					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GCAGGGCAGGGAGTAAGCCAG	0.572																																						ENST00000263726.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						c.(1039-1041)gGa>gAa		LIM homeobox 4							217.0	213.0	214.0					1																	180243581		2203	4300	6503	SO:0001583	missense	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180243581G>A	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.1040G>A	1.37:g.180243581G>A	ENSP00000263726:p.Gly347Glu		Somatic				RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	p.G347E	NM_033343.3	NP_203129.1	WXS	Illumina GAIIx	Phase_I	Q969G2	LHX4_HUMAN			6	1284	+			347					Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	ENST00000263726.2	37	c.1040G>A	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356282	0.82243	.	.	ENSG00000121454	ENST00000263726	D	0.88818	-2.43	5.68	5.68	0.88126	.	0.056443	0.64402	D	0.000001	D	0.91851	0.7421	L	0.57536	1.79	0.58432	D	0.999993	D	0.54601	0.967	P	0.56343	0.796	D	0.92252	0.5809	10	0.66056	D	0.02	.	16.7056	0.85371	0.0:0.0:1.0:0.0	.	347	Q969G2	LHX4_HUMAN	E	347	ENSP00000263726:G347E	ENSP00000263726:G347E	G	+	2	0	LHX4	178510204	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	7.324000	0.79115	2.662000	0.90505	0.655000	0.94253	GGA		0.572	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		70	1027	0	0	0	1	0	70	1027				
H1F0	3005	broad.mit.edu	37	22	38201974	38201974	+	Silent	SNP	C	C	A	rs370894514	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:38201974C>A	ENST00000340857.2	+	1	861	c.423C>A	c.(421-423)acC>acA	p.T141T	GCAT_ENST00000248924.6_5'Flank|GCAT_ENST00000323205.6_5'Flank	NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	141					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|nucleosome assembly (GO:0006334)	actin cytoskeleton (GO:0015629)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.T141T(1)		cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					CCAAAGCCACCCCGGTCAAGA	0.532																																					NSCLC(191;1872 2984 30230 41544)|Esophageal Squamous(4;11 371 39444 52196)	ENST00000340857.2																			1	Substitution - coding silent(1)	p.T141T(1)	kidney(1)	cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7						c.(421-423)acC>acA		H1 histone family, member 0							61.0	65.0	64.0					22																	38201974		2202	4300	6502	SO:0001819	synonymous_variant	3005				DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding	g.chr22:38201974C>A	X03473	CCDS13956.1	22q13.1	2011-01-27			ENSG00000189060	ENSG00000189060		"""Histones / Replication-independent"""	4714	protein-coding gene	gene with protein product	"""H1.0, H1(0), H1-0"""	142708		H1FV		3084796	Standard	NM_005318		Approved	H10	uc003aty.3	P07305	OTTHUMG00000150659	ENST00000340857.2:c.423C>A	22.37:g.38201974C>A			Somatic					p.T141T	NM_005318.3	NP_005309.1	WXS	Illumina GAIIx	Phase_I	P07305	H10_HUMAN			1	861	+	Melanoma(58;0.045)		141					B2R6I0|B4DRD6|Q6FG88|Q8N6R3	Silent	SNP	ENST00000340857.2	37	c.423C>A	CCDS13956.1																																																																																				0.532	H1F0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319453.1	NM_005318		17	27	1	0	0.575678	1	0.578181	17	27				
DENND2C	163259	broad.mit.edu	37	1	115137133	115137133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:115137133G>A	ENST00000393274.1	-	18	3017	c.2392C>T	c.(2392-2394)Cga>Tga	p.R798*	DENND2C_ENST00000393276.3_Nonsense_Mutation_p.R741*|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Nonsense_Mutation_p.R686*	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	798					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R741*(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTTCATTTCGTTCTTCCAAA	0.358																																						ENST00000393274.1																			1	Substitution - Nonsense(1)	p.R741*(1)	kidney(1)	NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(2392-2394)Cga>Tga		DENN/MADD domain containing 2C							143.0	139.0	140.0					1																	115137133		2203	4300	6503	SO:0001587	stop_gained	163259							g.chr1:115137133G>A		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2392C>T	1.37:g.115137133G>A	ENSP00000376955:p.Arg798*		Somatic				DENND2C_ENST00000393276.3_Nonsense_Mutation_p.R741*|DENND2C_ENST00000393277.1_Nonsense_Mutation_p.R686*|DENND2C_ENST00000481894.1_5'UTR	p.R798*	NM_001256404.1	NP_001243333.1	WXS	Illumina GAIIx	Phase_I	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	18	3017	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	798					B1AL26|Q5TCX6|Q6P3R3	Nonsense_Mutation	SNP	ENST00000393274.1	37	c.2392C>T	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	G	45	11.590686	0.99580	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.737	0.62824	0.0:0.0:0.7314:0.2686	.	.	.	.	X	741;798;798;686	.	ENSP00000358553:R798X	R	-	1	2	DENND2C	114938656	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.921000	0.48852	2.822000	0.97130	0.558000	0.71614	CGA		0.358	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		25	119	0	0	0	1	0	25	119				
ARSJ	79642	broad.mit.edu	37	4	114824336	114824336	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:114824336G>A	ENST00000315366.7	-	2	1760	c.894C>T	c.(892-894)tcC>tcT	p.S298S	ARSJ_ENST00000541197.1_Silent_p.S298S	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	298					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CATCTAAGCAGGAAAGCATGG	0.418																																						ENST00000315366.7																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21						c.(892-894)tcC>tcT		arylsulfatase family, member J							136.0	125.0	129.0					4																	114824336		1977	4180	6157	SO:0001819	synonymous_variant	79642					extracellular region	arylsulfatase activity|metal ion binding	g.chr4:114824336G>A		CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.894C>T	4.37:g.114824336G>A			Somatic				ARSJ_ENST00000541197.1_Silent_p.S298S	p.S298S	NM_024590.3	NP_078866.3	WXS	Illumina GAIIx	Phase_I	Q5FYB0	ARSJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	2	1760	-		Ovarian(17;0.0035)|Hepatocellular(203;0.217)	298					A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Silent	SNP	ENST00000315366.7	37	c.894C>T	CCDS43264.1																																																																																				0.418	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590		19	131	0	0	0	1	0	19	131				
LAMP5	24141	broad.mit.edu	37	20	9498708	9498708	+	Missense_Mutation	SNP	C	C	T	rs369320779		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:9498708C>T	ENST00000246070.2	+	5	989	c.497C>T	c.(496-498)tCg>tTg	p.S166L	LAMP5_ENST00000427562.2_Missense_Mutation_p.S122L	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	166						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											ACAGCCAACTCGCACCACCTC	0.532																																						ENST00000246070.2																			0											c.(496-498)tCg>tTg		lysosomal-associated membrane protein family, member 5							101.0	80.0	87.0					20																	9498708		2203	4300	6503	SO:0001583	missense	24141					integral to membrane		g.chr20:9498708C>T	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.497C>T	20.37:g.9498708C>T	ENSP00000246070:p.Ser166Leu		Somatic				LAMP5_ENST00000427562.2_Missense_Mutation_p.S122L	p.S166L	NM_012261.3	NP_036393.1	WXS	Illumina GAIIx	Phase_I	Q9UJQ1	CT103_HUMAN			5	989	+			166					B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	c.497C>T	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440871	0.63067	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.33438	1.41;1.41	5.93	5.93	0.95920	.	0.252217	0.40064	N	0.001182	T	0.22399	0.0540	N	0.14661	0.345	0.53688	D	0.99997	D;B	0.62365	0.991;0.233	P;B	0.44518	0.452;0.019	T	0.01853	-1.1260	9	.	.	.	-10.7048	15.7912	0.78367	0.0:0.8647:0.1353:0.0	.	122;166	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	L	166;122	ENSP00000246070:S166L;ENSP00000406360:S122L	.	S	+	2	0	C20orf103	9446708	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.577000	0.67444	2.826000	0.97356	0.655000	0.94253	TCG		0.532	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		4	163	0	0	0	1	0	4	163				
RANBP2	5903	broad.mit.edu	37	2	109371542	109371542	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:109371542T>A	ENST00000283195.6	+	16	2508		c.e16+2			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGTTACAAGGTAAACAGGAAA	0.299																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.e16+2		RAN binding protein 2							60.0	66.0	64.0					2																	109371542		2180	4274	6454	SO:0001630	splice_region_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371542T>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2382+2T>A	2.37:g.109371542T>A			Somatic						NM_006267.4	NP_006258.3	WXS	Illumina GAIIx	Phase_I	P49792	RBP2_HUMAN			16	2508	+								Q13074|Q15280|Q53TE2|Q59FH7	Splice_Site	SNP	ENST00000283195.6	37		CCDS2079.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.459393	0.26248	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.77	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6828	0.40080	0.0:0.0796:0.0:0.9204	.	.	.	.	.	-1	.	.	.	+	.	.	RANBP2	108737974	1.000000	0.71417	0.956000	0.39512	0.101000	0.19017	4.633000	0.61318	1.020000	0.39573	0.443000	0.29094	.		0.299	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Intron	5	181	0	0	0	1	0	5	181				
SNHG14	104472715	broad.mit.edu	37	15	25492361	25492361	+	RNA	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:25492361C>T	ENST00000453082.2	+	0	2822				SNORD115-43_ENST00000365503.1_RNA|SNORD115-41_ENST00000363608.1_RNA|SNORD115-42_ENST00000364273.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		CAGTGGCCATCAGCCTGTTGC	0.607																																						ENST00000453082.2																			0																																																			104472715							g.chr15:25492361C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25492361C>T			Somatic						NR_003343.1		WXS	Illumina GAIIx	Phase_I					0	2822	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.607	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			3	34	0	0	0	1	0	3	34				
IGDCC4	57722	broad.mit.edu	37	15	65686806	65686806	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:65686806T>G	ENST00000352385.2	-	9	1866	c.1657A>C	c.(1657-1659)Agc>Cgc	p.S553R		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	553	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTGCTCAGGCTGGGGGGCAGG	0.597																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(1657-1659)Agc>Cgc		immunoglobulin superfamily, DCC subclass, member 4							113.0	105.0	108.0					15																	65686806		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65686806T>G		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1657A>C	15.37:g.65686806T>G	ENSP00000319623:p.Ser553Arg		Somatic					p.S553R	NM_020962.1	NP_066013.1	WXS	Illumina GAIIx	Phase_I	Q8TDY8	IGDC4_HUMAN			9	1866	-			553			Fibronectin type-III 2.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.1657A>C	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.591714	0.46214	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.54866	0.55	5.43	-0.988	0.10245	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.496832	0.22138	N	0.064098	T	0.41166	0.1147	L	0.50333	1.59	0.31012	N	0.719155	B	0.33318	0.408	B	0.37198	0.243	T	0.39014	-0.9634	10	0.27082	T	0.32	-7.6881	6.8874	0.24209	0.1773:0.5934:0.0:0.2293	.	553	Q8TDY8	IGDC4_HUMAN	R	553;282	ENSP00000319623:S553R	ENSP00000319623:S553R	S	-	1	0	IGDCC4	63473859	0.668000	0.27493	0.977000	0.42913	0.961000	0.63080	1.115000	0.31209	0.056000	0.16144	-0.256000	0.11100	AGC		0.597	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		5	130	0	0	0	1	0	5	130				
ZZEF1	23140	broad.mit.edu	37	17	3962582	3962582	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:3962582T>A	ENST00000381638.2	-	31	5010	c.4886A>T	c.(4885-4887)tAt>tTt	p.Y1629F	RNA5SP434_ENST00000516647.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1629							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTGTCCAAAATAACTAGAAAC	0.348																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(4885-4887)tAt>tTt		zinc finger, ZZ-type with EF-hand domain 1							81.0	77.0	79.0					17																	3962582		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3962582T>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4886A>T	17.37:g.3962582T>A	ENSP00000371051:p.Tyr1629Phe		Somatic					p.Y1629F	NM_015113.3	NP_055928.3	WXS	Illumina GAIIx	Phase_I	O43149	ZZEF1_HUMAN			31	5010	-			1629					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.4886A>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.441698	0.83993	.	.	ENSG00000074755	ENST00000381638	T	0.30182	1.54	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	M	0.62723	1.935	0.54753	D	0.999984	D;D	0.67145	0.996;0.993	D;P	0.64321	0.924;0.842	T	0.52845	-0.8521	10	0.59425	D	0.04	-12.7337	15.1298	0.72514	0.0:0.0:0.0:1.0	.	1629;1629	O43149-2;O43149	.;ZZEF1_HUMAN	F	1629	ENSP00000371051:Y1629F	ENSP00000371051:Y1629F	Y	-	2	0	ZZEF1	3909331	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.855000	0.69510	1.981000	0.57761	0.454000	0.30748	TAT		0.348	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		4	115	0	0	0	1	0	4	115				
FANCA	2175	broad.mit.edu	37	16	89838183	89838183	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:89838183C>T	ENST00000389301.3	-	23	2084	c.2054G>A	c.(2053-2055)aGg>aAg	p.R685K	FANCA_ENST00000568369.1_Missense_Mutation_p.R685K|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	685					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R685K(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CAGGACAGCCCTCAGTCTTTC	0.517			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			1	Substitution - Missense(1)	p.R685K(1)	kidney(1)	breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(2053-2055)aGg>aAg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							134.0	111.0	118.0					16																	89838183		2198	4300	6498	SO:0001583	missense	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89838183C>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2054G>A	16.37:g.89838183C>T	ENSP00000373952:p.Arg685Lys		Somatic				FANCA_ENST00000567284.2_5'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.R685K	p.R685K	NM_000135.2	NP_000126.2	WXS	Illumina GAIIx	Phase_I	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	23	2084	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	685					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.2054G>A	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	C	3.492	-0.103691	0.06967	.	.	ENSG00000187741	ENST00000389301	D	0.83591	-1.74	4.45	-4.06	0.03986	.	3.134130	0.00718	N	0.000862	T	0.67325	0.2881	N	0.16368	0.405	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.63462	-0.6632	10	0.02654	T	1	1.9262	10.9509	0.47327	0.0:0.3362:0.0:0.6638	.	685;685	B4DRI7;O15360	.;FANCA_HUMAN	K	685	ENSP00000373952:R685K	ENSP00000373952:R685K	R	-	2	0	FANCA	88365684	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	-3.269000	0.00532	-0.762000	0.04664	0.551000	0.68910	AGG		0.517	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			50	147	0	0	0	1	0	50	147				
MXRA5	25878	broad.mit.edu	37	X	3229667	3229667	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:3229667T>A	ENST00000217939.6	-	7	6733		c.e7-2			NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5							extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTATCAAAACTACAGAAAAAA	0.423																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.e7-2		matrix-remodelling associated 5							32.0	34.0	33.0					X																	3229667		2181	4157	6338	SO:0001630	splice_region_variant	25878					extracellular region		g.chrX:3229667T>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6579-2A>T	X.37:g.3229667T>A			Somatic						NM_015419.3	NP_056234.2	WXS	Illumina GAIIx	Phase_I	Q9NR99	MXRA5_HUMAN			7	6733	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)						Q6P1M7|Q9Y3Y8	Splice_Site	SNP	ENST00000217939.6	37		CCDS14124.1	.	.	.	.	.	.	.	.	.	.	T	7.979	0.750847	0.15778	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	.	.	.	3.64	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.02	0.53337	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MXRA5	3239667	1.000000	0.71417	0.018000	0.16275	0.022000	0.10575	6.880000	0.75578	1.186000	0.42985	0.409000	0.27619	.		0.423	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	Intron	5	47	0	0	0	1	0	5	47				
KAT6A	7994	broad.mit.edu	37	8	41798514	41798514	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:41798514A>T	ENST00000396930.3	-	16	3428	c.2885T>A	c.(2884-2886)tTa>tAa	p.L962*	KAT6A_ENST00000265713.2_Nonsense_Mutation_p.L962*|KAT6A_ENST00000406337.1_Nonsense_Mutation_p.L962*	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	962					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TCCTTCTGTTAATCTGCACTT	0.592																																						ENST00000396930.3																			0											c.(2884-2886)tTa>tAa		K(lysine) acetyltransferase 6A							116.0	114.0	115.0					8																	41798514		2203	4300	6503	SO:0001587	stop_gained	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798514A>T	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2885T>A	8.37:g.41798514A>T	ENSP00000380136:p.Leu962*		Somatic				KAT6A_ENST00000406337.1_Nonsense_Mutation_p.L962*|KAT6A_ENST00000265713.2_Nonsense_Mutation_p.L962*	p.L962*	NM_001099412.1	NP_001092882.1	WXS	Illumina GAIIx	Phase_I	Q92794	MYST3_HUMAN			16	3428	-			962					Q76L81	Nonsense_Mutation	SNP	ENST00000396930.3	37	c.2885T>A	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	A	40	8.358809	0.98777	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	.	.	.	5.36	2.95	0.34219	.	0.415793	0.18517	N	0.138861	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.029	7.9702	0.30124	0.7912:0.1376:0.0712:0.0	.	.	.	.	X	962;962;962;542	.	ENSP00000265713:L962X	L	-	2	0	KAT6A	41917671	0.406000	0.25344	0.000000	0.03702	0.000000	0.00434	5.425000	0.66470	0.336000	0.23639	-0.323000	0.08544	TTA		0.592	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		10	1673	0	0	0	1	0	10	1673				
TRAF2	7186	broad.mit.edu	37	9	139802586	139802586	+	Missense_Mutation	SNP	G	G	T	rs377582627		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:139802586G>T	ENST00000247668.2	+	5	483	c.431G>T	c.(430-432)cGc>cTc	p.R144L	TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000359662.3_Missense_Mutation_p.R196L|TRAF2_ENST00000536468.1_Missense_Mutation_p.R144L	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	144					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GGCCTGGTCCGCCTTGGTGAA	0.642																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(586-588)cGc>cTc		TNF receptor-associated factor 2							50.0	51.0	50.0					9																	139802586		2203	4300	6503	SO:0001583	missense	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139802586G>T	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.431G>T	9.37:g.139802586G>T	ENSP00000247668:p.Arg144Leu		Somatic				TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000247668.2_Missense_Mutation_p.R144L|TRAF2_ENST00000536468.1_Missense_Mutation_p.R144L	p.R196L			WXS	Illumina GAIIx	Phase_I	Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	5	632	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	144					A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.587G>T	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423477	0.25639	.	.	ENSG00000127191	ENST00000419057;ENST00000536468;ENST00000429509;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T;T;T	0.37235	1.86;1.44;1.86;1.44;1.21	4.16	3.17	0.36434	Zinc finger, TRAF-type (1);	0.222996	0.34156	N	0.004204	T	0.18551	0.0445	N	0.16098	0.37	0.09310	N	1	B;B;B;B	0.16396	0.003;0.005;0.017;0.002	B;B;B;B	0.20955	0.022;0.022;0.032;0.004	T	0.09422	-1.0675	10	0.26408	T	0.33	-49.91	6.7078	0.23260	0.1136:0.1871:0.6994:0.0	.	133;144;196;144	Q12933-3;Q12933-4;Q12933-2;Q12933	.;.;.;TRAF2_HUMAN	L	144;144;144;168;144;196;196	ENSP00000405860:R144L;ENSP00000446414:R144L;ENSP00000406524:R144L;ENSP00000247668:R144L;ENSP00000352685:R196L	ENSP00000247668:R144L	R	+	2	0	TRAF2	138922407	0.001000	0.12720	1.000000	0.80357	0.804000	0.45430	0.793000	0.26944	2.162000	0.67917	0.561000	0.74099	CGC		0.642	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		5	59	1	0	0.0215528	1	0.0218843	5	59				
IL7R	3575	broad.mit.edu	37	5	35871222	35871222	+	Silent	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:35871222G>T	ENST00000303115.3	+	4	573	c.444G>T	c.(442-444)gtG>gtT	p.V148V	IL7R_ENST00000343305.4_Silent_p.V148V|IL7R_ENST00000506850.1_Silent_p.V148V	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	148	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.V148V(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACTTTGTGGTGACATTTAATA	0.388			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		1	Substitution - coding silent(1)	p.V148V(1)	kidney(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(442-444)gtG>gtT		interleukin 7 receptor							81.0	79.0	79.0					5																	35871222		2203	4300	6503	SO:0001819	synonymous_variant	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35871222G>T	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.444G>T	5.37:g.35871222G>T			Somatic				IL7R_ENST00000343305.4_Silent_p.V148V|IL7R_ENST00000506850.1_Silent_p.V148V	p.V148V	NM_002185.3	NP_002176.2	WXS	Illumina GAIIx	Phase_I	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		4	573	+	all_lung(31;0.00015)		148			Fibronectin type-III.		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Silent	SNP	ENST00000303115.3	37	c.444G>T	CCDS3911.1																																																																																				0.388	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			27	69	1	0	6.38683e-12	1	6.67583e-12	27	69				
RHOBTB3	22836	broad.mit.edu	37	5	95087941	95087941	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:95087941A>T	ENST00000379982.3	+	5	1078		c.e5-1		GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3						ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TTCCTGTTTTAGTTGGAGTAT	0.303																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.e5-1		Rho-related BTB domain containing 3							72.0	75.0	74.0					5																	95087941		2203	4298	6501	SO:0001630	splice_region_variant	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95087941A>T	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.571-1A>T	5.37:g.95087941A>T			Somatic				GLRX_ENST00000508780.1_Intron		NM_014899.3	NP_055714.3	WXS	Illumina GAIIx	Phase_I	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	5	1078	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)						A0PJA4|A8K1W9|Q8IW06	Splice_Site	SNP	ENST00000379982.3	37		CCDS4077.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959638	0.74016	.	.	ENSG00000164292	ENST00000379982	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5765	0.76392	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RHOBTB3	95113697	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.557000	0.73937	2.213000	0.71641	0.477000	0.44152	.		0.303	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899	Intron	6	57	0	0	0	1	0	6	57				
TUBA3E	112714	broad.mit.edu	37	2	130952659	130952659	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:130952659C>T	ENST00000312988.7	-	3	468	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	123					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R123H(1)		endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TACCAGTTTGCGGATCCGGTC	0.498																																						ENST00000312988.7																			1	Substitution - Missense(1)	p.R123H(1)	large_intestine(1)	endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(367-369)cGc>cAc		tubulin, alpha 3e							148.0	142.0	144.0					2																	130952659		2203	4300	6503	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130952659C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.368G>A	2.37:g.130952659C>T	ENSP00000318197:p.Arg123His		Somatic					p.R123H	NM_207312.2	NP_997195.1	WXS	Illumina GAIIx	Phase_I	Q6PEY2	TBA3E_HUMAN			3	468	-	Colorectal(110;0.1)		123						Missense_Mutation	SNP	ENST00000312988.7	37	c.368G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	12.44	1.938632	0.34189	.	.	ENSG00000152086	ENST00000312988	T	0.72615	-0.67	2.95	2.95	0.34219	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.51477	U	0.000088	D	0.86648	0.5983	H	0.97103	3.94	0.47994	D	0.999563	B	0.32968	0.392	P	0.51135	0.66	D	0.89058	0.3460	10	0.72032	D	0.01	.	11.6556	0.51315	0.0:1.0:0.0:0.0	.	123	Q6PEY2	TBA3E_HUMAN	H	123	ENSP00000318197:R123H	ENSP00000318197:R123H	R	-	2	0	TUBA3E	130669129	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.473000	0.73572	1.656000	0.50722	0.455000	0.32223	CGC		0.498	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		4	474	0	0	0	1	0	4	474				
PNMA1	9240	broad.mit.edu	37	14	74179820	74179820	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:74179820C>T	ENST00000316836.3	-	1	1308	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	175					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		tcaaaggtttcctctccaggc	0.498																																						ENST00000316836.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13						c.(523-525)Gaa>Aaa		paraneoplastic Ma antigen 1							49.0	49.0	49.0					14																	74179820		2203	4300	6503	SO:0001583	missense	9240				apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding	g.chr14:74179820C>T	AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.523G>A	14.37:g.74179820C>T	ENSP00000318914:p.Glu175Lys		Somatic					p.E175K	NM_006029.4	NP_006020.4	WXS	Illumina GAIIx	Phase_I	Q8ND90	PNMA1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)	1	1308	-			175					A8K4L5|O95144|Q8NG07	Missense_Mutation	SNP	ENST00000316836.3	37	c.523G>A	CCDS9818.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611546	0.66558	.	.	ENSG00000176903	ENST00000316836	T	0.14022	2.54	3.9	3.9	0.45041	.	0.000000	0.47852	D	0.000213	T	0.35653	0.0939	M	0.78344	2.41	0.37531	D	0.917908	D	0.89917	1.0	D	0.76575	0.988	T	0.34601	-0.9822	10	0.66056	D	0.02	-16.3288	11.6899	0.51510	0.0:1.0:0.0:0.0	.	175	Q8ND90	PNMA1_HUMAN	K	175	ENSP00000318914:E175K	ENSP00000318914:E175K	E	-	1	0	PNMA1	73249573	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.984000	0.49353	2.475000	0.83589	0.655000	0.94253	GAA		0.498	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1	NM_006029		4	58	0	0	0	1	0	4	58				
ITGAL	3683	broad.mit.edu	37	16	30521685	30521685	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:30521685C>T	ENST00000356798.6	+	22	2692	c.2512C>T	c.(2512-2514)Cat>Tat	p.H838Y	ITGAL_ENST00000358164.5_Missense_Mutation_p.H754Y|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	838					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CTCCCAGCCCCATAGCCAGAT	0.562																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2512-2514)Cat>Tat		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						133.0	123.0	127.0					16																	30521685		2197	4300	6497	SO:0001583	missense	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30521685C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2512C>T	16.37:g.30521685C>T	ENSP00000349252:p.His838Tyr		Somatic				ITGAL_ENST00000358164.5_Missense_Mutation_p.H754Y|ITGAL_ENST00000433423.2_Intron	p.H838Y	NM_002209.2	NP_002200.2	WXS	Illumina GAIIx	Phase_I	P20701	ITAL_HUMAN			22	2692	+			838					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2512C>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	c	13.61	2.288828	0.40494	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.45276	0.9;0.9	4.45	3.48	0.39840	Integrin alpha-2 (1);	0.000000	0.44285	D	0.000463	T	0.50718	0.1632	M	0.73962	2.25	0.80722	D	1	D;P	0.56287	0.975;0.945	P;P	0.57009	0.811;0.74	T	0.55496	-0.8132	10	0.07175	T	0.84	.	10.1929	0.43037	0.2146:0.7854:0.0:0.0	.	754;838	Q96HB1;P20701	.;ITAL_HUMAN	Y	838;754	ENSP00000349252:H838Y;ENSP00000350886:H754Y	ENSP00000349252:H838Y	H	+	1	0	ITGAL	30429186	0.771000	0.28555	0.979000	0.43373	0.191000	0.23601	1.290000	0.33319	1.163000	0.42636	0.187000	0.17357	CAT		0.562	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			13	412	0	0	0	1	0	13	412				
PCDHGA11	56105	broad.mit.edu	37	5	140801364	140801364	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:140801364C>T	ENST00000398587.2	+	1	603	c.570C>T	c.(568-570)gcC>gcT	p.A190A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Silent_p.A190A|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	190	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATGGGGCCAAGAATCCAG	0.552																																						ENST00000398587.2																			0				breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(568-570)gcC>gcT									40.0	43.0	42.0					5																	140801364		1977	4167	6144	SO:0001819	synonymous_variant	56105							g.chr5:140801364C>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.570C>T	5.37:g.140801364C>T			Somatic				PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.A190A|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron	p.A190A	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	603	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	ENST00000398587.2	37	c.570C>T	CCDS47294.1																																																																																				0.552	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		35	50	0	0	0	1	0	35	50				
AAMP	14	broad.mit.edu	37	2	219131621	219131621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:219131621C>T	ENST00000248450.4	-	4	653	c.483G>A	c.(481-483)tgG>tgA	p.W161*	AAMP_ENST00000444053.1_Nonsense_Mutation_p.W162*|AAMP_ENST00000420660.1_Nonsense_Mutation_p.W142*			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	161					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCCACCTGCCACACTTTCA	0.537																																						ENST00000248450.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11						c.(481-483)tgG>tgA		angio-associated, migratory cell protein							79.0	82.0	81.0					2																	219131621		2203	4300	6503	SO:0001587	stop_gained	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219131621C>T	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"""WD repeat domain containing"""	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.483G>A	2.37:g.219131621C>T	ENSP00000248450:p.Trp161*		Somatic				AAMP_ENST00000420660.1_Nonsense_Mutation_p.W142*|AAMP_ENST00000444053.1_Nonsense_Mutation_p.W162*	p.W161*			WXS	Illumina GAIIx	Phase_I	Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	653	-		Renal(207;0.0474)	161					Q8WUJ9|Q96H92	Nonsense_Mutation	SNP	ENST00000248450.4	37	c.483G>A	CCDS33378.1	.	.	.	.	.	.	.	.	.	.	C	38	6.858401	0.97889	.	.	ENSG00000127837	ENST00000248450;ENST00000444053;ENST00000420660;ENST00000447885	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7876	18.8213	0.92099	0.0:1.0:0.0:0.0	.	.	.	.	X	161;162;142;115	.	ENSP00000248450:W161X	W	-	3	0	AAMP	218839865	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	2.421000	0.82119	0.655000	0.94253	TGG		0.537	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		3	79	0	0	0	1	0	3	79				
TET2	54790	broad.mit.edu	37	4	106156899	106156899	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:106156899G>A	ENST00000540549.1	+	3	2660	c.1800G>A	c.(1798-1800)atG>atA	p.M600I	TET2_ENST00000513237.1_Missense_Mutation_p.M621I|TET2_ENST00000413648.2_Missense_Mutation_p.M600I|TET2_ENST00000545826.1_Missense_Mutation_p.M600I|TET2_ENST00000380013.4_Missense_Mutation_p.M600I|TET2_ENST00000305737.2_Missense_Mutation_p.M600I|TET2_ENST00000394764.1_Missense_Mutation_p.M600I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	600	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CCAATCAAATGACCTCCAAAC	0.468			"""Mis N, F"""		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(1861-1863)atG>atA		tet methylcytosine dioxygenase 2							63.0	63.0	63.0					4																	106156899		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106156899G>A	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1800G>A	4.37:g.106156899G>A	ENSP00000442788:p.Met600Ile		Somatic				TET2_ENST00000540549.1_Missense_Mutation_p.M600I|TET2_ENST00000413648.2_Missense_Mutation_p.M600I|TET2_ENST00000305737.2_Missense_Mutation_p.M600I|TET2_ENST00000394764.1_Missense_Mutation_p.M600I|TET2_ENST00000545826.1_Missense_Mutation_p.M600I|TET2_ENST00000380013.4_Missense_Mutation_p.M600I	p.M621I			WXS	Illumina GAIIx	Phase_I	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2660	+		Myeloproliferative disorder(5;0.0393)	600			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.1863G>A	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	G	9.990	1.230463	0.22542	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.59	2.94	0.34122	.	4.190850	0.00496	N	0.000143	T	0.13286	0.0322	N	0.14661	0.345	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.001;0.003	T	0.24154	-1.0168	10	0.18710	T	0.47	.	4.6426	0.12556	0.307:0.0:0.5427:0.1504	.	621;600;600	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	I	600;600;600;621;600;600;600;600	ENSP00000306705:M600I;ENSP00000442788:M600I;ENSP00000442867:M600I;ENSP00000425443:M621I;ENSP00000369351:M600I;ENSP00000378245:M600I;ENSP00000391448:M600I	ENSP00000265149:M600I	M	+	3	0	TET2	106376348	0.000000	0.05858	0.938000	0.37757	0.930000	0.56654	-0.117000	0.10708	0.311000	0.23014	0.650000	0.86243	ATG		0.468	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		4	92	0	0	0	1	0	4	92				
DENND2D	79961	broad.mit.edu	37	1	111734916	111734916	+	Missense_Mutation	SNP	G	G	T	rs376513608		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:111734916G>T	ENST00000357640.4	-	8	1047	c.818C>A	c.(817-819)gCt>gAt	p.A273D	DENND2D_ENST00000473682.1_5'Flank|DENND2D_ENST00000369752.5_Missense_Mutation_p.A270D	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	273	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A273D(1)|p.A273E(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TGCGGCAGCAGCATGGATGCA	0.627																																						ENST00000357640.4																			2	Substitution - Missense(2)	p.A273D(1)|p.A273E(1)	kidney(2)	breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(817-819)gCt>gAt		DENN/MADD domain containing 2D							68.0	58.0	62.0					1																	111734916		2203	4300	6503	SO:0001583	missense	79961							g.chr1:111734916G>T		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.818C>A	1.37:g.111734916G>T	ENSP00000350266:p.Ala273Asp		Somatic				DENND2D_ENST00000369752.5_Missense_Mutation_p.A270D	p.A273D	NM_024901.3	NP_079177.2	WXS	Illumina GAIIx	Phase_I	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	8	1047	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	273			DENN.		Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	c.818C>A	CCDS831.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697118	0.88830	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.19938	2.11;2.11	5.5	5.5	0.81552	DENN (3);	0.000000	0.85682	D	0.000000	T	0.51500	0.1678	M	0.92555	3.32	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62632	-0.6813	10	0.87932	D	0	-14.0475	17.249	0.87037	0.0:0.0:1.0:0.0	.	270;273	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	D	273;270	ENSP00000350266:A273D;ENSP00000358767:A270D	ENSP00000350266:A273D	A	-	2	0	DENND2D	111536439	1.000000	0.71417	0.979000	0.43373	0.794000	0.44872	9.420000	0.97426	2.750000	0.94351	0.467000	0.42956	GCT		0.627	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		45	91	1	0	1.56989e-16	1	1.65214e-16	45	91				
DENND2D	79961	broad.mit.edu	37	1	111734915	111734915	+	Silent	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:111734915A>C	ENST00000357640.4	-	8	1048	c.819T>G	c.(817-819)gcT>gcG	p.A273A	DENND2D_ENST00000473682.1_5'Flank|DENND2D_ENST00000369752.5_Silent_p.A270A	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	273	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A273E(1)|p.A273A(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GTGCGGCAGCAGCATGGATGC	0.632																																						ENST00000357640.4																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.A273E(1)|p.A273A(1)	kidney(2)	breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(817-819)gcT>gcG		DENN/MADD domain containing 2D							69.0	59.0	62.0					1																	111734915		2203	4300	6503	SO:0001819	synonymous_variant	79961							g.chr1:111734915A>C		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.819T>G	1.37:g.111734915A>C			Somatic				DENND2D_ENST00000369752.5_Silent_p.A270A	p.A273A	NM_024901.3	NP_079177.2	WXS	Illumina GAIIx	Phase_I	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	8	1048	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	273			DENN.		Q5T5V6|Q9BSU0	Silent	SNP	ENST00000357640.4	37	c.819T>G	CCDS831.1																																																																																				0.632	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		44	94	0	0	0	1	0	44	94				
RYR2	6262	broad.mit.edu	37	1	237948244	237948244	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:237948244C>T	ENST00000366574.2	+	90	13549	c.13232C>T	c.(13231-13233)cCc>cTc	p.P4411L	RYR2_ENST00000360064.6_Missense_Mutation_p.P4417L|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.P4395L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4411					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACCCAGTCCCCATGCCTGAG	0.448																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(13231-13233)cCc>cTc		ryanodine receptor 2 (cardiac)							21.0	19.0	20.0					1																	237948244		1899	4135	6034	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237948244C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13232C>T	1.37:g.237948244C>T	ENSP00000355533:p.Pro4411Leu		Somatic				RYR2_ENST00000360064.6_Missense_Mutation_p.P4417L|RYR2_ENST00000542537.1_Missense_Mutation_p.P4395L	p.P4411L	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13549	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4411					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.13232C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	5.496	0.276558	0.10403	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.93189	-3.18;-3.18;-3.18	5.88	4.96	0.65561	Ryanodine Receptor TM 4-6 (1);	0.177647	0.35525	N	0.003152	D	0.92018	0.7471	N	0.16368	0.405	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	D	0.88235	0.2906	10	0.06494	T	0.89	-12.0652	15.322	0.74129	0.0:0.9325:0.0:0.0675	.	1385;4411	B4DGV4;Q92736	.;RYR2_HUMAN	L	4411;4417;4395;1385	ENSP00000355533:P4411L;ENSP00000353174:P4417L;ENSP00000443798:P4395L	ENSP00000353174:P4417L	P	+	2	0	RYR2	236014867	0.997000	0.39634	0.755000	0.31263	0.048000	0.14542	5.192000	0.65115	1.466000	0.48025	0.655000	0.94253	CCC		0.448	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	46	0	0	0	1	0	6	46				
XYLT1	64131	broad.mit.edu	37	16	17252757	17252757	+	Missense_Mutation	SNP	G	G	C	rs147074504	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:17252757G>C	ENST00000261381.6	-	6	1383	c.1299C>G	c.(1297-1299)gaC>gaG	p.D433E		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	433					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCACCAACTGGTCATTTGTCC	0.498																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1297-1299)gaC>gaG		xylosyltransferase I							86.0	80.0	82.0					16																	17252757		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17252757G>C	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1299C>G	16.37:g.17252757G>C	ENSP00000261381:p.Asp433Glu		Somatic					p.D433E	NM_022166.3	NP_071449.1	WXS	Illumina GAIIx	Phase_I	Q86Y38	XYLT1_HUMAN			6	1383	-			433					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.1299C>G	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.868575	0.32977	.	.	ENSG00000103489	ENST00000261381	T	0.11712	2.75	4.9	2.7	0.31948	.	0.045732	0.85682	D	0.000000	T	0.09862	0.0242	L	0.35723	1.085	0.50467	D	0.999877	P	0.38148	0.62	B	0.40066	0.318	T	0.23797	-1.0178	10	0.24483	T	0.36	-42.3979	11.1505	0.48455	0.1964:0.0:0.8036:0.0	.	433	Q86Y38	XYLT1_HUMAN	E	433	ENSP00000261381:D433E	ENSP00000261381:D433E	D	-	3	2	XYLT1	17160258	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.117000	0.31234	0.494000	0.27859	0.563000	0.77884	GAC		0.498	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		5	239	0	0	0	1	0	5	239				
TBX3	6926	broad.mit.edu	37	12	115120913	115120913	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:115120913G>A	ENST00000257566.3	-	1	482	c.93C>T	c.(91-93)agC>agT	p.S31S	TBX3_ENST00000349155.2_Silent_p.S31S	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	31					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CCAGCACCGCGCTCATGGCGA	0.682											OREG0022153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(91-93)agC>agT		T-box 3							24.0	27.0	26.0					12																	115120913		2125	4212	6337	SO:0001819	synonymous_variant	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115120913G>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.93C>T	12.37:g.115120913G>A			Somatic	OREG0022153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1463	TBX3_ENST00000257566.3_Silent_p.S31S	p.S31S	NM_005996.3	NP_005987.3	WXS	Illumina GAIIx	Phase_I	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	1	1056	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		31					Q8TB20|Q9UKF8	Silent	SNP	ENST00000257566.3	37	c.93C>T	CCDS9176.1																																																																																				0.682	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		9	76	0	0	0	1	0	9	76				
OSBPL2	9885	broad.mit.edu	37	20	60861652	60861652	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:60861652G>A	ENST00000313733.3	+	11	1212	c.1010G>A	c.(1009-1011)gGg>gAg	p.G337E	OSBPL2_ENST00000358053.2_Missense_Mutation_p.G325E|OSBPL2_ENST00000439951.2_Missense_Mutation_p.G245E	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	337					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GAAGACTCCGGGAAGGCTGAC	0.632																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1009-1011)gGg>gAg		oxysterol binding protein-like 2							103.0	98.0	99.0					20																	60861652		2203	4300	6503	SO:0001583	missense	9885				lipid transport		lipid binding	g.chr20:60861652G>A	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.1010G>A	20.37:g.60861652G>A	ENSP00000316649:p.Gly337Glu		Somatic				OSBPL2_ENST00000439951.2_Missense_Mutation_p.G245E|OSBPL2_ENST00000358053.2_Missense_Mutation_p.G325E	p.G337E	NM_144498.1	NP_653081.1	WXS	Illumina GAIIx	Phase_I	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		11	1212	+	Breast(26;7.76e-09)		337					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	c.1010G>A	CCDS13495.1	.	.	.	.	.	.	.	.	.	.	G	0.046	-1.266175	0.01433	.	.	ENSG00000130703	ENST00000358053;ENST00000313733;ENST00000439951	T;T;T	0.41065	1.06;1.06;1.01	4.65	2.3	0.28687	.	1.388800	0.04693	N	0.414479	T	0.15825	0.0381	N	0.02202	-0.64	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.30534	-0.9975	10	0.02654	T	1	-15.6688	3.3097	0.07013	0.5386:0.0:0.1043:0.3571	.	245;325;337	E7ET92;Q9H1P3-2;Q9H1P3	.;.;OSBL2_HUMAN	E	325;337;245	ENSP00000350755:G325E;ENSP00000316649:G337E;ENSP00000397602:G245E	ENSP00000316649:G337E	G	+	2	0	OSBPL2	60295047	0.322000	0.24634	0.001000	0.08648	0.000000	0.00434	0.923000	0.28757	0.159000	0.19401	-0.302000	0.09304	GGG		0.632	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		32	107	0	0	0	1	0	32	107				
VPS26A	9559	broad.mit.edu	37	10	70917845	70917845	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:70917845G>A	ENST00000373382.1	+	6	1082	c.429G>A	c.(427-429)ttG>ttA	p.L143L	VPS26A_ENST00000263559.6_Silent_p.L143L|VPS26A_ENST00000546041.1_Silent_p.L126L|VPS26A_ENST00000541711.1_Silent_p.L32L|VPS26A_ENST00000490696.1_Intron|VPS26A_ENST00000395098.1_Silent_p.L143L|VPS26A_ENST00000489794.1_Silent_p.L118L			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	143					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TGACAGATTTGGTAAAAGAGT	0.338																																					Colon(90;545 1358 4729 6702 16773)	ENST00000373382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						c.(427-429)ttG>ttA		vacuolar protein sorting 26 homolog A (S. pombe)							99.0	95.0	97.0					10																	70917845		2203	4300	6503	SO:0001819	synonymous_variant	9559				retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity	g.chr10:70917845G>A	AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"""vacuolar protein sorting 26 (yeast homolog)"", ""vacuolar protein sorting 26 (yeast)"", ""vacuolar protein sorting 26 homolog A (yeast)"""	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.429G>A	10.37:g.70917845G>A			Somatic				VPS26A_ENST00000490696.1_Intron|VPS26A_ENST00000489794.1_Silent_p.L118L|VPS26A_ENST00000395098.1_Silent_p.L143L|VPS26A_ENST00000546041.1_Silent_p.L126L|VPS26A_ENST00000263559.6_Silent_p.L143L|VPS26A_ENST00000541711.1_Silent_p.L32L	p.L143L			WXS	Illumina GAIIx	Phase_I	O75436	VP26A_HUMAN			6	1082	+			143					A8MZ56|B2RDD3|Q8TBH4|Q9H982	Silent	SNP	ENST00000373382.1	37	c.429G>A	CCDS7286.1																																																																																				0.338	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	NM_004896		4	37	0	0	0	1	0	4	37				
SF3B3	23450	broad.mit.edu	37	16	70605038	70605038	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:70605038C>T	ENST00000302516.5	+	25	3660	c.3449C>T	c.(3448-3450)tCt>tTt	p.S1150F		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1150					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CACCTGCGGTCTGAACATCCC	0.498																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(3448-3450)tCt>tTt		splicing factor 3b, subunit 3, 130kDa							150.0	141.0	144.0					16																	70605038		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70605038C>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3449C>T	16.37:g.70605038C>T	ENSP00000305790:p.Ser1150Phe		Somatic					p.S1150F	NM_012426.4	NP_036558.3	WXS	Illumina GAIIx	Phase_I	Q15393	SF3B3_HUMAN			25	3660	+		Ovarian(137;0.0694)	1150					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.3449C>T	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159716	0.94727	.	.	ENSG00000189091	ENST00000302516	T	0.47869	0.83	5.78	5.78	0.91487	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	M	0.77486	2.375	0.80722	D	1	P	0.36660	0.564	P	0.49561	0.615	T	0.67413	-0.5677	10	0.72032	D	0.01	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	1150	Q15393	SF3B3_HUMAN	F	1150	ENSP00000305790:S1150F	ENSP00000305790:S1150F	S	+	2	0	SF3B3	69162539	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.741000	0.84997	2.724000	0.93272	0.563000	0.77884	TCT		0.498	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		14	353	0	0	0	1	0	14	353				
KRTAP10-5	386680	broad.mit.edu	37	21	46000292	46000292	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:46000292G>A	ENST00000400372.1	-	1	189	c.164C>T	c.(163-165)gCc>gTc	p.A55V	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	55	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGGCTCACAGGCCGCCTGGCA	0.721																																						ENST00000400372.1																			0				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(163-165)gCc>gTc		keratin associated protein 10-5							31.0	36.0	34.0					21																	46000292		2191	4281	6472	SO:0001583	missense	386680					keratin filament		g.chr21:46000292G>A	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.164C>T	21.37:g.46000292G>A	ENSP00000383223:p.Ala55Val		Somatic				TSPEAR_ENST00000323084.4_Intron	p.A55V	NM_198694.2	NP_941967.2	WXS	Illumina GAIIx	Phase_I	P60370	KR105_HUMAN			1	189	-			55			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.164C>T	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	g	3.164	-0.171386	0.06421	.	.	ENSG00000241123	ENST00000400372	T	0.00724	5.78	1.91	-2.73	0.05950	.	.	.	.	.	T	0.00695	0.0023	L	0.45228	1.405	0.09310	N	1	B	0.28419	0.211	B	0.15870	0.014	T	0.42816	-0.9429	9	0.32370	T	0.25	.	4.5288	0.11995	0.0:0.4646:0.3015:0.2339	.	55	P60370	KR105_HUMAN	V	55	ENSP00000383223:A55V	ENSP00000383223:A55V	A	-	2	0	KRTAP10-5	44824720	0.009000	0.17119	0.008000	0.14137	0.027000	0.11550	-0.863000	0.04259	-0.291000	0.09012	-0.535000	0.04281	GCC		0.721	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			10	197	0	0	0	1	0	10	197				
CDH17	1015	broad.mit.edu	37	8	95182724	95182724	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:95182724G>A	ENST00000027335.3	-	9	1091	c.967C>T	c.(967-969)Ccg>Tcg	p.P323S	CDH17_ENST00000450165.2_Missense_Mutation_p.P323S|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	323	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATTTCCAGCGGATATGAAAGT	0.418																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(967-969)Ccg>Tcg		cadherin 17, LI cadherin (liver-intestine)							117.0	112.0	114.0					8																	95182724		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95182724G>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.967C>T	8.37:g.95182724G>A	ENSP00000027335:p.Pro323Ser		Somatic				CDH17_ENST00000450165.2_Missense_Mutation_p.P323S|CDH17_ENST00000441892.2_Intron	p.P323S	NM_004063.3	NP_004054.3	WXS	Illumina GAIIx	Phase_I	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		9	1091	-	Breast(36;4.65e-06)		323			Cadherin 3.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.967C>T	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496448	0.26861	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.51071	0.72;0.72	6.06	2.23	0.28157	Cadherin (5);Cadherin-like (1);	0.500574	0.18653	N	0.134952	T	0.60971	0.2310	M	0.72576	2.205	0.22171	N	0.999313	D	0.89917	1.0	D	0.72075	0.976	T	0.50608	-0.8808	10	0.29301	T	0.29	-0.5384	8.2307	0.31597	0.1342:0.2419:0.6239:0.0	.	323	Q12864	CAD17_HUMAN	S	323	ENSP00000027335:P323S;ENSP00000401468:P323S	ENSP00000027335:P323S	P	-	1	0	CDH17	95251900	1.000000	0.71417	0.001000	0.08648	0.008000	0.06430	3.908000	0.56355	0.134000	0.18681	-0.182000	0.12963	CCG		0.418	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		4	302	0	0	0	1	0	4	302				
GPRIN3	285513	broad.mit.edu	37	4	90170079	90170079	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:90170079G>A	ENST00000609438.1	-	2	1701	c.1183C>T	c.(1183-1185)Cag>Tag	p.Q395*	GPRIN3_ENST00000333209.4_Nonsense_Mutation_p.Q395*	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	395										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GCAGCTGCCTGAATGTGCACC	0.557																																						ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(1183-1185)Cag>Tag		GPRIN family member 3							79.0	81.0	80.0					4																	90170079		2203	4300	6503	SO:0001587	stop_gained	285513							g.chr4:90170079G>A	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1183C>T	4.37:g.90170079G>A	ENSP00000476603:p.Gln395*		Somatic					p.Q395*	NM_198281.2	NP_938022.2	WXS	Illumina GAIIx	Phase_I	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1701	-		Hepatocellular(203;0.114)	395					Q8IVE4	Nonsense_Mutation	SNP	ENST00000609438.1	37	c.1183C>T	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	39	7.576955	0.98368	.	.	ENSG00000185477	ENST00000333209	.	.	.	5.1	5.1	0.69264	.	0.568407	0.13333	N	0.395780	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-1.4271	13.7216	0.62730	0.0:0.1662:0.8338:0.0	.	.	.	.	X	395	.	ENSP00000328672:Q395X	Q	-	1	0	GPRIN3	90389102	0.971000	0.33674	0.387000	0.26183	0.367000	0.29736	4.946000	0.63576	2.652000	0.90054	0.655000	0.94253	CAG		0.557	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		9	121	0	0	0	1	0	9	121				
SEC24D	9871	broad.mit.edu	37	4	119686074	119686074	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:119686074T>A	ENST00000280551.6	-	10	1419		c.e10-2		SEC24D_ENST00000379735.5_Splice_Site|SEC24D_ENST00000505134.1_Splice_Site|SEC24D_ENST00000419654.2_Splice_Site|SEC24D_ENST00000511481.1_Splice_Site			O94855	SC24D_HUMAN	SEC24 family member D						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATGGTGGAACTAATAAAAACA	0.323																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.e10-2		SEC24 family member D							78.0	80.0	79.0					4																	119686074		2203	4300	6503	SO:0001630	splice_region_variant	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119686074T>A	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.1181-2A>T	4.37:g.119686074T>A			Somatic				SEC24D_ENST00000511481.1_Splice_Site|SEC24D_ENST00000505134.1_Splice_Site|SEC24D_ENST00000419654.2_Splice_Site|SEC24D_ENST00000280551.6_Splice_Site		NM_014822.2	NP_055637.2	WXS	Illumina GAIIx	Phase_I	O94855	SC24D_HUMAN			10	1455	-								Q8IYI7	Splice_Site	SNP	ENST00000280551.6	37		CCDS3710.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274498	0.80580	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000511481	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0154	0.80434	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEC24D	119905522	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.941000	0.87700	2.244000	0.73946	0.477000	0.44152	.		0.323	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4		Intron	5	98	0	0	0	1	0	5	98				
SMYD3	64754	broad.mit.edu	37	1	246498749	246498749	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:246498749C>T	ENST00000388985.4	-	3	255	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	SMYD3_ENST00000541742.1_Missense_Mutation_p.E27K|SMYD3_ENST00000490107.1_Missense_Mutation_p.E27K|SMYD3_ENST00000403792.3_Missense_Mutation_p.E86K			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	86	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		CATTTGCATTCCCGCTTGTGG	0.393																																						ENST00000490107.1																			0				breast(3)|large_intestine(5)|lung(8)|skin(1)	17						c.(79-81)Gaa>Aaa		SET and MYND domain containing 3							152.0	153.0	153.0					1																	246498749		2203	4300	6503	SO:0001583	missense	64754					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:246498749C>T	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.256G>A	1.37:g.246498749C>T	ENSP00000373637:p.Glu86Lys		Somatic				SMYD3_ENST00000388985.4_Missense_Mutation_p.E86K|SMYD3_ENST00000403792.3_Missense_Mutation_p.E86K|SMYD3_ENST00000541742.1_Missense_Mutation_p.E27K	p.E27K	NM_001167740.1	NP_001161212.1	WXS	Illumina GAIIx	Phase_I	Q9H7B4	SMYD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)	3	295	-	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	86					A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Missense_Mutation	SNP	ENST00000388985.4	37	c.79G>A	CCDS53486.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274876	0.80580	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000388985;ENST00000453676;ENST00000403792;ENST00000455277	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	5.41	5.41	0.78517	SET domain (2);Zinc finger, MYND-type (3);	0.134859	0.47852	D	0.000218	T	0.41650	0.1168	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.28713	-1.0035	10	0.87932	D	0	-26.8226	18.557	0.91089	0.0:1.0:0.0:0.0	.	86	Q9H7B4	SMYD3_HUMAN	K	27;27;86;27;86;27	ENSP00000444184:E27K;ENSP00000419184:E27K;ENSP00000373637:E86K;ENSP00000408122:E27K;ENSP00000385380:E86K	ENSP00000373637:E86K	E	-	1	0	SMYD3	244565372	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	5.566000	0.67372	2.704000	0.92352	0.655000	0.94253	GAA		0.393	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743		16	155	0	0	0	1	0	16	155				
PKD1L1	168507	broad.mit.edu	37	7	47884655	47884655	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:47884655G>A	ENST00000289672.2	-	33	5225	c.5175C>T	c.(5173-5175)ttC>ttT	p.F1725F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1725	GPS.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTAGGAGAGCGAATGCCGCGA	0.458																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(5173-5175)ttC>ttT		polycystic kidney disease 1 like 1							93.0	84.0	87.0					7																	47884655		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47884655G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5175C>T	7.37:g.47884655G>A			Somatic					p.F1725F	NM_138295.3	NP_612152.1	WXS	Illumina GAIIx	Phase_I	Q8TDX9	PK1L1_HUMAN			33	5225	-			1725			GPS.		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.5175C>T	CCDS34633.1																																																																																				0.458	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		4	89	0	0	0	1	0	4	89				
SLC15A2	6565	broad.mit.edu	37	3	121659283	121659283	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:121659283C>A	ENST00000489711.1	+	21	2349	c.1961C>A	c.(1960-1962)gCa>gAa	p.A654E	SLC15A2_ENST00000295605.2_Missense_Mutation_p.A623E	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	654					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TTGACAATTGCAGTTGGGAAT	0.478																																						ENST00000489711.1																			0				NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36						c.(1960-1962)gCa>gAa		solute carrier family 15 (oligopeptide transporter), member 2	Cefadroxil(DB01140)						167.0	145.0	152.0					3																	121659283		2203	4300	6503	SO:0001583	missense	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121659283C>A	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1961C>A	3.37:g.121659283C>A	ENSP00000417085:p.Ala654Glu		Somatic				SLC15A2_ENST00000295605.2_Missense_Mutation_p.A623E	p.A654E	NM_021082.3	NP_066568.3	WXS	Illumina GAIIx	Phase_I	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	21	2349	+			654					A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	c.1961C>A	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394862	0.83011	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.39997	1.05;1.05	5.19	4.31	0.51392	.	0.106321	0.64402	N	0.000005	T	0.73567	0.3603	H	0.96777	3.88	0.80722	D	1	D;D	0.69078	0.997;0.994	D;D	0.65684	0.937;0.937	T	0.82979	-0.0188	10	0.87932	D	0	-5.6456	13.3201	0.60428	0.0:0.8208:0.1792:0.0	.	623;654	B4E2A7;Q16348	.;S15A2_HUMAN	E	654;616;623	ENSP00000417085:A654E;ENSP00000295605:A623E	ENSP00000295605:A623E	A	+	2	0	SLC15A2	123141973	1.000000	0.71417	0.974000	0.42286	0.701000	0.40568	5.603000	0.67619	1.373000	0.46208	0.563000	0.77884	GCA		0.478	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		19	371	1	0	1.55795e-14	1	1.63584e-14	19	371				
DAP3	7818	broad.mit.edu	37	1	155695235	155695235	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:155695235C>T	ENST00000368336.5	+	5	457	c.333C>T	c.(331-333)taC>taT	p.Y111Y	DAP3_ENST00000496863.1_3'UTR|DAP3_ENST00000535183.1_Silent_p.Y70Y|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000471642.2_Silent_p.Y70Y|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Silent_p.Y111Y|DAP3_ENST00000421487.2_Silent_p.Y77Y	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	111					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTCTGCATTACCTGAAAAACA	0.453																																						ENST00000368336.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(331-333)taC>taT		death associated protein 3							222.0	206.0	211.0					1																	155695235		2203	4300	6503	SO:0001819	synonymous_variant	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155695235C>T	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.333C>T	1.37:g.155695235C>T			Somatic				MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000343043.3_Silent_p.Y111Y|DAP3_ENST00000421487.2_Silent_p.Y77Y|DAP3_ENST00000535183.1_Silent_p.Y70Y|DAP3_ENST00000471214.1_3'UTR|MSTO1_ENST00000452804.2_Intron	p.Y111Y	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	WXS	Illumina GAIIx	Phase_I	P51398	RT29_HUMAN			5	457	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		111					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Silent	SNP	ENST00000368336.5	37	c.333C>T	CCDS1120.1																																																																																				0.453	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		76	366	0	0	0	1	0	76	366				
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C	rs201078380		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:12501446T>C	ENST00000430385.3	-	4	1966	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	ZNF799_ENST00000419318.1_Missense_Mutation_p.E557G|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		22235	0.0		0.0	False		,,,				2504	0.001					ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1669-1671)gAa>gGa		zinc finger protein 799							71.0	74.0	73.0					19																	12501446		2202	4278	6480	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501446T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1766A>G	19.37:g.12501446T>C	ENSP00000411084:p.Glu589Gly		Somatic				ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G|CTD-3105H18.14_ENST00000435033.1_Intron	p.E557G			WXS	Illumina GAIIx	Phase_I	Q96GE5	ZN799_HUMAN			4	2419	-			589						Missense_Mutation	SNP	ENST00000430385.3	37	c.1670A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326777	0.24080	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.22743	1.94;1.94	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.45228	1.405	0.09310	N	1	P	0.42692	0.787	P	0.53760	0.734	T	0.11446	-1.0587	9	0.49607	T	0.09	.	5.3684	0.16127	0.0:0.0:0.2914:0.7086	.	589	Q96GE5	ZN799_HUMAN	G	557;589	ENSP00000415278:E557G;ENSP00000411084:E589G	ENSP00000415278:E557G	E	-	2	0	ZNF799	12362446	0.000000	0.05858	0.018000	0.16275	0.046000	0.14306	-0.655000	0.05348	0.842000	0.35045	0.347000	0.21830	GAA		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		4	237	0	0	0	1	0	4	237				
RYR3	6263	broad.mit.edu	37	15	34130561	34130561	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:34130561C>T	ENST00000389232.4	+	89	12450	c.12380C>T	c.(12379-12381)gCg>gTg	p.A4127V	RYR3_ENST00000415757.3_Missense_Mutation_p.A4122V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4127					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTAGAAATTGCGGGTGAAGAG	0.483																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(12379-12381)gCg>gTg		ryanodine receptor 3							144.0	143.0	143.0					15																	34130561		1889	4100	5989	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130561C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12380C>T	15.37:g.34130561C>T	ENSP00000373884:p.Ala4127Val		Somatic				RYR3_ENST00000415757.3_Missense_Mutation_p.A4122V	p.A4127V	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	12450	+		all_lung(180;7.18e-09)	4127					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.12380C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	0.146	-1.097237	0.01843	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.96619	-4.07	5.8	2.07	0.26955	.	0.644280	0.15045	N	0.283606	D	0.91526	0.7324	L	0.41492	1.28	0.09310	N	1	B;B	0.15141	0.001;0.012	B;B	0.10450	0.002;0.005	T	0.83074	-0.0141	10	0.45353	T	0.12	.	3.025	0.06087	0.3072:0.4573:0.0931:0.1424	.	4122;4127	Q15413-2;Q15413	.;RYR3_HUMAN	V	4127;4123	ENSP00000373884:A4127V	ENSP00000354735:A4123V	A	+	2	0	RYR3	31917853	1.000000	0.71417	0.071000	0.20095	0.022000	0.10575	1.429000	0.34903	0.470000	0.27294	-1.461000	0.01025	GCG		0.483	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	262	0	0	0	1	0	4	262				
KLHL7	55975	broad.mit.edu	37	7	23180386	23180386	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:23180386A>T	ENST00000339077.5	+	5	685		c.e5-1		KLHL7_ENST00000322231.7_Splice_Site|KLHL7_ENST00000479288.1_Splice_Site|KLHL7_ENST00000539124.1_Splice_Site|KLHL7_ENST00000409689.1_Splice_Site|KLHL7_ENST00000545443.1_Splice_Site|KLHL7_ENST00000542558.1_Splice_Site	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7						protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTGTGTTTAGGTATAAGTG	0.318																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e6-1		kelch-like family member 7							59.0	59.0	59.0					7																	23180386		2203	4300	6503	SO:0001630	splice_region_variant	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23180386A>T		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.443-1A>T	7.37:g.23180386A>T			Somatic				KLHL7_ENST00000409689.1_Splice_Site|KLHL7_ENST00000545443.1_Splice_Site|KLHL7_ENST00000542558.1_Splice_Site|KLHL7_ENST00000539124.1_Splice_Site|KLHL7_ENST00000479288.1_Splice_Site|KLHL7_ENST00000339077.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8IXQ5	KLHL7_HUMAN			6	866	+								A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Splice_Site	SNP	ENST00000339077.5	37		CCDS34609.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.334168	0.41297	.	.	ENSG00000122550	ENST00000322231;ENST00000339077;ENST00000539124;ENST00000409689;ENST00000545443	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1304	0.72517	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHL7	23146911	1.000000	0.71417	0.978000	0.43139	0.327000	0.28475	8.606000	0.90888	2.032000	0.59987	0.379000	0.24179	.		0.318	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846	Intron	5	81	0	0	0	1	0	5	81				
FILIP1	27145	broad.mit.edu	37	6	76023145	76023145	+	Silent	SNP	C	C	T	rs148968530		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:76023145C>T	ENST00000237172.7	-	5	2733	c.2403G>A	c.(2401-2403)acG>acA	p.T801T	FILIP1_ENST00000370020.1_Silent_p.T702T|FILIP1_ENST00000393004.2_Silent_p.T801T|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	801										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCCAGTTGACGTCACAGGAA	0.473																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2401-2403)acG>acA		filamin A interacting protein 1		C		1,4405	2.1+/-5.4	0,1,2202	132.0	137.0	135.0		2403	-10.6	0.0	6	dbSNP_134	135	0,8600		0,0,4300	no	coding-synonymous	FILIP1	NM_015687.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		801/1214	76023145	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27145							g.chr6:76023145C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2403G>A	6.37:g.76023145C>T			Somatic				FILIP1_ENST00000370020.1_Silent_p.T702T|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.T801T	p.T801T			WXS	Illumina GAIIx	Phase_I	Q7Z7B0	FLIP1_HUMAN			5	2624	-			801					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	ENST00000237172.7	37	c.2403G>A	CCDS4984.1																																																																																				0.473	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		5	302	0	0	0	1	0	5	302				
HOXC6	3223	broad.mit.edu	37	12	54422672	54422672	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:54422672T>C	ENST00000243108.4	+	1	531	c.367T>C	c.(367-369)Tac>Cac	p.Y123H	HOXC4_ENST00000303406.4_Intron|RP11-834C11.14_ENST00000512206.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC6_ENST00000394331.3_Missense_Mutation_p.Y41H	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	123					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.Y123H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TATCCAGATTTACCCCTGGAT	0.468																																						ENST00000394331.3																			1	Substitution - Missense(1)	p.Y123H(1)	kidney(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(121-123)Tac>Cac		homeobox C6							88.0	94.0	92.0					12																	54422672		2203	4300	6503	SO:0001583	missense	3223				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:54422672T>C		CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"""Homeoboxes / ANTP class : HOXL subclass"""	5128	protein-coding gene	gene with protein product		142972	"""homeo box C6"""	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.367T>C	12.37:g.54422672T>C	ENSP00000243108:p.Tyr123His		Somatic				HOXC4_ENST00000303406.4_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.Y123H|HOXC5_ENST00000512206.1_Intron	p.Y41H	NM_153693.3	NP_710160.1	WXS	Illumina GAIIx	Phase_I	P09630	HXC6_HUMAN			2	1831	+			123					B2RBV2|Q6DK09	Missense_Mutation	SNP	ENST00000243108.4	37	c.121T>C	CCDS8871.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.544368	0.65198	.	.	ENSG00000197757	ENST00000504315;ENST00000509328;ENST00000394331;ENST00000243108	D;D	0.95622	-3.76;-3.76	5.53	5.53	0.82687	Homeobox protein, antennapedia type, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.98982	1.0805	10	0.87932	D	0	.	14.7802	0.69760	0.0:0.0:0.0:1.0	.	123	P09630	HXC6_HUMAN	H	41;41;41;123	ENSP00000377864:Y41H;ENSP00000243108:Y123H	ENSP00000243108:Y123H	Y	+	1	0	HOXC6	52708939	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.441000	0.80485	2.324000	0.78689	0.533000	0.62120	TAC		0.468	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358943.2			48	102	0	0	0	1	0	48	102				
PNMA2	10687	broad.mit.edu	37	8	26366047	26366047	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:26366047G>A	ENST00000522362.2	-	3	1119	c.225C>T	c.(223-225)gtC>gtT	p.V75V	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	75					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gaatggccgagacatcagtat	0.478																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(223-225)gtC>gtT		paraneoplastic Ma antigen 2							74.0	74.0	74.0					8																	26366047		2203	4300	6503	SO:0001819	synonymous_variant	10687				apoptosis	nucleolus	protein binding	g.chr8:26366047G>A		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.225C>T	8.37:g.26366047G>A			Somatic					p.V75V	NM_007257.5	NP_009188.1	WXS	Illumina GAIIx	Phase_I	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1119	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	75					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Silent	SNP	ENST00000522362.2	37	c.225C>T	CCDS34868.1																																																																																				0.478	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		8	134	0	0	0	1	0	8	134				
PPWD1	23398	broad.mit.edu	37	5	64859225	64859225	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:64859225A>T	ENST00000261308.5	+	1	160	c.88A>T	c.(88-90)Aga>Tga	p.R30*	PPWD1_ENST00000535264.1_5'UTR|CENPK_ENST00000396679.1_5'Flank|CENPK_ENST00000510693.1_5'Flank|PPWD1_ENST00000538977.1_5'UTR|CENPK_ENST00000514814.1_5'Flank|CENPK_ENST00000508421.1_5'Flank|CENPK_ENST00000506282.2_5'Flank|CENPK_ENST00000510354.1_5'Flank	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	30					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R30*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		ACTCAGCGAAAGAGAGCTGGC	0.567																																						ENST00000261308.5																			1	Substitution - Nonsense(1)	p.R30*(1)	kidney(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19						c.(88-90)Aga>Tga		peptidylprolyl isomerase domain and WD repeat containing 1							73.0	73.0	73.0					5																	64859225		2203	4300	6503	SO:0001587	stop_gained	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64859225A>T	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.88A>T	5.37:g.64859225A>T	ENSP00000261308:p.Arg30*		Somatic				PPWD1_ENST00000538977.1_5'UTR|PPWD1_ENST00000535264.1_5'UTR	p.R30*	NM_015342.3	NP_056157.1	WXS	Illumina GAIIx	Phase_I	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	1	160	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	30					B4DWR9|Q15002|Q7KZ89	Nonsense_Mutation	SNP	ENST00000261308.5	37	c.88A>T	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.517835	0.64634	.	.	ENSG00000113593	ENST00000261308	.	.	.	4.85	-0.279	0.12890	.	0.290387	0.31821	N	0.007018	.	.	.	.	.	.	0.20489	N	0.999894	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	1.2934	0.02065	0.3925:0.2692:0.2143:0.1241	.	.	.	.	X	30	.	ENSP00000261308:R30X	R	+	1	2	PPWD1	64894981	0.000000	0.05858	0.004000	0.12327	0.106000	0.19336	-0.144000	0.10280	0.074000	0.16767	0.482000	0.46254	AGA		0.567	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		70	98	0	0	0	1	0	70	98				
TACC2	10579	broad.mit.edu	37	10	123842630	123842630	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:123842630C>T	ENST00000369005.1	+	4	955	c.615C>T	c.(613-615)ctC>ctT	p.L205L	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.L205L|TACC2_ENST00000334433.3_Silent_p.L205L|TACC2_ENST00000453444.2_Silent_p.L205L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.L205L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	205					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGTACCCCTCAGAGAGCCAA	0.577																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(613-615)ctC>ctT		transforming, acidic coiled-coil containing protein 2							32.0	31.0	32.0					10																	123842630		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123842630C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.615C>T	10.37:g.123842630C>T			Somatic				TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.L205L|TACC2_ENST00000515273.1_Silent_p.L205L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.L205L|TACC2_ENST00000334433.3_Silent_p.L205L	p.L205L	NM_206862.2	NP_996744.2	WXS	Illumina GAIIx	Phase_I	O95359	TACC2_HUMAN			4	955	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	205					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.615C>T	CCDS7626.1																																																																																				0.577	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			5	33	0	0	0	1	0	5	33				
THRAP3	9967	broad.mit.edu	37	1	36754845	36754845	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:36754845C>T	ENST00000354618.5	+	5	1449	c.1225C>T	c.(1225-1227)Ccc>Tcc	p.P409S	THRAP3_ENST00000469141.2_Missense_Mutation_p.P409S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	409	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGTCAGTCTCCCAAAAGGTA	0.448			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(1225-1227)Ccc>Tcc		thyroid hormone receptor associated protein 3							71.0	73.0	72.0					1																	36754845		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36754845C>T	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1225C>T	1.37:g.36754845C>T	ENSP00000346634:p.Pro409Ser		Somatic				THRAP3_ENST00000469141.2_Missense_Mutation_p.P409S	p.P409S	NM_005119.3	NP_005110.2	WXS	Illumina GAIIx	Phase_I	Q9Y2W1	TR150_HUMAN			5	1449	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	409					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.1225C>T	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413037	0.62511	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.13307	2.6;2.6	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	L	0.59436	1.845	0.51233	D	0.999913	D	0.60575	0.988	P	0.56216	0.794	T	0.00795	-1.1563	10	0.16896	T	0.51	-5.6789	19.3813	0.94536	0.0:1.0:0.0:0.0	.	409	Q9Y2W1	TR150_HUMAN	S	409	ENSP00000346634:P409S;ENSP00000433825:P409S	ENSP00000346634:P409S	P	+	1	0	THRAP3	36527432	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.530000	0.60595	2.824000	0.97209	0.655000	0.94253	CCC		0.448	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		6	221	0	0	0	1	0	6	221				
TICRR	90381	broad.mit.edu	37	15	90125915	90125915	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:90125915A>T	ENST00000268138.7	+	2	759		c.e2-1		RP11-429B14.3_ENST00000560477.1_RNA|RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Splice_Site			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator						cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GTTTTATTTTAGTTGTGGGAA	0.398																																						ENST00000268138.7																			0											c.e2-1		TOPBP1-interacting checkpoint and replication regulator							97.0	93.0	94.0					15																	90125915		1851	4109	5960	SO:0001630	splice_region_variant	90381							g.chr15:90125915A>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.655-1A>T	15.37:g.90125915A>T			Somatic				TICRR_ENST00000560985.1_Splice_Site|RP11-429B14.1_ENST00000559041.1_RNA				WXS	Illumina GAIIx	Phase_I					2	759	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Splice_Site	SNP	ENST00000268138.7	37		CCDS10352.2	.	.	.	.	.	.	.	.	.	.	A	15.14	2.743958	0.49151	.	.	ENSG00000140534	ENST00000268138	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7855	0.78300	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C15orf42	87926919	1.000000	0.71417	0.813000	0.32504	0.536000	0.34869	6.113000	0.71553	2.193000	0.70182	0.402000	0.26972	.		0.398	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	Intron	5	115	0	0	0	1	0	5	115				
RCAN1	1827	broad.mit.edu	37	21	35893901	35893901	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:35893901A>T	ENST00000313806.4	-	3	612	c.482T>A	c.(481-483)cTg>cAg	p.L161Q	RCAN1_ENST00000487990.1_Missense_Mutation_p.L26Q|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000399272.1_Missense_Mutation_p.L80Q|RCAN1_ENST00000481448.1_Missense_Mutation_p.L151Q|RCAN1_ENST00000443408.2_Missense_Mutation_p.L26Q|RCAN1_ENST00000381135.3_Missense_Mutation_p.L151Q|RCAN1_ENST00000492600.1_Missense_Mutation_p.L106Q|RCAN1_ENST00000482533.1_Missense_Mutation_p.L26Q|RCAN1_ENST00000381132.2_Missense_Mutation_p.L106Q	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	161					blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L106Q(1)|p.L161Q(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						AGGGGAGATCAGAAACTGCTT	0.512																																						ENST00000481448.1																			2	Substitution - Missense(2)	p.L106Q(1)|p.L161Q(1)	kidney(2)	breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(451-453)cTg>cAg		regulator of calcineurin 1							81.0	83.0	82.0					21																	35893901		2203	4300	6503	SO:0001583	missense	1827				blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:35893901A>T		CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"""Down syndrome critical region gene 1"""	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.482T>A	21.37:g.35893901A>T	ENSP00000320768:p.Leu161Gln		Somatic				RCAN1_ENST00000313806.4_Missense_Mutation_p.L161Q|RCAN1_ENST00000443408.2_Missense_Mutation_p.L26Q|RCAN1_ENST00000487990.1_Missense_Mutation_p.L26Q|RCAN1_ENST00000482533.1_Missense_Mutation_p.L26Q|RCAN1_ENST00000381135.3_Missense_Mutation_p.L151Q|RCAN1_ENST00000399272.1_Missense_Mutation_p.L80Q|RCAN1_ENST00000381132.2_Missense_Mutation_p.L106Q|RCAN1_ENST00000489903.1_5'UTR	p.L151Q			WXS	Illumina GAIIx	Phase_I	P53805	RCAN1_HUMAN			4	938	-			161					D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Missense_Mutation	SNP	ENST00000313806.4	37	c.452T>A	CCDS13637.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.720107	0.89205	.	.	ENSG00000159200	ENST00000487990;ENST00000313806;ENST00000381132;ENST00000399272;ENST00000481448;ENST00000482533;ENST00000381135;ENST00000443408	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.84000	0.5376	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.97110	1.0;0.997;0.997;0.998	D	0.87042	0.2141	9	0.87932	D	0	-26.6531	15.4681	0.75419	1.0:0.0:0.0:0.0	.	106;161;80;106	B7Z1F0;P53805;P53805-3;Q6FGP2	.;RCAN1_HUMAN;.;.	Q	26;161;106;80;151;26;151;26	.	ENSP00000320768:L161Q	L	-	2	0	RCAN1	34815771	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.924000	0.92827	2.131000	0.65755	0.533000	0.62120	CTG		0.512	RCAN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194142.1			6	23	0	0	0	1	0	6	23				
ABCC6	368	broad.mit.edu	37	16	16284071	16284071	+	Missense_Mutation	SNP	C	C	T	rs140045277		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:16284071C>T	ENST00000205557.7	-	12	1614	c.1585G>A	c.(1585-1587)Ggc>Agc	p.G529S	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	529	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.G529S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	AAGAGGAGGCCGGAGGTCCGC	0.592																																						ENST00000205557.7																			1	Substitution - Missense(1)	p.G529S(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43						c.(1585-1587)Ggc>Agc		ATP-binding cassette, sub-family C (CFTR/MRP), member 6		C	SER/GLY	0,4394		0,0,2197	79.0	81.0	81.0		1585	-1.0	0.9	16	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCC6	NM_001171.5	56	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	529/1504	16284071	1,12993	2197	4300	6497	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16284071C>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1585G>A	16.37:g.16284071C>T	ENSP00000205557:p.Gly529Ser		Somatic				ABCC6_ENST00000574094.1_5'UTR	p.G529S	NM_001171.5	NP_001162.4	WXS	Illumina GAIIx	Phase_I	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	12	1614	-			529			ABC transmembrane type-1 1.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.1585G>A	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025804	0.35701	0.0	1.16E-4	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.89415	-2.51;-2.51	5.07	-0.967	0.10316	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.902840	0.09184	N	0.836987	T	0.79947	0.4534	L	0.28694	0.88	0.09310	N	1	B;B	0.26258	0.145;0.046	B;B	0.20184	0.016;0.028	T	0.63328	-0.6662	10	0.38643	T	0.18	.	7.0971	0.25315	0.0:0.5452:0.1167:0.3381	.	541;529	F5GWQ0;O95255	.;MRP6_HUMAN	S	529;529;541	ENSP00000205557:G529S;ENSP00000405002:G529S	ENSP00000205557:G529S	G	-	1	0	ABCC6	16191572	0.846000	0.29590	0.889000	0.34880	0.687000	0.40016	0.799000	0.27028	-0.492000	0.06687	0.561000	0.74099	GGC		0.592	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			43	45	0	0	0	1	0	43	45				
PREP	5550	broad.mit.edu	37	6	105800954	105800954	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:105800954T>A	ENST00000369110.3	-	7	910		c.e7-2			NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ATCAGATAACTAAAAAAGAAA	0.343																																						ENST00000369110.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.e7-2		prolyl endopeptidase	Oxytocin(DB00107)						79.0	86.0	84.0					6																	105800954		2203	4300	6503	SO:0001630	splice_region_variant	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105800954T>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.718-2A>T	6.37:g.105800954T>A			Somatic						NM_002726.4	NP_002717.3	WXS	Illumina GAIIx	Phase_I	P48147	PPCE_HUMAN			7	910	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)						Q8N6D4	Splice_Site	SNP	ENST00000369110.3	37		CCDS5053.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404919	0.62288	.	.	ENSG00000085377	ENST00000369110	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9901	0.71381	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PREP	105907647	1.000000	0.71417	0.960000	0.40013	0.657000	0.38888	4.794000	0.62482	2.240000	0.73641	0.533000	0.62120	.		0.343	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1		Intron	7	79	0	0	0	1	0	7	79				
DNAJC1	64215	broad.mit.edu	37	10	22048498	22048498	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:22048498G>A	ENST00000376980.3	-	11	1487	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	399					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CCGTTTTGATGGGCCTGGAAT	0.567																																						ENST00000376980.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21						c.(1195-1197)ccC>ccT		DnaJ (Hsp40) homolog, subfamily C, member 1							56.0	50.0	52.0					10																	22048498		2203	4300	6503	SO:0001819	synonymous_variant	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22048498G>A	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1197C>T	10.37:g.22048498G>A			Somatic				DNAJC1_ENST00000483085.1_5'UTR	p.P399P	NM_022365.3	NP_071760.2	WXS	Illumina GAIIx	Phase_I	Q96KC8	DNJC1_HUMAN			11	1487	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	399					B0YIZ8|Q5VX89|Q9H6B8	Silent	SNP	ENST00000376980.3	37	c.1197C>T	CCDS7136.1																																																																																				0.567	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		7	123	0	0	0	1	0	7	123				
RASSF6	166824	broad.mit.edu	37	4	74442420	74442420	+	Silent	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:74442420A>T	ENST00000342081.3	-	9	976	c.846T>A	c.(844-846)atT>atA	p.I282I	RASSF6_ENST00000395777.2_Silent_p.I216I|RASSF6_ENST00000335049.5_Silent_p.I238I|RASSF6_ENST00000307439.5_Silent_p.I250I	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	282	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)			p.I250I(1)|p.I282I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCAGTAGCGGAATGTCTGTCT	0.403																																						ENST00000307439.5																			2	Substitution - coding silent(2)	p.I250I(1)|p.I282I(1)	kidney(2)	breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17						c.(748-750)atT>atA		Ras association (RalGDS/AF-6) domain family member 6							216.0	225.0	222.0					4																	74442420		2203	4300	6503	SO:0001819	synonymous_variant	166824				apoptosis|signal transduction		protein binding	g.chr4:74442420A>T	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.846T>A	4.37:g.74442420A>T			Somatic				RASSF6_ENST00000335049.5_Silent_p.I238I|RASSF6_ENST00000342081.3_Silent_p.I282I|RASSF6_ENST00000395777.2_Silent_p.I216I	p.I250I	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	WXS	Illumina GAIIx	Phase_I	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		9	1044	-	Breast(15;0.00102)		282			Ras-associating.		Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Silent	SNP	ENST00000342081.3	37	c.750T>A	CCDS3558.1																																																																																				0.403	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532		201	260	0	0	0	1	0	201	260				
RAPGEF6	51735	broad.mit.edu	37	5	130897742	130897742	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:130897742T>A	ENST00000509018.1	-	5	487		c.e5-2		CTC-432M15.3_ENST00000514667.1_Splice_Site|RAPGEF6_ENST00000308008.6_Splice_Site|RAPGEF6_ENST00000510071.1_Splice_Site|RAPGEF6_ENST00000307984.5_Splice_Site|RAPGEF6_ENST00000503398.2_Intron|RAPGEF6_ENST00000296859.6_Splice_Site|RAPGEF6_ENST00000507093.1_Splice_Site	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6						positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTACCAAAACTATAAAAACAG	0.284																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.e5-2		Rap guanine nucleotide exchange factor (GEF) 6							97.0	100.0	99.0					5																	130897742		2203	4295	6498	SO:0001630	splice_region_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130897742T>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.282-2A>T	5.37:g.130897742T>A			Somatic				RAPGEF6_ENST00000307984.5_Splice_Site|FNIP1_ENST00000514667.1_Splice_Site|RAPGEF6_ENST00000503398.2_Intron|RAPGEF6_ENST00000308008.6_Splice_Site|RAPGEF6_ENST00000510071.1_Splice_Site|RAPGEF6_ENST00000507093.1_Splice_Site|RAPGEF6_ENST00000296859.6_Splice_Site		NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	WXS	Illumina GAIIx	Phase_I	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	5	487	-								A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Splice_Site	SNP	ENST00000509018.1	37		CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425029	0.83667	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000514667	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9416	0.64059	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAPGEF6;FNIP1	130925641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.925000	0.70062	2.278000	0.76064	0.533000	0.62120	.		0.284	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340	Intron	4	62	0	0	0	1	0	4	62				
DIP2B	57609	broad.mit.edu	37	12	51084867	51084867	+	Silent	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:51084867T>C	ENST00000301180.5	+	13	1621	c.1587T>C	c.(1585-1587)gtT>gtC	p.V529V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	529						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.V529V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TAATGGGAGTTACAGTATCCC	0.408																																						ENST00000301180.5																			1	Substitution - coding silent(1)	p.V529V(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(1585-1587)gtT>gtC		DIP2 disco-interacting protein 2 homolog B (Drosophila)							127.0	110.0	116.0					12																	51084867		2203	4300	6503	SO:0001819	synonymous_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51084867T>C	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1587T>C	12.37:g.51084867T>C			Somatic					p.V529V	NM_173602.2	NP_775873.2	WXS	Illumina GAIIx	Phase_I	Q9P265	DIP2B_HUMAN			13	1621	+			529					Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	c.1587T>C	CCDS31799.1																																																																																				0.408	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		127	133	0	0	0	1	0	127	133				
UBE3B	89910	broad.mit.edu	37	12	109928871	109928871	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:109928871G>A	ENST00000342494.3	+	9	1247	c.652G>A	c.(652-654)Gca>Aca	p.A218T	UBE3B_ENST00000540230.1_3'UTR|UBE3B_ENST00000537063.1_3'UTR|UBE3B_ENST00000434735.2_Missense_Mutation_p.A218T|UBE3B_ENST00000280774.5_Missense_Mutation_p.A218T	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	218					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CCGTGGCCTGGCAAGACCCCG	0.388																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(652-654)Gca>Aca		ubiquitin protein ligase E3B							115.0	106.0	109.0					12																	109928871		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109928871G>A	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.652G>A	12.37:g.109928871G>A	ENSP00000340596:p.Ala218Thr		Somatic				UBE3B_ENST00000537063.1_3'UTR|UBE3B_ENST00000540230.1_3'UTR|UBE3B_ENST00000434735.2_Missense_Mutation_p.A218T|UBE3B_ENST00000280774.5_Missense_Mutation_p.A218T	p.A218T	NM_130466.3	NP_569733.2	WXS	Illumina GAIIx	Phase_I	Q7Z3V4	UBE3B_HUMAN			9	1247	+			218					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.652G>A	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	34	5.394938	0.96009	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.44881	1.23;0.91;1.49;1.23	5.84	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	M	0.68952	2.095	0.80722	D	1	B	0.33883	0.43	B	0.27076	0.076	T	0.47686	-0.9098	10	0.66056	D	0.02	-2.1005	15.4867	0.75573	0.0:0.0:0.8614:0.1386	.	218	Q7Z3V4	UBE3B_HUMAN	T	218	ENSP00000391529:A218T;ENSP00000280774:A218T;ENSP00000443131:A218T;ENSP00000340596:A218T	ENSP00000280774:A218T	A	+	1	0	UBE3B	108413254	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.017000	0.70805	2.775000	0.95449	0.655000	0.94253	GCA		0.388	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		4	126	0	0	0	1	0	4	126				
ZMYND8	23613	broad.mit.edu	37	20	45905190	45905190	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:45905190G>A	ENST00000311275.7	-	11	1541	c.1288C>T	c.(1288-1290)Ccg>Tcg	p.P430S	ZMYND8_ENST00000352431.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P425S|ZMYND8_ENST00000458360.2_Missense_Mutation_p.P425S|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P457S|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P450S|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P367S	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	430					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGGGAGCGCGGCATATCCGAC	0.597																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(1288-1290)Ccg>Tcg		zinc finger, MYND-type containing 8							77.0	66.0	70.0					20																	45905190		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45905190G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1288C>T	20.37:g.45905190G>A	ENSP00000312237:p.Pro430Ser		Somatic				ZMYND8_ENST00000471951.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P425S|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P367S|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P450S|ZMYND8_ENST00000458360.2_Missense_Mutation_p.P425S|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P457S|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000468376.2_5'UTR	p.P430S			WXS	Illumina GAIIx	Phase_I	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		11	1541	-			430					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.1288C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.54|16.54	3.151142|3.151142	0.57151|0.57151	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.96459	.|-3.03;-2.85;-2.93;-2.97;-2.91;-2.94;-3.0;-2.91;-2.88;-4.02;-3.0;-3.04;-1.76	5.51|5.51	4.55|4.55	0.56014|0.56014	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97294|0.97294	0.9115|0.9115	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999995|0.999995	.|D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D	.|0.89917	.|0.998;0.909;1.0;1.0;1.0;1.0;0.997;1.0;0.997;0.995;1.0;1.0;1.0;1.0;1.0;0.767;0.998;0.998	.|D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;B;D;D	.|0.97110	.|0.984;0.863;1.0;1.0;1.0;1.0;0.98;0.999;0.973;0.98;0.999;1.0;1.0;1.0;1.0;0.359;0.984;0.994	D|D	0.96629|0.96629	0.9465|0.9465	5|10	.|0.33940	.|T	.|0.23	-16.235|-16.235	15.6606|15.6606	0.77186|0.77186	0.0:0.0:0.8617:0.1383|0.0:0.0:0.8617:0.1383	.|.	.|425;457;425;425;405;424;450;430;425;450;450;430;367;425;425;450;425;430	.|B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	V|S	356|425;430;425;430;450;450;430;457;430;367;450;425;425	.|ENSP00000354166:P425S;ENSP00000312237:P430S;ENSP00000392964:P425S;ENSP00000262975:P430S;ENSP00000420095:P450S;ENSP00000335537:P450S;ENSP00000379577:P430S;ENSP00000439800:P457S;ENSP00000348246:P430S;ENSP00000396725:P367S;ENSP00000418210:P450S;ENSP00000361093:P425S;ENSP00000443086:P425S	.|ENSP00000262975:P430S	A|P	-|-	2|1	0|0	ZMYND8|ZMYND8	45338597|45338597	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.328000|0.328000	0.28507|0.28507	9.338000|9.338000	0.96553|0.96553	1.305000|1.305000	0.44909|0.44909	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.597	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		4	282	0	0	0	1	0	4	282				
HIST1H2BD	3017	broad.mit.edu	37	6	26158562	26158562	+	Silent	SNP	C	C	T	rs141600148	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:26158562C>T	ENST00000289316.2	+	1	189	c.165C>T	c.(163-165)atC>atT	p.I55I	HIST1H2BD_ENST00000377777.4_Silent_p.I55I	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	55					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ACACCGGCATCTCTTCCAAGG	0.562																																						ENST00000289316.2																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						c.(163-165)atC>atT		histone cluster 1, H2bd		C	,	0,4406		0,0,2203	200.0	185.0	190.0		165,165	5.2	1.0	6	dbSNP_134	190	3,8597		0,3,4297	no	coding-synonymous,coding-synonymous	HIST1H2BD	NM_021063.3,NM_138720.2	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	55/127,55/127	26158562	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158562C>T	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.165C>T	6.37:g.26158562C>T			Somatic				HIST1H2BD_ENST00000377777.4_Silent_p.I55I	p.I55I	NM_138720.2	NP_619790.1	WXS	Illumina GAIIx	Phase_I	P58876	H2B1D_HUMAN			1	189	+			55						Silent	SNP	ENST00000289316.2	37	c.165C>T	CCDS4587.1																																																																																				0.562	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		36	675	0	0	0	1	0	36	675				
CXADR	1525	broad.mit.edu	37	21	18937925	18937925	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:18937925C>T	ENST00000284878.7	+	7	1761	c.1013C>T	c.(1012-1014)gCt>gTt	p.A338V	CXADR_ENST00000306618.10_Missense_Mutation_p.A297V|CXADR_ENST00000400166.1_Silent_p.L251L|CXADR_ENST00000400165.1_Silent_p.L199L|CXADR_ENST00000400169.1_Missense_Mutation_p.A338V	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	338					actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		CTCCCACCTGCTAAGGTAGCT	0.473																																						ENST00000284878.7																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11						c.(1012-1014)gCt>gTt		coxsackie virus and adenovirus receptor							61.0	58.0	59.0					21																	18937925		2203	4299	6502	SO:0001583	missense	1525				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity	g.chr21:18937925C>T	Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.1013C>T	21.37:g.18937925C>T	ENSP00000284878:p.Ala338Val		Somatic				CXADR_ENST00000400166.1_Silent_p.L251L|CXADR_ENST00000400169.1_Missense_Mutation_p.A338V|CXADR_ENST00000400165.1_Silent_p.L199L|CXADR_ENST00000306618.10_Missense_Mutation_p.A297V	p.A338V	NM_001338.4	NP_001329.1	WXS	Illumina GAIIx	Phase_I	P78310	CXAR_HUMAN		Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)	7	1761	+			338					B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Missense_Mutation	SNP	ENST00000284878.7	37	c.1013C>T	CCDS33519.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505878	0.44558	.	.	ENSG00000154639	ENST00000284878;ENST00000400169;ENST00000306618	T;T;D	0.86694	-0.99;-1.05;-2.16	5.3	4.35	0.52113	.	0.231983	0.45126	D	0.000389	T	0.78691	0.4323	.	.	.	0.09310	N	1	B;B	0.34181	0.265;0.44	B;B	0.30029	0.079;0.11	T	0.69339	-0.5171	9	0.30078	T	0.28	.	14.1654	0.65473	0.1501:0.8499:0.0:0.0	.	338;338	B7WPI3;P78310	.;CXAR_HUMAN	V	338;338;297	ENSP00000284878:A338V;ENSP00000383033:A338V;ENSP00000303395:A297V	ENSP00000284878:A338V	A	+	2	0	CXADR	17859796	0.598000	0.26882	0.072000	0.20136	0.960000	0.62799	5.032000	0.64140	2.644000	0.89710	0.561000	0.74099	GCT		0.473	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1			7	291	0	0	0	1	0	7	291				
KBTBD7	84078	broad.mit.edu	37	13	41767064	41767064	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:41767064C>T	ENST00000379483.3	-	1	1638	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	444										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GTAATAGGGTCTCGTCCCCCC	0.483																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1330-1332)Gac>Aac		kelch repeat and BTB (POZ) domain containing 7							124.0	113.0	117.0					13																	41767064		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41767064C>T	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1330G>A	13.37:g.41767064C>T	ENSP00000368797:p.Asp444Asn		Somatic					p.D444N	NM_032138.4	NP_115514.2	WXS	Illumina GAIIx	Phase_I	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1638	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	444					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.1330G>A	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	6.537	0.467408	0.12402	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.78364	-1.17	5.37	3.63	0.41609	Kelch-type beta propeller (1);	0.124247	0.52532	D	0.000062	T	0.65365	0.2684	L	0.28608	0.87	0.42774	D	0.993847	B	0.25048	0.117	B	0.25884	0.064	T	0.63976	-0.6515	10	0.52906	T	0.07	.	9.4005	0.38428	0.0:0.8258:0.0:0.1742	.	444	Q8WVZ9	KBTB7_HUMAN	N	444;346	ENSP00000368797:D444N	ENSP00000368797:D444N	D	-	1	0	KBTBD7	40665064	0.997000	0.39634	1.000000	0.80357	0.523000	0.34469	1.810000	0.38932	1.252000	0.44001	0.557000	0.71058	GAC		0.483	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		62	85	0	0	0	1	0	62	85				
SYNE1	23345	broad.mit.edu	37	6	152557951	152557951	+	Splice_Site	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:152557951C>T	ENST00000367255.5	-	109	20801		c.e109+1		SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTAACACCAACCTGGTAGAGT	0.438										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.e109+1		spectrin repeat containing, nuclear envelope 1							123.0	99.0	107.0					6																	152557951		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152557951C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20199+1G>A	6.37:g.152557951C>T		HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site		NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	109	20801	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37		CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983233	0.74474	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5579	0.95358	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYNE1	152599644	1.000000	0.71417	0.999000	0.59377	0.608000	0.37181	5.771000	0.68881	2.624000	0.88883	0.655000	0.94253	.		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	27	55	0	0	0	1	0	27	55				
SMAD9	4093	broad.mit.edu	37	13	37453538	37453538	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:37453538G>A	ENST00000399275.2	-	1	428	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	SMAD9_ENST00000350148.5_Missense_Mutation_p.R97C|SMAD9_ENST00000483941.1_5'Flank|SMAD9_ENST00000379826.4_Missense_Mutation_p.R97C			O15198	SMAD9_HUMAN	SMAD family member 9	97	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)	p.R97C(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TCCGGCCAGCGCCACACGCGA	0.612																																						ENST00000379826.4																			2	Substitution - Missense(2)	p.R97C(2)	kidney(2)	NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18						c.(289-291)Cgc>Tgc		SMAD family member 9							33.0	36.0	35.0					13																	37453538		2203	4300	6503	SO:0001583	missense	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37453538G>A		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.289C>T	13.37:g.37453538G>A	ENSP00000382216:p.Arg97Cys		Somatic				SMAD9_ENST00000350148.5_Missense_Mutation_p.R97C|SMAD9_ENST00000399275.2_Missense_Mutation_p.R97C	p.R97C	NM_001127217.2	NP_001120689.1	WXS	Illumina GAIIx	Phase_I	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	2	631	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	97			MH1.		A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	c.289C>T	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615679	0.66672	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	T;T;T	0.80738	-1.41;-1.41;-1.41	5.53	5.53	0.82687	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.91778	0.7399	H	0.95539	3.685	0.80722	D	1	D;D	0.71674	0.998;0.997	P;D	0.64877	0.801;0.93	D	0.93621	0.6948	10	0.87932	D	0	.	13.4247	0.61018	0.0:0.0:0.8432:0.1568	.	97;97	O15198-2;O15198	.;SMAD9_HUMAN	C	97	ENSP00000382216:R97C;ENSP00000239885:R97C;ENSP00000369154:R97C	ENSP00000239885:R97C	R	-	1	0	SMAD9	36351538	1.000000	0.71417	1.000000	0.80357	0.259000	0.26198	6.460000	0.73518	2.599000	0.87857	0.563000	0.77884	CGC		0.612	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		22	26	0	0	0	1	0	22	26				
SNHG14	104472715	broad.mit.edu	37	15	25453255	25453255	+	RNA	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:25453255T>G	ENST00000424208.1	+	0	2384				SNORD115-20_ENST00000365099.1_RNA|SNORD115-22_ENST00000364456.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-21_ENST00000362963.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACCTTATATTTTCTGAAGAGA	0.527																																						ENST00000424208.1																			0																				348.0	359.0	356.0					15																	25453255		876	1991	2867			104472715							g.chr15:25453255T>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25453255T>G			Somatic				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-21_ENST00000362963.1_RNA		NR_003305.1		WXS	Illumina GAIIx	Phase_I					0	2384	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.527	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			3	153	0	0	0	1	0	3	153				
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000432451.2_Splice_Site			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C							extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGGTTAAAACTAAATAACCAA	0.303																																						ENST00000397452.1																			0											c.e8-2		BPI fold containing family C							62.0	60.0	61.0					22																	32833840		2203	4300	6503	SO:0001630	splice_region_variant	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32833840T>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.656-2A>T	22.37:g.32833840T>A			Somatic				BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8NFQ6	BPIL2_HUMAN			8	766	-								A2RRF1	Splice_Site	SNP	ENST00000397452.1	37		CCDS13906.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868262	0.72065	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000432451	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5975	0.56478	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BPIFC	31163840	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.171000	0.58236	2.289000	0.77006	0.533000	0.62120	.		0.303	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	Intron	4	77	0	0	0	1	0	4	77				
S100A14	57402	broad.mit.edu	37	1	153587436	153587436	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:153587436C>A	ENST00000368702.1	-	5	512	c.240G>T	c.(238-240)gaG>gaT	p.E80D	S100A14_ENST00000368700.3_5'UTR|S100A16_ENST00000474991.1_5'Flank|S100A14_ENST00000476873.1_Missense_Mutation_p.E80D|S100A14_ENST00000368701.1_Missense_Mutation_p.E80D|S100A14_ENST00000344616.2_Missense_Mutation_p.E80D|S100A16_ENST00000368706.4_5'Flank			Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14	80					apoptotic process (GO:0006915)|calcium ion homeostasis (GO:0055074)|defense response to bacterium (GO:0042742)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)	extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|chemokine receptor binding (GO:0042379)	p.E80D(1)		kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACTCCTGAACTCCAGTTTAG	0.557																																						ENST00000368702.1																			1	Substitution - Missense(1)	p.E80D(1)	kidney(1)	kidney(2)|large_intestine(1)|lung(1)	4						c.(238-240)gaG>gaT		S100 calcium binding protein A14							76.0	76.0	76.0					1																	153587436		2203	4300	6503	SO:0001583	missense	57402				calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding	g.chr1:153587436C>A	AY007220	CCDS1046.1	1q21.1	2008-02-05			ENSG00000189334	ENSG00000189334		"""S100 calcium binding proteins"""	18901	protein-coding gene	gene with protein product		607986				11944983	Standard	NM_020672		Approved	S100A15, BCMP84	uc001fce.3	Q9HCY8	OTTHUMG00000035030	ENST00000368702.1:c.240G>T	1.37:g.153587436C>A	ENSP00000357691:p.Glu80Asp		Somatic				S100A14_ENST00000368700.3_5'UTR|S100A14_ENST00000344616.2_Missense_Mutation_p.E80D|S100A14_ENST00000476873.1_Missense_Mutation_p.E80D|S100A14_ENST00000368701.1_Missense_Mutation_p.E80D	p.E80D			WXS	Illumina GAIIx	Phase_I	Q9HCY8	S10AE_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	512	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		80					Q5RHT0	Missense_Mutation	SNP	ENST00000368702.1	37	c.240G>T	CCDS1046.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217975	0.58560	.	.	ENSG00000189334	ENST00000476873;ENST00000368701;ENST00000368702;ENST00000344616	T;T;T;T	0.04083	3.71;3.71;3.71;3.71	4.86	2.99	0.34606	EF-hand-like domain (1);	0.066166	0.64402	D	0.000004	T	0.02888	0.0086	L	0.44542	1.39	0.27397	N	0.954976	D	0.58970	0.984	D	0.65443	0.935	T	0.09862	-1.0655	10	0.02654	T	1	-29.9666	7.2222	0.25994	0.0:0.7978:0.0:0.2022	.	80	Q9HCY8	S10AE_HUMAN	D	80	ENSP00000420296:E80D;ENSP00000357690:E80D;ENSP00000357691:E80D;ENSP00000340463:E80D	ENSP00000340463:E80D	E	-	3	2	S100A14	151854060	1.000000	0.71417	0.995000	0.50966	0.510000	0.34073	0.386000	0.20702	0.640000	0.30582	-0.192000	0.12808	GAG		0.557	S100A14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084788.2	NM_020672		10	18	1	0	6.40141e-05	1	6.60145e-05	10	18				
OR4K5	79317	broad.mit.edu	37	14	20388869	20388869	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:20388869A>T	ENST00000315915.4	+	1	129	c.104A>T	c.(103-105)tAt>tTt	p.Y35F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGTGTTGTATACAGTCATT	0.403																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(103-105)tAt>tTt		olfactory receptor, family 4, subfamily K, member 5							193.0	201.0	198.0					14																	20388869		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20388869A>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.104A>T	14.37:g.20388869A>T	ENSP00000319511:p.Tyr35Phe		Somatic					p.Y35F	NM_001005483.1	NP_001005483.1	WXS	Illumina GAIIx	Phase_I	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	129	+	all_cancers(95;0.00108)		35					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.104A>T	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	10.48	1.361696	0.24684	.	.	ENSG00000176281	ENST00000315915	T	0.04406	3.63	4.41	4.41	0.53225	.	0.000000	0.45867	D	0.000337	T	0.10423	0.0255	M	0.77103	2.36	0.31688	N	0.642233	P	0.37423	0.594	B	0.40285	0.325	T	0.02059	-1.1221	10	0.66056	D	0.02	.	11.614	0.51078	1.0:0.0:0.0:0.0	.	35	Q8NGD3	OR4K5_HUMAN	F	35	ENSP00000319511:Y35F	ENSP00000319511:Y35F	Y	+	2	0	OR4K5	19458709	0.996000	0.38824	0.119000	0.21687	0.287000	0.27160	3.354000	0.52254	1.838000	0.53458	0.533000	0.62120	TAT		0.403	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		9	263	0	0	0	1	0	9	263				
TET2	54790	broad.mit.edu	37	4	106156759	106156759	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:106156759C>T	ENST00000540549.1	+	3	2520	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	TET2_ENST00000513237.1_Missense_Mutation_p.P575S|TET2_ENST00000413648.2_Missense_Mutation_p.P554S|TET2_ENST00000545826.1_Missense_Mutation_p.P554S|TET2_ENST00000380013.4_Missense_Mutation_p.P554S|TET2_ENST00000305737.2_Missense_Mutation_p.P554S|TET2_ENST00000394764.1_Missense_Mutation_p.P554S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	554					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGATCTTGTGCCCCCAACACA	0.488			"""Mis N, F"""		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(1723-1725)Ccc>Tcc		tet methylcytosine dioxygenase 2							92.0	93.0	93.0					4																	106156759		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106156759C>T	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1660C>T	4.37:g.106156759C>T	ENSP00000442788:p.Pro554Ser		Somatic				TET2_ENST00000540549.1_Missense_Mutation_p.P554S|TET2_ENST00000413648.2_Missense_Mutation_p.P554S|TET2_ENST00000305737.2_Missense_Mutation_p.P554S|TET2_ENST00000394764.1_Missense_Mutation_p.P554S|TET2_ENST00000545826.1_Missense_Mutation_p.P554S|TET2_ENST00000380013.4_Missense_Mutation_p.P554S	p.P575S			WXS	Illumina GAIIx	Phase_I	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2520	+		Myeloproliferative disorder(5;0.0393)	554					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.1723C>T	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	5.689	0.311728	0.10789	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15;2.15	5.59	4.75	0.60458	.	2.776670	0.02142	N	0.057237	T	0.17195	0.0413	N	0.14661	0.345	0.09310	N	1	B;B;B	0.34015	0.201;0.201;0.435	B;B;B	0.33620	0.023;0.023;0.167	T	0.36114	-0.9761	10	0.19147	T	0.46	.	12.7726	0.57429	0.0:0.9244:0.0:0.0756	.	575;554;554	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	S	554;554;554;575;554;554;554;554	ENSP00000306705:P554S;ENSP00000442788:P554S;ENSP00000442867:P554S;ENSP00000425443:P575S;ENSP00000369351:P554S;ENSP00000378245:P554S;ENSP00000391448:P554S	ENSP00000265149:P554S	P	+	1	0	TET2	106376208	0.002000	0.14202	0.006000	0.13384	0.025000	0.11179	1.519000	0.35888	1.368000	0.46115	0.650000	0.86243	CCC		0.488	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		4	234	0	0	0	1	0	4	234				
IPO4	79711	broad.mit.edu	37	14	24651164	24651164	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:24651164T>G	ENST00000354464.6	-	26	2980	c.2804A>C	c.(2803-2805)cAg>cCg	p.Q935P	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	935					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)		p.Q935P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AGGATACTCCTGGGCAGGGTG	0.652																																						ENST00000354464.6																			1	Substitution - Missense(1)	p.Q935P(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(2803-2805)cAg>cCg		importin 4							32.0	39.0	37.0					14																	24651164		2070	4195	6265	SO:0001583	missense	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24651164T>G	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2804A>C	14.37:g.24651164T>G	ENSP00000346453:p.Gln935Pro		Somatic				RP11-468E2.2_ENST00000561419.1_3'UTR	p.Q935P	NM_024658.3	NP_078934.3	WXS	Illumina GAIIx	Phase_I	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	26	2980	-			935					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.2804A>C	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.014233	0.54468	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.31510	1.49	5.84	4.65	0.58169	Armadillo-like helical (1);Armadillo-type fold (1);	0.568343	0.18758	N	0.131981	T	0.23532	0.0569	L	0.34521	1.04	0.35629	D	0.810054	B;B	0.24651	0.034;0.108	B;B	0.25759	0.063;0.061	T	0.20174	-1.0283	10	0.36615	T	0.2	.	10.3049	0.43674	0.1462:0.0:0.0:0.8538	.	935;935	Q8TEX9;Q8TEX9-2	IPO4_HUMAN;.	P	935;611	ENSP00000346453:Q935P	ENSP00000346453:Q935P	Q	-	2	0	IPO4	23721004	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.855000	0.39378	2.234000	0.73211	0.460000	0.39030	CAG		0.652	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		26	12	0	0	0	1	0	26	12				
HIVEP1	3096	broad.mit.edu	37	6	12122448	12122448	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:12122448C>T	ENST00000379388.2	+	4	2752	c.2420C>T	c.(2419-2421)tCt>tTt	p.S807F		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	807					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGTTCAAGCTCTGATATACCG	0.388																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(2419-2421)tCt>tTt		human immunodeficiency virus type I enhancer binding protein 1							136.0	127.0	130.0					6																	12122448		1897	4111	6008	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12122448C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2420C>T	6.37:g.12122448C>T	ENSP00000368698:p.Ser807Phe		Somatic					p.S807F	NM_002114.2	NP_002105.2	WXS	Illumina GAIIx	Phase_I	P15822	ZEP1_HUMAN			4	2752	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	807					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.2420C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045788	0.75846	.	.	ENSG00000095951	ENST00000379388	T	0.12039	2.72	6.01	6.01	0.97437	.	0.000000	0.35772	N	0.002997	T	0.36054	0.0953	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03695	-1.1012	9	.	.	.	-22.8109	20.5211	0.99222	0.0:1.0:0.0:0.0	.	807	P15822	ZEP1_HUMAN	F	807	ENSP00000368698:S807F	.	S	+	2	0	HIVEP1	12230434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.920000	0.70017	2.861000	0.98227	0.650000	0.86243	TCT		0.388	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		14	222	0	0	0	1	0	14	222				
SMYD3	64754	broad.mit.edu	37	1	246498745	246498745	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:246498745C>T	ENST00000388985.4	-	3	259	c.260G>A	c.(259-261)tGc>tAc	p.C87Y	SMYD3_ENST00000541742.1_Missense_Mutation_p.C28Y|SMYD3_ENST00000490107.1_Missense_Mutation_p.C28Y|SMYD3_ENST00000403792.3_Missense_Mutation_p.C87Y			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	87	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		AAGGCATTTGCATTCCCGCTT	0.388																																						ENST00000490107.1																			0				breast(3)|large_intestine(5)|lung(8)|skin(1)	17						c.(82-84)tGc>tAc		SET and MYND domain containing 3							159.0	160.0	159.0					1																	246498745		2203	4300	6503	SO:0001583	missense	64754					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:246498745C>T	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.260G>A	1.37:g.246498745C>T	ENSP00000373637:p.Cys87Tyr		Somatic				SMYD3_ENST00000388985.4_Missense_Mutation_p.C87Y|SMYD3_ENST00000403792.3_Missense_Mutation_p.C87Y|SMYD3_ENST00000541742.1_Missense_Mutation_p.C28Y	p.C28Y	NM_001167740.1	NP_001161212.1	WXS	Illumina GAIIx	Phase_I	Q9H7B4	SMYD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)	3	299	-	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	87					A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Missense_Mutation	SNP	ENST00000388985.4	37	c.83G>A	CCDS53486.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.875966	0.72180	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000388985;ENST00000453676;ENST00000403792;ENST00000455277	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	5.41	5.41	0.78517	SET domain (2);Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	H	0.98577	4.27	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75470	-0.3306	10	0.87932	D	0	-24.2332	18.557	0.91089	0.0:1.0:0.0:0.0	.	87	Q9H7B4	SMYD3_HUMAN	Y	28;28;87;28;87;28	ENSP00000444184:C28Y;ENSP00000419184:C28Y;ENSP00000373637:C87Y;ENSP00000408122:C28Y;ENSP00000385380:C87Y	ENSP00000373637:C87Y	C	-	2	0	SMYD3	244565368	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	5.566000	0.67372	2.704000	0.92352	0.655000	0.94253	TGC		0.388	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743		16	161	0	0	0	1	0	16	161				
NOBOX	135935	broad.mit.edu	37	7	144098145	144098145	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:144098145G>C	ENST00000467773.1	-	4	837	c.838C>G	c.(838-840)Cgc>Ggc	p.R280G	NOBOX_ENST00000483238.1_Missense_Mutation_p.R280G|NOBOX_ENST00000223140.5_Missense_Mutation_p.R195G	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	280					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R280G(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TTACCTGAGCGGTATAGGGTT	0.542																																						ENST00000467773.1																			2	Substitution - Missense(2)	p.R280G(2)	kidney(2)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(838-840)Cgc>Ggc		NOBOX oogenesis homeobox							76.0	72.0	73.0					7																	144098145		1844	4092	5936	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098145G>C			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.838C>G	7.37:g.144098145G>C	ENSP00000419457:p.Arg280Gly		Somatic				NOBOX_ENST00000223140.5_Missense_Mutation_p.R195G|NOBOX_ENST00000483238.1_Missense_Mutation_p.R280G	p.R280G	NM_001080413.3	NP_001073882.3	WXS	Illumina GAIIx	Phase_I	O60393	NOBOX_HUMAN			4	837	-	Melanoma(164;0.14)		280					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.838C>G		.	.	.	.	.	.	.	.	.	.	G	19.11	3.762985	0.69763	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.95518	-3.73;-3.73;-3.73	5.15	5.15	0.70609	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.135341	0.49305	D	0.000145	D	0.94739	0.8302	N	0.14661	0.345	0.36463	D	0.866787	D	0.76494	0.999	D	0.77557	0.99	D	0.96285	0.9209	10	0.62326	D	0.03	-31.9255	13.9985	0.64419	0.0:0.0:1.0:0.0	.	280	O60393	NOBOX_HUMAN	G	280;280;195;69	ENSP00000419565:R280G;ENSP00000419457:R280G;ENSP00000223140:R195G	ENSP00000223140:R195G	R	-	1	0	NOBOX	143729078	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.884000	0.48562	2.671000	0.90904	0.650000	0.86243	CGC		0.542	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		12	24	0	0	0	1	0	12	24				
MAST4	375449	broad.mit.edu	37	5	66398378	66398378	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:66398378C>T	ENST00000403625.2	+	9	1380	c.1085C>T	c.(1084-1086)cCc>cTc	p.P362L	MAST4_ENST00000404260.3_Missense_Mutation_p.P365L|MAST4_ENST00000490016.2_Missense_Mutation_p.P173L|MAST4_ENST00000261569.7_Missense_Mutation_p.P168L|MAST4_ENST00000405643.1_Missense_Mutation_p.P183L|MAST4_ENST00000403666.1_Missense_Mutation_p.P173L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	365						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGACGTTCTCCCGCCTGCTGT	0.378																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(1093-1095)cCc>cTc		microtubule associated serine/threonine kinase family member 4							129.0	124.0	126.0					5																	66398378		1871	4105	5976	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66398378C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.1085C>T	5.37:g.66398378C>T	ENSP00000385727:p.Pro362Leu		Somatic				MAST4_ENST00000261569.7_Missense_Mutation_p.P168L|MAST4_ENST00000403625.2_Missense_Mutation_p.P362L|MAST4_ENST00000490016.2_Missense_Mutation_p.P173L|MAST4_ENST00000403666.1_Missense_Mutation_p.P173L|MAST4_ENST00000405643.1_Missense_Mutation_p.P183L	p.P365L			WXS	Illumina GAIIx	Phase_I	O15021	MAST4_HUMAN		Lung(70;0.011)	9	1402	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	365					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.1094C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953907	0.92660	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000490016;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	5.82	4.93	0.64822	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.089231	0.45361	U	0.000366	T	0.59432	0.2193	M	0.82630	2.6	0.48632	D	0.999682	D;P;P;B;D	0.89917	1.0;0.872;0.732;0.364;0.992	D;P;P;B;D	0.79108	0.992;0.593;0.458;0.257;0.938	T	0.66048	-0.6020	10	0.59425	D	0.04	-12.7609	16.0332	0.80597	0.1354:0.8646:0.0:0.0	.	183;365;168;173;173	E7EWQ5;O15021;O15021-2;O15021-3;D6RAK1	.;MAST4_HUMAN;.;.;.	L	365;362;173;173;183;183;168;168	ENSP00000385048:P365L;ENSP00000385727:P362L;ENSP00000421739:P173L;ENSP00000384313:P173L;ENSP00000384099:P183L;ENSP00000261569:P168L	ENSP00000261569:P168L	P	+	2	0	MAST4	66434134	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.087000	0.71362	1.407000	0.46875	0.655000	0.94253	CCC		0.378	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			5	211	0	0	0	1	0	5	211				
STYK1	55359	broad.mit.edu	37	12	10786630	10786630	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:10786630A>C	ENST00000075503.3	-	4	666	c.146T>G	c.(145-147)aTc>aGc	p.I49S		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TTGTTCTCTGATAAAAAGCCA	0.453										HNSCC(73;0.22)																												ENST00000075503.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						c.(145-147)aTc>aGc		serine/threonine/tyrosine kinase 1							204.0	203.0	203.0					12																	10786630		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10786630A>C	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.146T>G	12.37:g.10786630A>C	ENSP00000075503:p.Ile49Ser	HNSCC(73;0.22)	Somatic					p.I49S	NM_018423.2	NP_060893.2	WXS	Illumina GAIIx	Phase_I	Q6J9G0	STYK1_HUMAN			4	666	-			49					B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.146T>G	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.564064	0.45694	.	.	ENSG00000060140	ENST00000075503;ENST00000542562;ENST00000538867;ENST00000535345	T;T;T	0.78924	-1.22;0.77;0.76	5.64	5.64	0.86602	.	0.226336	0.38959	N	0.001509	T	0.71702	0.3371	L	0.60455	1.87	0.31768	N	0.632429	B	0.18166	0.026	B	0.18263	0.021	T	0.69982	-0.4997	10	0.26408	T	0.33	-20.1196	9.9374	0.41559	0.8292:0.1708:0.0:0.0	.	49	Q6J9G0	STYK1_HUMAN	S	49	ENSP00000075503:I49S;ENSP00000446241:I49S;ENSP00000445391:I49S	ENSP00000075503:I49S	I	-	2	0	STYK1	10677897	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.090000	0.41682	2.145000	0.66743	0.459000	0.35465	ATC		0.453	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		10	1334	0	0	0	1	0	10	1334				
HINFP	25988	broad.mit.edu	37	11	119001499	119001499	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:119001499C>T	ENST00000350777.2	+	3	309	c.246C>T	c.(244-246)ctC>ctT	p.L82L	HINFP_ENST00000527410.1_Silent_p.L82L|HINFP_ENST00000527354.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	82					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGCTGACCTCATCCGCCATG	0.527																																						ENST00000350777.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(244-246)ctC>ctT		histone H4 transcription factor							129.0	118.0	122.0					11																	119001499		2200	4295	6495	SO:0001819	synonymous_variant	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119001499C>T	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.246C>T	11.37:g.119001499C>T			Somatic				HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Silent_p.L82L	p.L82L	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	WXS	Illumina GAIIx	Phase_I	Q9BQA5	HINFP_HUMAN			3	309	+			82					B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Silent	SNP	ENST00000350777.2	37	c.246C>T	CCDS8414.1																																																																																				0.527	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		10	247	0	0	0	1	0	10	247				
MPPED1	758	broad.mit.edu	37	22	43870629	43870629	+	Silent	SNP	C	C	T	rs532827143	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:43870629C>T	ENST00000417669.2	+	4	864	c.420C>T	c.(418-420)taC>taT	p.Y140Y	MPPED1_ENST00000542779.1_Silent_p.Y140Y|MPPED1_ENST00000443721.1_Silent_p.Y140Y|MPPED1_ENST00000538182.1_Silent_p.Y173Y|MPPED1_ENST00000439548.1_5'UTR|MPPED1_ENST00000414469.2_Silent_p.Y34Y			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	140							hydrolase activity (GO:0016787)	p.Y140*(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCCTGCCCTACGAGTACAAGA	0.582													C|||	5	0.000998403	0.0	0.0	5008	,	,		22219	0.001		0.0	False		,,,				2504	0.0041					ENST00000417669.1																			1	Substitution - Nonsense(1)	p.Y140*(1)	lung(1)	endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13						c.(418-420)taC>taT		metallophosphoesterase domain containing 1							98.0	100.0	100.0					22																	43870629		2116	4250	6366	SO:0001819	synonymous_variant	758						hydrolase activity	g.chr22:43870629C>T	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.420C>T	22.37:g.43870629C>T			Somatic				MPPED1_ENST00000439548.1_5'UTR|MPPED1_ENST00000542779.1_Silent_p.Y140Y|MPPED1_ENST00000538182.1_Silent_p.Y173Y|MPPED1_ENST00000443721.1_Silent_p.Y140Y|MPPED1_ENST00000414469.2_Silent_p.Y34Y	p.Y140Y			WXS	Illumina GAIIx	Phase_I	O15442	MPPD1_HUMAN			4	864	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	140					A8K159|B7Z2S9|Q8N361	Silent	SNP	ENST00000417669.2	37	c.420C>T	CCDS46723.1																																																																																				0.582	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		5	248	0	0	0	1	0	5	248				
NPL	80896	broad.mit.edu	37	1	182794914	182794914	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:182794914A>T	ENST00000367553.1	+	11	782		c.e11-1		NPL_ENST00000463899.1_Splice_Site|NPL_ENST00000367555.1_Splice_Site|NPL_ENST00000258317.2_Splice_Site|NPL_ENST00000367552.2_Splice_Site|NPL_ENST00000367554.3_Splice_Site	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)						carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						GTTCTTTTCTAGTTTTGTATC	0.338																																						ENST00000367554.3																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						c.e10-1		N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)							132.0	142.0	138.0					1																	182794914		2203	4300	6503	SO:0001630	splice_region_variant	80896				carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity	g.chr1:182794914A>T	AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 1 (E. coli)"""	611412	"""chromosome 1 open reading frame 13"""	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.739-1A>T	1.37:g.182794914A>T			Somatic				NPL_ENST00000367555.1_Splice_Site|NPL_ENST00000367552.2_Splice_Site|NPL_ENST00000258317.2_Splice_Site|NPL_ENST00000367553.1_Splice_Site|NPL_ENST00000463899.1_Splice_Site		NM_001200050.1	NP_001186979.1	WXS	Illumina GAIIx	Phase_I	Q9BXD5	NPL_HUMAN			10	999	+								B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Splice_Site	SNP	ENST00000367553.1	37		CCDS1350.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.719870	0.68844	.	.	ENSG00000135838	ENST00000367555;ENST00000445965;ENST00000367554;ENST00000367553;ENST00000367552;ENST00000258317	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0794	0.64912	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPL	181061537	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	5.342000	0.65970	2.148000	0.66965	0.460000	0.39030	.		0.338	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769	Intron	10	213	0	0	0	1	0	10	213				
RGS2	5997	broad.mit.edu	37	1	192779366	192779366	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:192779366G>A	ENST00000235382.5	+	2	212	c.181G>A	c.(181-183)Ggc>Agc	p.G61S	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	61	Necessary for membrane association.				brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						GCCCAAAACCGGCAAAAAAAG	0.363																																					Pancreas(71;51 2183 4981)	ENST00000235382.5																			0				large_intestine(3)|lung(1)|urinary_tract(1)	5						c.(181-183)Ggc>Agc		regulator of G-protein signaling 2, 24kDa							77.0	81.0	80.0					1																	192779366		2203	4300	6503	SO:0001583	missense	5997				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192779366G>A	L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"""Regulators of G-protein signaling"", ""Endogenous ligands"""	9998	protein-coding gene	gene with protein product		600861	"""regulator of G-protein signalling 2, 24kD"", ""regulator of G-protein signalling 2, 24kDa"", ""regulator of G-protein signaling 2, 24kDa"""	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.181G>A	1.37:g.192779366G>A	ENSP00000235382:p.Gly61Ser		Somatic				RGS2_ENST00000483295.1_3'UTR	p.G61S	NM_002923.3	NP_002914.1	WXS	Illumina GAIIx	Phase_I	P41220	RGS2_HUMAN			2	212	+			61			Necessary for membrane association.		Q6I9U5	Missense_Mutation	SNP	ENST00000235382.5	37	c.181G>A	CCDS1377.1	.	.	.	.	.	.	.	.	.	.	G	3.045	-0.196614	0.06259	.	.	ENSG00000116741	ENST00000235382	T	0.69926	-0.44	5.37	-3.14	0.05250	.	1.061660	0.07252	N	0.866029	T	0.43077	0.1231	N	0.14661	0.345	0.09310	N	0.999999	B	0.12630	0.006	B	0.04013	0.001	T	0.38757	-0.9646	10	0.05833	T	0.94	.	12.1125	0.53848	0.7552:0.0:0.2448:0.0	.	61	P41220	RGS2_HUMAN	S	61	ENSP00000235382:G61S	ENSP00000235382:G61S	G	+	1	0	RGS2	191045989	0.331000	0.24713	0.268000	0.24571	0.845000	0.48019	0.406000	0.21032	-0.380000	0.07894	-0.345000	0.07892	GGC		0.363	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1	NM_002923		3	94	0	0	0	1	0	3	94				
SLC11A1	6556	broad.mit.edu	37	2	219252544	219252544	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:219252544C>T	ENST00000233202.6	+	8	1001	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	SLC11A1_ENST00000539932.1_Nonsense_Mutation_p.Q103*	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	221					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTCCTGAGCAGGGAGCGCT	0.682																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(661-663)Cag>Tag		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							21.0	23.0	23.0					2																	219252544		2202	4298	6500	SO:0001587	stop_gained	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219252544C>T	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.661C>T	2.37:g.219252544C>T	ENSP00000233202:p.Gln221*		Somatic				SLC11A1_ENST00000539932.1_Nonsense_Mutation_p.Q103*	p.Q221*	NM_000578.3	NP_000569.3	WXS	Illumina GAIIx	Phase_I	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1001	+		Renal(207;0.0474)	221					C0H5Y3	Nonsense_Mutation	SNP	ENST00000233202.6	37	c.661C>T	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	C	38	6.801290	0.97849	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	.	.	.	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-23.1493	18.4746	0.90788	0.0:1.0:0.0:0.0	.	.	.	.	X	221;103	.	ENSP00000233202:Q221X	Q	+	1	0	SLC11A1	218960788	1.000000	0.71417	0.905000	0.35620	0.066000	0.16364	7.338000	0.79269	2.665000	0.90641	0.561000	0.74099	CAG		0.682	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		4	16	0	0	0	1	0	4	16				
KRT13	3860	broad.mit.edu	37	17	39661407	39661407	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:39661407C>T	ENST00000246635.3	-	1	442	c.396G>A	c.(394-396)ctG>ctA	p.L132L	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Silent_p.L132L|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Silent_p.L132L	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	132	Coil 1A.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TCTTCACCTCCAGGTCAGCGT	0.597																																						ENST00000246635.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(394-396)ctG>ctA		keratin 13							127.0	120.0	122.0					17																	39661407		2203	4300	6503	SO:0001819	synonymous_variant	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39661407C>T		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.396G>A	17.37:g.39661407C>T			Somatic				KRT13_ENST00000587544.1_Silent_p.L132L|KRT13_ENST00000336861.3_Silent_p.L132L	p.L132L	NM_153490.2	NP_705694.2	WXS	Illumina GAIIx	Phase_I	P13646	K1C13_HUMAN			1	442	-		Breast(137;0.000286)	132			Coil 1A.|Rod.		Q53G54|Q6AZK5|Q8N240	Silent	SNP	ENST00000246635.3	37	c.396G>A	CCDS11396.1																																																																																				0.597	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		6	208	0	0	0	1	0	6	208				
CLTCL1	8218	broad.mit.edu	37	22	19226822	19226822	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:19226822C>T	ENST00000263200.10	-	5	843	c.771G>A	c.(769-771)caG>caA	p.Q257Q	CLTCL1_ENST00000353891.5_Silent_p.Q257Q|CLTCL1_ENST00000427926.1_Silent_p.Q257Q	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	257	Globular terminal domain.|WD40-like repeat 5.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GAAAATCATTCTGTGCCTCTG	0.453			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(769-771)caG>caA		clathrin, heavy chain-like 1							192.0	191.0	191.0					22																	19226822		1923	4135	6058	SO:0001819	synonymous_variant	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19226822C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.771G>A	22.37:g.19226822C>T			Somatic				CLTCL1_ENST00000353891.5_Silent_p.Q257Q|CLTCL1_ENST00000427926.1_Silent_p.Q257Q	p.Q257Q	NM_007098.3	NP_009029.3	WXS	Illumina GAIIx	Phase_I	P53675	CLH2_HUMAN			5	843	-	Colorectal(54;0.0993)		257			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	c.771G>A	CCDS46662.1																																																																																				0.453	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		11	451	0	0	0	1	0	11	451				
OR4D10	390197	broad.mit.edu	37	11	59244995	59244995	+	Silent	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:59244995A>T	ENST00000530162.1	+	1	150	c.93A>T	c.(91-93)ctA>ctT	p.L31L		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTTTTCCTACTCTTGGTGT	0.428																																						ENST00000530162.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(91-93)ctA>ctT		olfactory receptor, family 4, subfamily D, member 10							126.0	130.0	129.0					11																	59244995		2072	4235	6307	SO:0001819	synonymous_variant	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59244995A>T	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.93A>T	11.37:g.59244995A>T			Somatic					p.L31L	NM_001004705.1	NP_001004705.1	WXS	Illumina GAIIx	Phase_I	Q8NGI6	OR4DA_HUMAN			1	150	+			31					B2RNH6	Silent	SNP	ENST00000530162.1	37	c.93A>T	CCDS53636.1																																																																																				0.428	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		6	217	0	0	0	1	0	6	217				
PLA2G15	23659	broad.mit.edu	37	16	68283347	68283347	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:68283347C>G	ENST00000219345.5	+	2	365	c.282C>G	c.(280-282)atC>atG	p.I94M	PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Intron|PLA2G15_ENST00000566188.1_Missense_Mutation_p.I94M	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	94				I -> T (in Ref. 4; BAD96510). {ECO:0000305}.	ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)	p.I94M(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						TTGACAATATCAGGTGGGGGC	0.547																																						ENST00000219345.5																			1	Substitution - Missense(1)	p.I94M(1)	kidney(1)	kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						c.(280-282)atC>atG		phospholipase A2, group XV							71.0	65.0	67.0					16																	68283347		2198	4300	6498	SO:0001583	missense	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68283347C>G	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.282C>G	16.37:g.68283347C>G	ENSP00000219345:p.Ile94Met		Somatic				PLA2G15_ENST00000413021.2_Intron|PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000566188.1_Missense_Mutation_p.I94M	p.I94M	NM_012320.3	NP_036452.1	WXS	Illumina GAIIx	Phase_I	Q8NCC3	PAG15_HUMAN			2	365	+			94	I -> T (in Ref. 4; BAD96510).				B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	ENST00000219345.5	37	c.282C>G	CCDS10864.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513809	0.27123	.	.	ENSG00000103066	ENST00000219345	D	0.95342	-3.68	5.38	5.38	0.77491	.	0.140698	0.64402	D	0.000005	D	0.89560	0.6750	N	0.13140	0.3	0.80722	D	1	P;B	0.39535	0.677;0.251	B;B	0.43445	0.42;0.108	D	0.87035	0.2137	10	0.05620	T	0.96	-22.8038	19.1027	0.93281	0.0:1.0:0.0:0.0	.	94;94	B4DJW4;Q8NCC3	.;PAG15_HUMAN	M	94	ENSP00000219345:I94M	ENSP00000219345:I94M	I	+	3	3	PLA2G15	66840848	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.683000	0.37638	2.692000	0.91855	0.561000	0.74099	ATC		0.547	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		53	161	0	0	0	1	0	53	161				
ST3GAL4	6484	broad.mit.edu	37	11	126283520	126283520	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:126283520C>T	ENST00000526727.1	+	9	1266	c.892C>T	c.(892-894)Cag>Tag	p.Q298*	ST3GAL4_ENST00000534083.1_Nonsense_Mutation_p.Q298*|ST3GAL4_ENST00000532243.1_Nonsense_Mutation_p.Q297*|ST3GAL4_ENST00000534457.1_Nonsense_Mutation_p.Q293*|ST3GAL4_ENST00000530591.1_Nonsense_Mutation_p.Q294*|ST3GAL4_ENST00000227495.6_Nonsense_Mutation_p.Q294*|ST3GAL4_ENST00000356132.4_Nonsense_Mutation_p.Q304*|ST3GAL4_ENST00000449406.2_Nonsense_Mutation_p.Q287*|ST3GAL4_ENST00000392669.2_Nonsense_Mutation_p.Q298*|ST3GAL4_ENST00000444328.2_Nonsense_Mutation_p.Q298*			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	298					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CTACTATGAGCAGATCACGCT	0.597																																						ENST00000526727.1																			0				endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(892-894)Cag>Tag		ST3 beta-galactoside alpha-2,3-sialyltransferase 4							116.0	92.0	100.0					11																	126283520		2201	4297	6498	SO:0001587	stop_gained	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126283520C>T	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.892C>T	11.37:g.126283520C>T	ENSP00000436047:p.Gln298*		Somatic				ST3GAL4_ENST00000227495.6_Nonsense_Mutation_p.Q294*|ST3GAL4_ENST00000534083.1_Nonsense_Mutation_p.Q298*|ST3GAL4_ENST00000449406.2_Nonsense_Mutation_p.Q287*|ST3GAL4_ENST00000534457.1_Nonsense_Mutation_p.Q293*|ST3GAL4_ENST00000356132.4_Nonsense_Mutation_p.Q304*|ST3GAL4_ENST00000392669.2_Nonsense_Mutation_p.Q298*|ST3GAL4_ENST00000530591.1_Nonsense_Mutation_p.Q294*|ST3GAL4_ENST00000532243.1_Nonsense_Mutation_p.Q297*|ST3GAL4_ENST00000444328.2_Nonsense_Mutation_p.Q298*	p.Q298*			WXS	Illumina GAIIx	Phase_I	Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	9	1266	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	298					A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Nonsense_Mutation	SNP	ENST00000526727.1	37	c.892C>T	CCDS58193.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477076	0.84640	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457;ENST00000524860	.	.	.	5.33	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	8.5301	0.33329	0.1478:0.7714:0.0:0.0808	.	.	.	.	X	294;298;304;294;298;298;298;287;297;293;134	.	ENSP00000227495:Q294X	Q	+	1	0	ST3GAL4	125788730	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.528000	0.35985	1.133000	0.42147	0.455000	0.32223	CAG		0.597	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		4	213	0	0	0	1	0	4	213				
RHBDD2	57414	broad.mit.edu	37	7	75513104	75513104	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:75513104G>C	ENST00000006777.6	+	3	810	c.675G>C	c.(673-675)agG>agC	p.R225S	RHBDD2_ENST00000428119.1_Missense_Mutation_p.R84S|RHBDD2_ENST00000318622.4_Missense_Mutation_p.R84S|RHBDD2_ENST00000468304.1_Intron	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	225						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						TGATGAGGAGGATATCCGTGT	0.527																																						ENST00000318622.4																			0				kidney(1)|lung(4)|prostate(1)	6						c.(250-252)agG>agC		rhomboid domain containing 2							153.0	149.0	151.0					7																	75513104		2029	4191	6220	SO:0001583	missense	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75513104G>C	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.675G>C	7.37:g.75513104G>C	ENSP00000006777:p.Arg225Ser		Somatic				RHBDD2_ENST00000006777.6_Missense_Mutation_p.R225S|RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_Missense_Mutation_p.R84S	p.R84S	NM_001040457.1	NP_001035547.1	WXS	Illumina GAIIx	Phase_I	Q6NTF9	RHBD2_HUMAN			4	881	+			225					Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Missense_Mutation	SNP	ENST00000006777.6	37	c.252G>C	CCDS43602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.32|12.32	1.903524|1.903524	0.33628|0.33628	.|.	.|.	ENSG00000005486|ENSG00000005486	ENST00000413229|ENST00000006777;ENST00000318622;ENST00000428119	.|T	.|0.38077	.|1.16	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|2.875200	.|0.01065	.|N	.|0.004716	T|T	0.35595|0.35595	0.0937|0.0937	L|L	0.29908|0.29908	0.895|0.895	0.32282|0.32282	N|N	0.567453|0.567453	.|P	.|0.37423	.|0.594	.|B	.|0.38562	.|0.276	T|T	0.28808|0.28808	-1.0032|-1.0032	6|10	0.15952|0.56958	T|D	0.53|0.05	-6.9309|-6.9309	9.573|9.573	0.39440|0.39440	0.0769:0.1434:0.7797:0.0|0.0769:0.1434:0.7797:0.0	.|.	.|225	.|Q6NTF9	.|RHBD2_HUMAN	H|S	270|225;84;84	.|ENSP00000006777:R225S	ENSP00000407074:D270H|ENSP00000006777:R225S	D|R	+|+	1|3	0|2	RHBDD2|RHBDD2	75351040|75351040	0.992000|0.992000	0.36948|0.36948	0.872000|0.872000	0.34217|0.34217	0.364000|0.364000	0.29643|0.29643	1.777000|1.777000	0.38604|0.38604	2.630000|2.630000	0.89119|0.89119	0.650000|0.650000	0.86243|0.86243	GAT|AGG		0.527	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684		3	325	0	0	0	1	0	3	325				
CAV2	858	broad.mit.edu	37	7	116140323	116140323	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:116140323G>A	ENST00000222693.4	+	2	552	c.160G>A	c.(160-162)Gag>Aag	p.E54K	CAV2_ENST00000462876.1_3'UTR|CAV2_ENST00000393480.2_Missense_Mutation_p.E54K|CAV2_ENST00000343213.2_Intron|AC002066.1_ENST00000446355.2_RNA	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	54					caveola assembly (GO:0070836)|endoplasmic reticulum organization (GO:0007029)|mitochondrion organization (GO:0007005)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of endothelial cell proliferation (GO:0001938)|protein oligomerization (GO:0051259)|regulation of mitosis (GO:0007088)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)|vesicle docking (GO:0048278)|vesicle fusion (GO:0006906)|vesicle organization (GO:0016050)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	D1 dopamine receptor binding (GO:0031748)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			GCTGGGCTTCGAGGATGTGAT	0.577																																						ENST00000222693.4																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(160-162)Gag>Aag		caveolin 2							111.0	96.0	101.0					7																	116140323		2203	4300	6503	SO:0001583	missense	858				caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity	g.chr7:116140323G>A	AF035752	CCDS5765.1, CCDS5766.1	7q31	2006-02-09			ENSG00000105971	ENSG00000105971			1528	protein-coding gene	gene with protein product		601048				8552590, 10087206	Standard	NM_001233		Approved	CAV	uc003vid.3	P51636	OTTHUMG00000023414	ENST00000222693.4:c.160G>A	7.37:g.116140323G>A	ENSP00000222693:p.Glu54Lys		Somatic				CAV2_ENST00000393480.2_Missense_Mutation_p.E54K|CAV2_ENST00000462876.1_3'UTR|CAV2_ENST00000343213.2_Intron	p.E54K	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	WXS	Illumina GAIIx	Phase_I	P51636	CAV2_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		2	552	+	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		54					A4D0U2|Q9UGM7	Missense_Mutation	SNP	ENST00000222693.4	37	c.160G>A	CCDS5766.1	.	.	.	.	.	.	.	.	.	.	G	35	5.570060	0.96540	.	.	ENSG00000105971	ENST00000222693;ENST00000393480	D;D	0.94758	-3.51;-3.51	4.6	2.69	0.31865	Caveolin, conserved site (1);	0.270254	0.42053	D	0.000764	D	0.97139	0.9065	M	0.92268	3.29	0.80722	D	1	P	0.52842	0.956	P	0.57371	0.819	D	0.97241	0.9891	10	0.72032	D	0.01	-30.7784	14.4974	0.67698	0.0:0.2803:0.7197:0.0	.	54	P51636	CAV2_HUMAN	K	54	ENSP00000222693:E54K;ENSP00000377120:E54K	ENSP00000222693:E54K	E	+	1	0	CAV2	115927559	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.480000	0.66820	0.421000	0.25980	0.563000	0.77884	GAG		0.577	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059735.4	NM_001233		7	108	0	0	0	1	0	7	108				
CELA3B	23436	broad.mit.edu	37	1	22304925	22304925	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:22304925T>A	ENST00000337107.6	+	2	126	c.107T>A	c.(106-108)gTc>gAc	p.V36D	RN7SL421P_ENST00000582599.1_RNA	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	36	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.V36D(1)		breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GAGGATGCGGTCCCCTACAGC	0.622																																						ENST00000337107.6																			1	Substitution - Missense(1)	p.V36D(1)	kidney(1)	breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(106-108)gTc>gAc		chymotrypsin-like elastase family, member 3B							142.0	90.0	108.0					1																	22304925		2203	4300	6503	SO:0001583	missense	23436				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:22304925T>A	M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"""proteinase E"", ""elastase 1"", ""cholesterol-binding pancreatic protease"", ""pancreatic endopeptidase E"""		"""elastase 3B, pancreatic"""	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.107T>A	1.37:g.22304925T>A	ENSP00000338369:p.Val36Asp		Somatic					p.V36D	NM_007352.2	NP_031378.1	WXS	Illumina GAIIx	Phase_I	P08861	CEL3B_HUMAN			2	126	+			36			Peptidase S1.		B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Missense_Mutation	SNP	ENST00000337107.6	37	c.107T>A	CCDS219.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.679528	0.47886	.	.	ENSG00000219073	ENST00000337107;ENST00000374666	D;D	0.88277	-2.36;-2.36	5.1	3.89	0.44902	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.570267	0.17813	N	0.161143	D	0.84674	0.5524	L	0.35793	1.09	0.09310	N	0.999996	P;B	0.47677	0.899;0.011	P;B	0.49953	0.627;0.029	T	0.75025	-0.3463	10	0.34782	T	0.22	-17.6268	3.9217	0.09247	0.1853:0.0973:0.0:0.7174	.	36;36	B1AQ52;P08861	.;CEL3B_HUMAN	D	36;52	ENSP00000338369:V36D;ENSP00000363798:V52D	ENSP00000338369:V36D	V	+	2	0	CELA3B	22177512	0.000000	0.05858	0.300000	0.25030	0.939000	0.58152	0.503000	0.22610	1.924000	0.55735	0.528000	0.53228	GTC		0.622	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007797.1	NM_007352		53	95	0	0	0	1	0	53	95				
USP28	57646	broad.mit.edu	37	11	113683165	113683165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:113683165C>T	ENST00000003302.4	-	16	1873	c.1805G>A	c.(1804-1806)tGg>tAg	p.W602*	USP28_ENST00000544967.1_Nonsense_Mutation_p.W310*|USP28_ENST00000545540.1_Nonsense_Mutation_p.W477*|USP28_ENST00000260188.5_Nonsense_Mutation_p.W602*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	602	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GATATAGGCCCAATAGTGTCC	0.443																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1804-1806)tGg>tAg		ubiquitin specific peptidase 28							136.0	140.0	139.0					11																	113683165		2201	4296	6497	SO:0001587	stop_gained	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113683165C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1805G>A	11.37:g.113683165C>T	ENSP00000003302:p.Trp602*		Somatic				USP28_ENST00000544967.1_Nonsense_Mutation_p.W310*|USP28_ENST00000545540.1_Nonsense_Mutation_p.W477*|USP28_ENST00000260188.5_Nonsense_Mutation_p.W602*	p.W602*	NM_020886.2	NP_065937.1	WXS	Illumina GAIIx	Phase_I	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	16	1873	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	602					B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP	ENST00000003302.4	37	c.1805G>A	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	39	7.447250	0.98289	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4685	19.1336	0.93417	0.0:1.0:0.0:0.0	.	.	.	.	X	602;602;310;477;306	.	ENSP00000003302:W602X	W	-	2	0	USP28	113188375	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.504000	0.84457	0.655000	0.94253	TGG		0.443	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			5	176	0	0	0	1	0	5	176				
SLC25A13	10165	broad.mit.edu	37	7	95775879	95775879	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:95775879C>T	ENST00000265631.5	-	14	1577	c.1441G>A	c.(1441-1443)Ggg>Agg	p.G481R	SLC25A13_ENST00000416240.2_Missense_Mutation_p.G482R|SLC25A13_ENST00000542654.1_Missense_Mutation_p.G373R			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	481					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTGTAGATCCCAAAAAACCCC	0.388																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(1444-1446)Ggg>Agg		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						95.0	111.0	106.0					7																	95775879		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95775879C>T	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1441G>A	7.37:g.95775879C>T	ENSP00000265631:p.Gly481Arg		Somatic				SLC25A13_ENST00000265631.5_Missense_Mutation_p.G481R|SLC25A13_ENST00000542654.1_Missense_Mutation_p.G373R	p.G482R	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	WXS	Illumina GAIIx	Phase_I	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		14	1634	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		481					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.1444G>A	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904080	0.92035	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	D;D;D	0.83163	-1.69;-1.69;-1.69	4.63	4.63	0.57726	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93194	0.7832	M	0.92880	3.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94541	0.7745	10	0.66056	D	0.02	-11.441	18.0706	0.89405	0.0:1.0:0.0:0.0	.	373;482;481	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	R	481;482;373	ENSP00000265631:G481R;ENSP00000400101:G482R;ENSP00000440484:G373R	ENSP00000265631:G481R	G	-	1	0	SLC25A13	95613815	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.575000	0.86900	0.655000	0.94253	GGG		0.388	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		6	163	0	0	0	1	0	6	163				
KCTD18	130535	broad.mit.edu	37	2	201354993	201354993	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:201354993G>C	ENST00000359878.3	-	7	1621	c.1111C>G	c.(1111-1113)Cct>Gct	p.P371A	KCTD18_ENST00000468413.1_5'Flank|KCTD18_ENST00000409157.1_Missense_Mutation_p.P371A	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	371					protein homooligomerization (GO:0051260)			p.P371A(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TGGGGTGTAGGCTTCTTGTCG	0.647																																						ENST00000359878.3																			1	Substitution - Missense(1)	p.P371A(1)	kidney(1)	endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1111-1113)Cct>Gct		potassium channel tetramerization domain containing 18							86.0	84.0	84.0					2																	201354993		2203	4300	6503	SO:0001583	missense	130535					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:201354993G>C	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.1111C>G	2.37:g.201354993G>C	ENSP00000352941:p.Pro371Ala		Somatic				KCTD18_ENST00000409157.1_Missense_Mutation_p.P371A	p.P371A	NM_152387.2	NP_689600.2	WXS	Illumina GAIIx	Phase_I	Q6PI47	KCD18_HUMAN			7	1621	-			371					Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	c.1111C>G	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	G	7.323	0.617331	0.14129	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.30714	1.52;1.52	4.61	-9.23	0.00672	.	1.051430	0.07443	N	0.897636	T	0.11110	0.0271	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25398	-1.0133	10	0.23302	T	0.38	3.0E-4	6.7388	0.23424	0.1044:0.5549:0.2452:0.0955	.	371	Q6PI47	KCD18_HUMAN	A	371	ENSP00000352941:P371A;ENSP00000386751:P371A	ENSP00000352941:P371A	P	-	1	0	KCTD18	201063238	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.089000	0.03376	-2.047000	0.00908	-0.175000	0.13238	CCT		0.647	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387		40	170	0	0	0	1	0	40	170				
ZZEF1	23140	broad.mit.edu	37	17	3992096	3992096	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:3992096G>A	ENST00000381638.2	-	13	2241	c.2117C>T	c.(2116-2118)gCa>gTa	p.A706V	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	706							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.A706V(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTCTGCTCTTGCAGGCCGGAG	0.567																																						ENST00000381638.2																			1	Substitution - Missense(1)	p.A706V(1)	endometrium(1)	central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(2116-2118)gCa>gTa		zinc finger, ZZ-type with EF-hand domain 1							143.0	105.0	117.0					17																	3992096		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3992096G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2117C>T	17.37:g.3992096G>A	ENSP00000371051:p.Ala706Val		Somatic				ZZEF1_ENST00000574474.1_5'UTR	p.A706V	NM_015113.3	NP_055928.3	WXS	Illumina GAIIx	Phase_I	O43149	ZZEF1_HUMAN			13	2241	-			706					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.2117C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453818	0.43531	.	.	ENSG00000074755	ENST00000381638	T	0.21361	2.01	5.91	1.53	0.23141	.	0.844597	0.11246	N	0.584196	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	B;B	0.18166	0.026;0.015	B;B	0.21360	0.034;0.015	T	0.30179	-0.9987	10	0.44086	T	0.13	0.0472	4.6219	0.12460	0.2228:0.0:0.5331:0.2441	.	706;706	O43149-3;O43149	.;ZZEF1_HUMAN	V	706	ENSP00000371051:A706V	ENSP00000371051:A706V	A	-	2	0	ZZEF1	3938845	0.001000	0.12720	0.013000	0.15412	0.977000	0.68977	0.875000	0.28079	0.416000	0.25844	0.650000	0.86243	GCA		0.567	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		4	114	0	0	0	1	0	4	114				
NAV2	89797	broad.mit.edu	37	11	19970423	19970423	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:19970423C>T	ENST00000396087.3	+	11	2610	c.2511C>T	c.(2509-2511)atC>atT	p.I837I	NAV2_ENST00000540292.1_Silent_p.I768I|NAV2_ENST00000527559.2_Silent_p.I766I|NAV2_ENST00000349880.4_Silent_p.I814I|NAV2_ENST00000396085.1_Silent_p.I814I|NAV2_ENST00000360655.4_Silent_p.I750I	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	837					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCAGGTTCATCAACACTGAGT	0.622																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(2440-2442)atC>atT		neuron navigator 2							91.0	83.0	86.0					11																	19970423		2199	4293	6492	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:19970423C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2511C>T	11.37:g.19970423C>T			Somatic				NAV2_ENST00000349880.4_Silent_p.I814I|NAV2_ENST00000527559.2_Silent_p.I766I|NAV2_ENST00000396087.3_Silent_p.I837I|NAV2_ENST00000360655.4_Silent_p.I750I|NAV2_ENST00000540292.1_Silent_p.I768I	p.I814I	NM_182964.5	NP_892009.3	WXS	Illumina GAIIx	Phase_I	Q8IVL1	NAV2_HUMAN			10	2803	+			837					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.2442C>T	CCDS58126.1																																																																																				0.622	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		25	323	0	0	0	1	0	25	323				
ARPC2	10109	broad.mit.edu	37	2	219099073	219099073	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:219099073A>T	ENST00000295685.10	+	4	483		c.e4-1		ARPC2_ENST00000315717.5_Splice_Site	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa						Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TTTATTTTCTAGTTATTAAAG	0.363																																						ENST00000295685.10																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.e4-1		actin related protein 2/3 complex, subunit 2, 34kDa							101.0	105.0	103.0					2																	219099073		2203	4299	6502	SO:0001630	splice_region_variant	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219099073A>T	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.223-1A>T	2.37:g.219099073A>T			Somatic				ARPC2_ENST00000315717.5_Splice_Site		NM_005731.2	NP_005722.1	WXS	Illumina GAIIx	Phase_I	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	4	483	+		Renal(207;0.0474)						Q92801|Q9P1D4	Splice_Site	SNP	ENST00000295685.10	37		CCDS2410.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758264	0.69763	.	.	ENSG00000163466	ENST00000315717;ENST00000420104;ENST00000295685	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1728	0.65522	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARPC2	218807318	1.000000	0.71417	0.985000	0.45067	0.833000	0.47200	7.690000	0.84178	2.281000	0.76405	0.533000	0.62120	.		0.363	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731	Intron	7	164	0	0	0	1	0	7	164				
RASSF8	11228	broad.mit.edu	37	12	26220646	26220646	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:26220646G>A	ENST00000405154.2	+	4	1337	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	RASSF8_ENST00000282884.9_Splice_Site_p.E380K|RASSF8_ENST00000542865.1_Splice_Site_p.E380K|RASSF8_ENST00000541490.1_Splice_Site_p.E380K|RASSF8_ENST00000381352.3_Splice_Site_p.G380R	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	380					signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					CATTGAAAGGGGTAAGATGTT	0.408																																						ENST00000405154.2																			0				cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25						c.e4+1		Ras association (RalGDS/AF-6) domain family (N-terminal) member 8							113.0	110.0	111.0					12																	26220646		2203	4300	6503	SO:0001630	splice_region_variant	11228				signal transduction			g.chr12:26220646G>A	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.1138+1G>A	12.37:g.26220646G>A			Somatic				RASSF8_ENST00000282884.9_Splice_Site_p.E380_splice|RASSF8_ENST00000541490.1_Splice_Site_p.E380_splice|RASSF8_ENST00000542865.1_Splice_Site_p.E380_splice|RASSF8_ENST00000381352.3_Splice_Site_p.G380_splice	p.E380_splice	NM_001164748.1	NP_001158220.1	WXS	Illumina GAIIx	Phase_I	Q8NHQ8	RASF8_HUMAN			4	1337	+	Colorectal(261;0.0847)		380					A8K1Z0|O95647|Q5SCI2|Q76KB6	Splice_Site	SNP	ENST00000405154.2	37	c.1138_splice	CCDS53765.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.92|10.92	1.487257|1.487257	0.26686|0.26686	.|.	.|.	ENSG00000123094|ENSG00000123094	ENST00000405154;ENST00000542865;ENST00000541490;ENST00000282884|ENST00000381352	T;T;T;T|T	0.31247|0.29917	1.5;1.5;1.5;1.5|1.55	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	0.275958|.	0.33980|.	N|.	0.004363|.	T|T	0.19685|0.19685	0.0473|0.0473	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	P|P	0.47409|0.47484	0.895|0.896	B|B	0.34873|0.31245	0.191|0.126	T|T	0.06250|0.06250	-1.0837|-1.0837	10|9	0.21540|0.14656	T|T	0.41|0.56	-7.4224|-7.4224	12.9793|12.9793	0.58554|0.58554	0.0:0.0:0.8386:0.1614|0.0:0.0:0.8386:0.1614	.|.	380|380	Q8NHQ8|Q8NHQ8-2	RASF8_HUMAN|.	K|R	380|380	ENSP00000384491:E380K;ENSP00000439839:E380K;ENSP00000443096:E380K;ENSP00000282884:E380K|ENSP00000370756:G380R	ENSP00000282884:E380K|ENSP00000370756:G380R	E|G	+|+	1|1	0|0	RASSF8|RASSF8	26111913|26111913	1.000000|1.000000	0.71417|0.71417	0.859000|0.859000	0.33776|0.33776	0.058000|0.058000	0.15608|0.15608	7.678000|7.678000	0.84035|0.84035	2.573000|2.573000	0.86826|0.86826	0.655000|0.655000	0.94253|0.94253	GAG|GGG		0.408	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211	Missense_Mutation	7	262	0	0	0	1	0	7	262				
ZNF124	7678	broad.mit.edu	37	1	247319939	247319939	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:247319939G>A	ENST00000543802.2	-	4	1074	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000340684.6_Missense_Mutation_p.R267C|ZNF124_ENST00000491848.1_5'Flank			Q15973	ZN124_HUMAN	zinc finger protein 124	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GTACTAGCACGACTAAAGGCT	0.383																																						ENST00000340684.6																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14						c.(799-801)Cgt>Tgt		zinc finger protein 124							90.0	92.0	92.0					1																	247319939		2203	4300	6503	SO:0001583	missense	7678				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247319939G>A	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.985C>T	1.37:g.247319939G>A	ENSP00000440365:p.Arg329Cys		Somatic				ZNF124_ENST00000543802.2_Missense_Mutation_p.R329C|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron	p.R267C	NM_003431.2	NP_003422.2	WXS	Illumina GAIIx	Phase_I	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		4	937	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		329					B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Missense_Mutation	SNP	ENST00000543802.2	37	c.799C>T		.	.	.	.	.	.	.	.	.	.	G	12.62	1.993788	0.35131	.	.	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802;ENST00000540601	T	0.19532	2.14	0.689	-0.976	0.10286	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12902	0.0313	L	0.39898	1.24	0.09310	N	1	B;B	0.22414	0.069;0.01	B;B	0.14578	0.011;0.001	T	0.30268	-0.9984	9	0.32370	T	0.25	.	2.248	0.04036	0.3889:0.3112:0.3:0.0	.	329;267	Q15973;Q15973-4	ZN124_HUMAN;.	C	290;267;273;133	ENSP00000340749:R267C	ENSP00000340749:R267C	R	-	1	0	ZNF124	245386562	0.000000	0.05858	0.001000	0.08648	0.821000	0.46438	-0.054000	0.11826	-0.378000	0.07918	0.306000	0.20318	CGT		0.383	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431		4	104	0	0	0	1	0	4	104				
MUC16	94025	broad.mit.edu	37	19	9073804	9073804	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:9073804C>T	ENST00000397910.4	-	3	13845	c.13642G>A	c.(13642-13644)Gca>Aca	p.A4548T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4550	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTACATGTGCTGAACTGGCA	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(13642-13644)Gca>Aca		mucin 16, cell surface associated							129.0	127.0	128.0					19																	9073804		2094	4192	6286	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073804C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13642G>A	19.37:g.9073804C>T	ENSP00000381008:p.Ala4548Thr		Somatic					p.A4548T	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	13845	-			4550			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13642G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.643	0.119494	0.08881	.	.	ENSG00000181143	ENST00000397910	T	0.22743	1.94	1.43	0.308	0.15815	.	.	.	.	.	T	0.09992	0.0245	L	0.29908	0.895	.	.	.	P	0.50710	0.938	B	0.31751	0.135	T	0.23833	-1.0177	8	0.87932	D	0	.	4.0493	0.09788	0.0:0.762:0.0:0.238	.	4548	B5ME49	.	T	4548	ENSP00000381008:A4548T	ENSP00000381008:A4548T	A	-	1	0	MUC16	8934804	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.536000	0.23129	0.136000	0.18733	0.205000	0.17691	GCA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	442	0	0	0	1	0	5	442				
ZNF578	147660	broad.mit.edu	37	19	53014190	53014190	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:53014190G>A	ENST00000421239.2	+	6	800	c.556G>A	c.(556-558)Gat>Aat	p.D186N	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GTCTGTCAACGATGCTTCCTC	0.368																																						ENST00000421239.2																			0											c.(556-558)Gat>Aat		zinc finger protein 578							85.0	89.0	88.0					19																	53014190		2199	4299	6498	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014190G>A	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.556G>A	19.37:g.53014190G>A	ENSP00000459216:p.Asp186Asn		Somatic					p.D186N	NM_001099694.1	NP_001093164.1	WXS	Illumina GAIIx	Phase_I	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	800	+			101					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.556G>A	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	0.236	-1.017370	0.02078	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.42	-2.05	0.07321	.	.	.	.	.	T	0.25269	0.0614	N	0.10760	0.04	0.09310	N	1	D	0.76494	0.999	D	0.77557	0.99	T	0.17289	-1.0374	7	.	.	.	.	3.3444	0.07129	0.4378:0.2185:0.3437:0.0	.	186	G3V4F6	.	N	186	.	.	D	+	1	0	ZNF578	57706002	0.000000	0.05858	0.038000	0.18304	0.542000	0.35054	0.117000	0.15583	-0.120000	0.11809	0.134000	0.15878	GAT		0.368	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		11	199	0	0	0	1	0	11	199				
TMPRSS15	5651	broad.mit.edu	37	21	19666661	19666661	+	Silent	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:19666661A>G	ENST00000284885.3	-	21	2445	c.2412T>C	c.(2410-2412)taT>taC	p.Y804Y		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	804	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Y804Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GTCGGCCGCCATAATACAGAC	0.557																																						ENST00000284885.3																			1	Substitution - coding silent(1)	p.Y804Y(1)	kidney(1)	NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2410-2412)taT>taC		transmembrane protease, serine 15							94.0	101.0	98.0					21																	19666661		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19666661A>G		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2412T>C	21.37:g.19666661A>G			Somatic					p.Y804Y	NM_002772.2	NP_002763.2	WXS	Illumina GAIIx	Phase_I	P98073	ENTK_HUMAN			21	2445	-			804			Peptidase S1.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.2412T>C	CCDS13571.1																																																																																				0.557	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		18	115	0	0	0	1	0	18	115				
ST6GALNAC3	256435	broad.mit.edu	37	1	77093246	77093246	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:77093246T>A	ENST00000328299.3	+	4	879		c.e4+2			NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3						glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CTACTGCAAGTAAGATCACAA	0.393																																						ENST00000328299.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.e4+2		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3							131.0	127.0	128.0					1																	77093246		2203	4300	6503	SO:0001630	splice_region_variant	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77093246T>A		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.731+2T>A	1.37:g.77093246T>A			Somatic						NM_152996.2	NP_694541.2	WXS	Illumina GAIIx	Phase_I	Q8NDV1	SIA7C_HUMAN			4	879	+								Q6PCE0|Q6UX29|Q8N259	Splice_Site	SNP	ENST00000328299.3	37		CCDS672.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943957	0.73672	.	.	ENSG00000184005	ENST00000328299;ENST00000394993	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5253	0.67884	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ST6GALNAC3	76865834	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.643000	0.83403	2.238000	0.73509	0.528000	0.53228	.		0.393	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996	Intron	8	525	0	0	0	1	0	8	525				
BSCL2	26580	broad.mit.edu	37	11	62457917	62457917	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:62457917G>A	ENST00000403550.1	-	11	1542	c.1119C>T	c.(1117-1119)gcC>gcT	p.A373A	BSCL2_ENST00000433053.1_Silent_p.A437A|BSCL2_ENST00000421906.1_Silent_p.A373A|BSCL2_ENST00000360796.5_Silent_p.A437A|LRRN4CL_ENST00000317449.4_5'Flank|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000278893.7_3'UTR|BSCL2_ENST00000407022.3_Silent_p.A373A|BSCL2_ENST00000405837.1_Silent_p.A439A			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	373					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CTAGGACAGGGGCAGAAGCAG	0.597																																						ENST00000433053.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						c.(1309-1311)gcC>gcT		Berardinelli-Seip congenital lipodystrophy 2 (seipin)							46.0	45.0	46.0					11																	62457917		2202	4299	6501	SO:0001819	synonymous_variant	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62457917G>A		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.1119C>T	11.37:g.62457917G>A			Somatic				BSCL2_ENST00000278893.7_3'UTR|BSCL2_ENST00000403550.1_Silent_p.A373A|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000405837.1_Silent_p.A439A|BSCL2_ENST00000407022.3_Silent_p.A373A|BSCL2_ENST00000360796.5_Silent_p.A437A|BSCL2_ENST00000421906.1_Silent_p.A373A	p.A437A			WXS	Illumina GAIIx	Phase_I	Q96G97	BSCL2_HUMAN			12	1867	-			373					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Silent	SNP	ENST00000403550.1	37	c.1311C>T	CCDS8031.1																																																																																				0.597	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		8	84	0	0	0	1	0	8	84				
INPP5D	3635	broad.mit.edu	37	2	234072505	234072505	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:234072505C>T	ENST00000359570.5	+	14	1357	c.1357C>T	c.(1357-1359)Ctc>Ttc	p.L453F	INPP5D_ENST00000450745.1_Missense_Mutation_p.L217F|INPP5D_ENST00000538935.1_Missense_Mutation_p.L452F|INPP5D_ENST00000455936.2_Missense_Mutation_p.L217F			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	465					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCTGGAGATCCTCAAACACTC	0.557																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(1357-1359)Ctc>Ttc		inositol polyphosphate-5-phosphatase, 145kDa							68.0	71.0	70.0					2																	234072505		2009	4161	6170	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234072505C>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1357C>T	2.37:g.234072505C>T	ENSP00000352575:p.Leu453Phe		Somatic				INPP5D_ENST00000455936.2_Missense_Mutation_p.L217F|INPP5D_ENST00000538935.1_Missense_Mutation_p.L452F|INPP5D_ENST00000450745.1_Missense_Mutation_p.L217F	p.L453F			WXS	Illumina GAIIx	Phase_I	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	14	1357	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	465					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.1357C>T		.	.	.	.	.	.	.	.	.	.	C	19.59	3.856654	0.71834	.	.	ENSG00000168918	ENST00000359570;ENST00000538935;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91;-3.91;-3.91;-3.91	5.08	5.08	0.68730	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.200738	0.43919	D	0.000506	D	0.96667	0.8912	.	.	.	0.38000	D	0.934199	P;P	0.51240	0.904;0.943	B;P	0.52758	0.315;0.708	D	0.98487	1.0608	9	0.87932	D	0	.	18.6649	0.91486	0.0:1.0:0.0:0.0	.	464;465	Q92835-2;Q92835	.;SHIP1_HUMAN	F	453;452;217;217;86;86;86	ENSP00000352575:L453F;ENSP00000441010:L452F;ENSP00000407916:L217F;ENSP00000404610:L217F;ENSP00000400151:L86F;ENSP00000397421:L86F;ENSP00000405338:L86F	ENSP00000352575:L453F	L	+	1	0	INPP5D	233736577	0.991000	0.36638	0.980000	0.43619	0.999000	0.98932	2.684000	0.46951	2.652000	0.90054	0.655000	0.94253	CTC		0.557	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		5	221	0	0	0	1	0	5	221				
SETD7	80854	broad.mit.edu	37	4	140444560	140444560	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:140444560A>G	ENST00000274031.3	-	5	1228	c.592T>C	c.(592-594)Tca>Cca	p.S198P	SETD7_ENST00000506866.2_Missense_Mutation_p.S198P	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	198					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					ATGCAAGATGAAGTCGACTTA	0.363																																						ENST00000274031.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(592-594)Tca>Cca		SET domain containing (lysine methyltransferase) 7							133.0	136.0	135.0					4																	140444560		2203	4300	6503	SO:0001583	missense	80854				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding	g.chr4:140444560A>G	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.592T>C	4.37:g.140444560A>G	ENSP00000274031:p.Ser198Pro		Somatic				SETD7_ENST00000506866.2_Missense_Mutation_p.S198P	p.S198P	NM_030648.2	NP_085151.1	WXS	Illumina GAIIx	Phase_I	Q8WTS6	SETD7_HUMAN			5	1228	-	all_hematologic(180;0.156)		198					B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Missense_Mutation	SNP	ENST00000274031.3	37	c.592T>C	CCDS3748.1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.603487	0.28534	.	.	ENSG00000145391	ENST00000506866;ENST00000274031	D;D	0.85484	-1.99;-1.99	5.67	2.88	0.33553	.	0.178722	0.51477	D	0.000088	T	0.65491	0.2696	N	0.04880	-0.145	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55062	-0.8199	10	0.25106	T	0.35	-4.553	6.7277	0.23365	0.7232:0.1372:0.1397:0.0	.	198	Q8WTS6	SETD7_HUMAN	P	198	ENSP00000427300:S198P;ENSP00000274031:S198P	ENSP00000274031:S198P	S	-	1	0	SETD7	140664010	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	4.365000	0.59486	0.951000	0.37770	0.533000	0.62120	TCA		0.363	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648		3	298	0	0	0	1	0	3	298				
IRF9	10379	broad.mit.edu	37	14	24633309	24633309	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:24633309G>A	ENST00000396864.3	+	6	902	c.615G>A	c.(613-615)caG>caA	p.Q205Q	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Silent_p.Q103Q	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	205					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AAGGGGATCAGAGGTCCCTGG	0.557																																						ENST00000396864.3																			0				NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(613-615)caG>caA		interferon regulatory factor 9							173.0	157.0	162.0					14																	24633309		2203	4300	6503	SO:0001819	synonymous_variant	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24633309G>A	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.615G>A	14.37:g.24633309G>A			Somatic				RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Silent_p.Q103Q	p.Q205Q	NM_006084.4	NP_006075.3	WXS	Illumina GAIIx	Phase_I	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	6	902	+			205					D3DS61	Silent	SNP	ENST00000396864.3	37	c.615G>A	CCDS9615.1																																																																																				0.557	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			216	455	0	0	0	1	0	216	455				
TCF12	6938	broad.mit.edu	37	15	57355950	57355950	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:57355950A>T	ENST00000267811.5	+	4	455	c.151A>T	c.(151-153)Att>Ttt	p.I51F	TCF12_ENST00000438423.2_Missense_Mutation_p.I51F|TCF12_ENST00000557843.1_Missense_Mutation_p.I51F|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000333725.5_Missense_Mutation_p.I51F	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	51					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CTTTTTAGGTATTGATGAAAG	0.353			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(151-153)Att>Ttt		transcription factor 12							131.0	131.0	131.0					15																	57355950		2192	4292	6484	SO:0001583	missense	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57355950A>T	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.151A>T	15.37:g.57355950A>T	ENSP00000267811:p.Ile51Phe		Somatic				TCF12_ENST00000333725.5_Missense_Mutation_p.I51F|TCF12_ENST00000438423.2_Missense_Mutation_p.I51F|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000557843.1_Missense_Mutation_p.I51F	p.I51F	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	WXS	Illumina GAIIx	Phase_I	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	4	455	+		Colorectal(260;0.0907)	51					Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	c.151A>T	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021383	0.54576	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000333725	T;T;T	0.14640	2.49;2.5;2.5	5.8	5.8	0.92144	.	0.129845	0.64402	D	0.000002	T	0.12305	0.0299	L	0.29908	0.895	0.80722	D	1	B;B;B	0.19583	0.018;0.037;0.018	B;B;B	0.16289	0.015;0.004;0.01	T	0.03587	-1.1022	10	0.62326	D	0.03	-0.4423	13.9021	0.63812	1.0:0.0:0.0:0.0	.	103;51;51	F5H6Z6;Q99081;Q99081-3	.;HTF4_HUMAN;.	F	103;51;51;51	ENSP00000267811:I51F;ENSP00000388940:I51F;ENSP00000331057:I51F	ENSP00000267811:I51F	I	+	1	0	TCF12	55143242	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.011000	0.57124	2.213000	0.71641	0.477000	0.44152	ATT		0.353	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		5	279	0	0	0	1	0	5	279				
E2F7	144455	broad.mit.edu	37	12	77417920	77417920	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:77417920C>T	ENST00000322886.7	-	13	2846	c.2611G>A	c.(2611-2613)Gag>Aag	p.E871K	E2F7_ENST00000416496.2_Silent_p.*729*	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	871					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AAAAACGTCTCACGATGTGTG	0.478																																						ENST00000322886.7																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(2611-2613)Gag>Aag		E2F transcription factor 7							96.0	88.0	91.0					12																	77417920		2203	4300	6503	SO:0001583	missense	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77417920C>T	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.2611G>A	12.37:g.77417920C>T	ENSP00000323246:p.Glu871Lys		Somatic				E2F7_ENST00000416496.2_Silent_p.*729*	p.E871K	NM_203394.2	NP_976328.2	WXS	Illumina GAIIx	Phase_I	Q96AV8	E2F7_HUMAN			13	2846	-			871					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	c.2611G>A	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672182	0.67928	.	.	ENSG00000165891	ENST00000322886;ENST00000339887	T	0.19938	2.11	6.17	6.17	0.99709	.	0.299068	0.32819	N	0.005601	T	0.36524	0.0970	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.01309	-1.1389	10	0.45353	T	0.12	-20.2588	18.0354	0.89301	0.0:1.0:0.0:0.0	.	871	Q96AV8	E2F7_HUMAN	K	871;342	ENSP00000323246:E871K	ENSP00000323246:E871K	E	-	1	0	E2F7	75942051	0.998000	0.40836	0.831000	0.32960	0.033000	0.12548	4.770000	0.62309	2.941000	0.99782	0.655000	0.94253	GAG		0.478	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		29	108	0	0	0	1	0	29	108				
ALOX12B	242	broad.mit.edu	37	17	7990740	7990740	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:7990740C>T	ENST00000319144.4	-	1	281	c.21G>A	c.(19-21)agG>agA	p.R7R	MIR4314_ENST00000583321.1_RNA	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	7	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.R7R(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CTGTGGCCACCCTGACTTTGT	0.602										Multiple Myeloma(8;0.094)																												ENST00000319144.4																			1	Substitution - coding silent(1)	p.R7R(1)	kidney(1)	endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(19-21)agG>agA		arachidonate 12-lipoxygenase, 12R type							152.0	121.0	132.0					17																	7990740		2203	4300	6503	SO:0001819	synonymous_variant	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7990740C>T	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.21G>A	17.37:g.7990740C>T		Multiple Myeloma(8;0.094)	Somatic					p.R7R	NM_001139.2	NP_001130.1	WXS	Illumina GAIIx	Phase_I	O75342	LX12B_HUMAN			1	281	-			7			PLAT.			Silent	SNP	ENST00000319144.4	37	c.21G>A	CCDS11129.1																																																																																				0.602	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			48	55	0	0	0	1	0	48	55				
AP2A1	160	broad.mit.edu	37	19	50303388	50303388	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:50303388C>T	ENST00000359032.5	+	11	1436	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V	AP2A1_ENST00000354293.5_Missense_Mutation_p.A479V	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	479					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.A479G(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CAGGGCTATGCCGCCAAGACC	0.612																																						ENST00000354293.5																			2	Substitution - Missense(2)	p.A479G(2)	lung(2)	cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19						c.(1435-1437)gCc>gTc		adaptor-related protein complex 2, alpha 1 subunit							70.0	78.0	75.0					19																	50303388		2149	4241	6390	SO:0001583	missense	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50303388C>T	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1436C>T	19.37:g.50303388C>T	ENSP00000351926:p.Ala479Val		Somatic				AP2A1_ENST00000359032.5_Missense_Mutation_p.A479V	p.A479V	NM_130787.2	NP_570603.2	WXS	Illumina GAIIx	Phase_I	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	11	1602	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	479					Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	37	c.1436C>T	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733133	0.89482	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.38560	1.13;1.13	4.65	4.65	0.58169	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.70716	0.916;0.97	T	0.74414	-0.3673	10	0.72032	D	0.01	.	16.4522	0.83994	0.0:1.0:0.0:0.0	.	479;479	O95782-2;O95782	.;AP2A1_HUMAN	V	479	ENSP00000346246:A479V;ENSP00000351926:A479V	ENSP00000346246:A479V	A	+	2	0	AP2A1	54995200	1.000000	0.71417	0.640000	0.29408	0.866000	0.49608	7.582000	0.82546	2.400000	0.81607	0.462000	0.41574	GCC		0.612	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			3	75	0	0	0	1	0	3	75				
TMCC3	57458	broad.mit.edu	37	12	94965355	94965355	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:94965355G>A	ENST00000261226.4	-	4	1421	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S	TMCC3_ENST00000551457.1_Silent_p.S399S	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	430						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TCGCGATGGTGGACACACACA	0.493																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(1288-1290)tcC>tcT		transmembrane and coiled-coil domain family 3							250.0	226.0	234.0					12																	94965355		2203	4300	6503	SO:0001819	synonymous_variant	57458					integral to membrane		g.chr12:94965355G>A	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1290C>T	12.37:g.94965355G>A			Somatic				TMCC3_ENST00000551457.1_Silent_p.S399S	p.S430S	NM_020698.2	NP_065749.2	WXS	Illumina GAIIx	Phase_I	Q9ULS5	TMCC3_HUMAN			4	1421	-			430					Q8IWB2	Silent	SNP	ENST00000261226.4	37	c.1290C>T	CCDS31877.1																																																																																				0.493	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		140	767	0	0	0	1	0	140	767				
COBLL1	22837	broad.mit.edu	37	2	165551753	165551753	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:165551753G>A	ENST00000392717.2	-	13	2381	c.2377C>T	c.(2377-2379)Cct>Tct	p.P793S	COBLL1_ENST00000342193.4_Missense_Mutation_p.P755S|COBLL1_ENST00000194871.6_Missense_Mutation_p.P822S|COBLL1_ENST00000375458.2_Missense_Mutation_p.P717S|COBLL1_ENST00000409184.3_Missense_Mutation_p.P755S			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	793						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCATTTGAAGGTTTTGGCTTG	0.373																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2149-2151)Cct>Tct		cordon-bleu WH2 repeat protein-like 1							193.0	195.0	194.0					2																	165551753		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551753G>A	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2377C>T	2.37:g.165551753G>A	ENSP00000376478:p.Pro793Ser		Somatic				COBLL1_ENST00000194871.6_Missense_Mutation_p.P822S|COBLL1_ENST00000409184.3_Missense_Mutation_p.P755S|COBLL1_ENST00000392717.2_Missense_Mutation_p.P793S|COBLL1_ENST00000342193.4_Missense_Mutation_p.P755S	p.P717S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	WXS	Illumina GAIIx	Phase_I	Q53SF7	COBL1_HUMAN			11	2370	-			793					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2149C>T		.	.	.	.	.	.	.	.	.	.	G	24.4	4.530086	0.85706	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000001	T	0.78521	0.4296	L	0.59436	1.845	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.77918	-0.2408	9	0.72032	D	0.01	-17.9406	20.5752	0.99366	0.0:0.0:1.0:0.0	.	793;822;755	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	S	717;755;755;793;822	.	ENSP00000194871:P822S	P	-	1	0	COBLL1	165259999	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.416000	0.90244	2.868000	0.98415	0.557000	0.71058	CCT		0.373	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		4	239	0	0	0	1	0	4	239				
SP3	6670	broad.mit.edu	37	2	174783515	174783515	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:174783515T>A	ENST00000310015.6	-	5	2170		c.e5-2		SP3_ENST00000455789.2_Splice_Site|SP3_ENST00000418194.2_Splice_Site	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor						B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TCCTAATATCTAAAGGGAAAA	0.398																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.e5-2		Sp3 transcription factor							41.0	41.0	41.0					2																	174783515		2203	4299	6502	SO:0001630	splice_region_variant	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174783515T>A	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1640-2A>T	2.37:g.174783515T>A			Somatic				SP3_ENST00000418194.2_Splice_Site|SP3_ENST00000455789.2_Splice_Site		NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	WXS	Illumina GAIIx	Phase_I	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		5	2170	-								A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Splice_Site	SNP	ENST00000310015.6	37		CCDS2254.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.762516	0.69763	.	.	ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194;ENST00000416195	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1413	0.81528	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SP3	174491761	1.000000	0.71417	0.998000	0.56505	0.693000	0.40251	7.655000	0.83696	2.270000	0.75569	0.482000	0.46254	.		0.398	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111	Intron	4	39	0	0	0	1	0	4	39				
HLA-F	3134	broad.mit.edu	37	6	29693797	29693797	+	Missense_Mutation	SNP	G	G	A	rs377232421		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:29693797G>A	ENST00000376861.1	+	7	1397	c.1013G>A	c.(1012-1014)aGa>aAa	p.R338K	HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000334668.4_Missense_Mutation_p.R338K|HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000434407.2_Missense_Mutation_p.R246K|HLA-F_ENST00000259951.7_Missense_Mutation_p.R338K			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	338					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GATAGAAACAGAGGGAGCTAC	0.517																																						ENST00000376861.1																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(1012-1014)aGa>aAa		major histocompatibility complex, class I, F							69.0	73.0	72.0					6																	29693797		2203	4300	6503	SO:0001583	missense	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29693797G>A	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.1013G>A	6.37:g.29693797G>A	ENSP00000366057:p.Arg338Lys		Somatic				HLA-F_ENST00000259951.7_Missense_Mutation_p.R338K|HLA-F_ENST00000334668.4_Missense_Mutation_p.R338K|HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000434407.2_Missense_Mutation_p.R246K|HLA-F_ENST00000475996.1_Intron	p.R338K			WXS	Illumina GAIIx	Phase_I	P30511	HLAF_HUMAN			7	1397	+			338					Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.1013G>A	CCDS43438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	9.764|9.764	1.170952|1.170952	0.21621|0.21621	.|.	.|.	ENSG00000204642|ENSG00000204642	ENST00000429294;ENST00000444621|ENST00000376861;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000399258;ENST00000434407	.|T;T;T;T	.|0.00653	.|5.96;5.96;6.0;6.07	1.92|1.92	0.806|0.806	0.18708|0.18708	.|.	.|.	.|.	.|.	.|.	T|T	0.00271|0.00271	0.0008|0.0008	L|L	0.47190|0.47190	1.495|1.495	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.33379	.|0.41;0.013;0.023;0.072	.|B;B;B;B	.|0.29598	.|0.104;0.005;0.01;0.01	T|T	0.44081|0.44081	-0.9351|-0.9351	5|9	.|0.72032	.|D	.|0.01	.|.	4.7941|4.7941	0.13263|0.13263	0.0:0.0:0.6365:0.3635|0.0:0.0:0.6365:0.3635	.|.	.|338;338;338;246	.|A8MVU7;P30511;P30511-3;P30511-2	.|.;HLAF_HUMAN;.;.	K|K	217;20|338;315;338;338;252;246	.|ENSP00000366057:R338K;ENSP00000334263:R338K;ENSP00000259951:R338K;ENSP00000397376:R246K	.|ENSP00000259951:R338K	E|R	+|+	1|2	0|0	HLA-F|HLA-F	29801776|29801776	0.002000|0.002000	0.14202|0.14202	0.005000|0.005000	0.12908|0.12908	0.034000|0.034000	0.12701|0.12701	0.686000|0.686000	0.25392|0.25392	1.046000|1.046000	0.40249|0.40249	0.436000|0.436000	0.28706|0.28706	GAG|AGA		0.517	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		12	158	0	0	0	1	0	12	158				
ZGRF1	55345	broad.mit.edu	37	4	113540573	113540573	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:113540573C>T	ENST00000505019.1	-	6	750	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	C4orf21_ENST00000309071.5_Missense_Mutation_p.E209K|C4orf21_ENST00000445203.2_Missense_Mutation_p.E178K	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		209						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TAATTTTCTTCACACAGCACT	0.398																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(625-627)Gaa>Aaa		chromosome 4 open reading frame 21							42.0	46.0	45.0					4																	113540573		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113540573C>T																												ENST00000505019.1:c.625G>A	4.37:g.113540573C>T	ENSP00000424737:p.Glu209Lys		Somatic				C4orf21_ENST00000445203.2_Missense_Mutation_p.E178K|C4orf21_ENST00000309071.5_Missense_Mutation_p.E209K	p.E209K	NM_018392.4	NP_060862.3	WXS	Illumina GAIIx	Phase_I	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	750	-		Ovarian(17;0.156)	209					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.625G>A		.	.	.	.	.	.	.	.	.	.	C	13.62	2.292661	0.40594	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.83075	-1.68;1.82;1.41	5.17	4.31	0.51392	.	0.696409	0.13520	N	0.381752	T	0.72724	0.3496	L	0.43757	1.38	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.12156	0.006;0.007	T	0.56329	-0.7997	10	0.18710	T	0.47	-1.4228	4.138	0.10179	0.1858:0.6112:0.0:0.203	.	209;209	Q86YA3;G5EA02	CD021_HUMAN;.	K	209;209;178	ENSP00000424737:E209K;ENSP00000309095:E209K;ENSP00000390505:E178K	ENSP00000309095:E209K	E	-	1	0	C4orf21	113760022	0.000000	0.05858	0.020000	0.16555	0.467000	0.32768	0.094000	0.15107	1.138000	0.42230	0.591000	0.81541	GAA		0.398	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			3	32	0	0	0	1	0	3	32				
HDAC1	3065	broad.mit.edu	37	1	32796451	32796451	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:32796451C>T	ENST00000373548.3	+	9	1005	c.921C>T	c.(919-921)aaC>aaT	p.N307N	HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Silent_p.N114N	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	307	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.N307N(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	CCATTCGTAACGTTGCCCGGT	0.567																																						ENST00000373548.3																			1	Substitution - coding silent(1)	p.N307N(1)	kidney(1)	NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(919-921)aaC>aaT		histone deacetylase 1	Vorinostat(DB02546)						149.0	123.0	132.0					1																	32796451		2203	4300	6503	SO:0001819	synonymous_variant	3065				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity	g.chr1:32796451C>T	D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.921C>T	1.37:g.32796451C>T			Somatic				HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Silent_p.N114N	p.N307N	NM_004964.2	NP_004955.2	WXS	Illumina GAIIx	Phase_I	Q13547	HDAC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	9	1005	+		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)	307			Histone deacetylase.		Q92534	Silent	SNP	ENST00000373548.3	37	c.921C>T	CCDS360.1																																																																																				0.567	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019815.3	NM_004964		64	138	0	0	0	1	0	64	138				
ZGRF1	55345	broad.mit.edu	37	4	113540507	113540507	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:113540507C>T	ENST00000505019.1	-	6	816	c.691G>A	c.(691-693)Gag>Aag	p.E231K	C4orf21_ENST00000309071.5_Missense_Mutation_p.E231K|C4orf21_ENST00000445203.2_Missense_Mutation_p.E200K	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		231						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTCACAGGCTCATTGGTCAGT	0.393																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(691-693)Gag>Aag		chromosome 4 open reading frame 21							63.0	65.0	64.0					4																	113540507		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113540507C>T																												ENST00000505019.1:c.691G>A	4.37:g.113540507C>T	ENSP00000424737:p.Glu231Lys		Somatic				C4orf21_ENST00000445203.2_Missense_Mutation_p.E200K|C4orf21_ENST00000309071.5_Missense_Mutation_p.E231K	p.E231K	NM_018392.4	NP_060862.3	WXS	Illumina GAIIx	Phase_I	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	816	-		Ovarian(17;0.156)	231					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.691G>A		.	.	.	.	.	.	.	.	.	.	C	14.67	2.604633	0.46423	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.84730	-1.89;1.62;1.22	4.77	2.78	0.32641	.	0.378699	0.22080	N	0.064912	T	0.81903	0.4921	M	0.67953	2.075	0.09310	N	1	B;B	0.17038	0.02;0.008	B;B	0.15870	0.014;0.009	T	0.72909	-0.4149	10	0.46703	T	0.11	-3.7491	10.4544	0.44542	0.0:0.8276:0.0:0.1724	.	231;231	Q86YA3;G5EA02	CD021_HUMAN;.	K	231;231;200	ENSP00000424737:E231K;ENSP00000309095:E231K;ENSP00000390505:E200K	ENSP00000309095:E231K	E	-	1	0	C4orf21	113759956	0.002000	0.14202	0.011000	0.14972	0.159000	0.22180	1.349000	0.33998	0.968000	0.38212	0.591000	0.81541	GAG		0.393	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			6	70	0	0	0	1	0	6	70				
TBC1D2B	23102	broad.mit.edu	37	15	78316739	78316739	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:78316739C>T	ENST00000300584.3	-	6	1228	c.1229G>A	c.(1228-1230)aGc>aAc	p.S410N	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.S410N	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	410							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CTCCAGCTGGCTGGTAAGGCC	0.542																																						ENST00000409931.3																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1228-1230)aGc>aAc		TBC1 domain family, member 2B							156.0	154.0	155.0					15																	78316739		2196	4293	6489	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78316739C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1229G>A	15.37:g.78316739C>T	ENSP00000300584:p.Ser410Asn		Somatic				TBC1D2B_ENST00000300584.3_Missense_Mutation_p.S410N	p.S410N			WXS	Illumina GAIIx	Phase_I	Q9UPU7	TBD2B_HUMAN			6	1300	-			410					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.1229G>A	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.29|11.29	1.595803|1.595803	0.28445|0.28445	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039|ENST00000409931;ENST00000300584	.|T;T	.|0.08370	.|3.1;3.1	5.7|5.7	3.84|3.84	0.44239|0.44239	.|.	.|0.391798	.|0.33438	.|N	.|0.004906	T|T	0.04679|0.04679	0.0127|0.0127	N|N	0.17474|0.17474	0.49|0.49	0.21355|0.21355	N|N	0.999715|0.999715	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.43410|0.43410	-0.9393|-0.9393	5|10	.|0.17832	.|T	.|0.49	.|.	7.3286|7.3286	0.26569|0.26569	0.0:0.6666:0.0:0.3334|0.0:0.6666:0.0:0.3334	.|.	.|410;410	.|Q9UPU7-2;Q9UPU7	.|.;TBD2B_HUMAN	T|N	292|410	.|ENSP00000387165:S410N;ENSP00000300584:S410N	.|ENSP00000300584:S410N	A|S	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76103794|76103794	1.000000|1.000000	0.71417|0.71417	0.473000|0.473000	0.27253|0.27253	0.990000|0.990000	0.78478|0.78478	2.804000|2.804000	0.47931|0.47931	0.768000|0.768000	0.33290|0.33290	0.491000|0.491000	0.48974|0.48974	GCC|AGC		0.542	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		98	656	0	0	0	1	0	98	656				
TBC1D15	64786	broad.mit.edu	37	12	72265848	72265848	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:72265848A>T	ENST00000550746.1	+	2	94		c.e2-1		TBC1D15_ENST00000319106.8_Splice_Site|TBC1D15_ENST00000393309.3_Splice_Site|TBC1D15_ENST00000485960.2_Splice_Site	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15						positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGCTGTTTTAGATTATATAT	0.279																																						ENST00000550746.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e2-1		TBC1 domain family, member 15							72.0	75.0	74.0					12																	72265848		2203	4290	6493	SO:0001630	splice_region_variant	64786						protein binding|Rab GTPase activator activity	g.chr12:72265848A>T	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.31-1A>T	12.37:g.72265848A>T			Somatic				TBC1D15_ENST00000393309.3_Splice_Site|TBC1D15_ENST00000319106.8_Splice_Site|TBC1D15_ENST00000485960.2_Splice_Site		NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	WXS	Illumina GAIIx	Phase_I	Q8TC07	TBC15_HUMAN			2	94	+								B4DMT9|B9A6L6|J3KNI9|Q9HA83	Splice_Site	SNP	ENST00000550746.1	37		CCDS31858.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626095	0.66901	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2478	0.73521	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBC1D15	70552115	1.000000	0.71417	0.927000	0.36925	0.879000	0.50718	7.086000	0.76885	2.146000	0.66826	0.459000	0.35465	.		0.279	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771	Intron	4	78	0	0	0	1	0	4	78				
TXNDC15	79770	broad.mit.edu	37	5	134232036	134232036	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:134232036G>C	ENST00000358387.4	+	4	1433	c.808G>C	c.(808-810)Gga>Cga	p.G270R	TXNDC15_ENST00000546290.1_Missense_Mutation_p.G247R	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	270	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.G270R(1)|p.G270>?(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTATTTCAAGGAGCTAAACC	0.353																																						ENST00000358387.4																			2	Substitution - Missense(1)|Complex(1)	p.G270R(1)|p.G270>?(1)	kidney(2)	breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17						c.(808-810)Gga>Cga		thioredoxin domain containing 15							106.0	107.0	107.0					5																	134232036		2203	4300	6503	SO:0001583	missense	79770				cell redox homeostasis	integral to membrane		g.chr5:134232036G>C	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.808G>C	5.37:g.134232036G>C	ENSP00000351157:p.Gly270Arg		Somatic				TXNDC15_ENST00000546290.1_Missense_Mutation_p.G247R	p.G270R	NM_024715.3	NP_078991.3	WXS	Illumina GAIIx	Phase_I	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	1433	+			270			Thioredoxin.		D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	c.808G>C	CCDS4180.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	33|33|33	5.205556|5.205556|5.205556	0.95033|0.95033|0.95033	.|.|.	.|.|.	ENSG00000113621|ENSG00000113621|ENSG00000113621	ENST00000441965;ENST00000358387;ENST00000546290|ENST00000508779|ENST00000509954	T;T|.|.	0.23348|.|.	1.91;1.91|.|.	6.17|6.17|6.17	6.17|6.17|6.17	0.99709|0.99709|0.99709	Thioredoxin domain (1);Thioredoxin-like fold (3);|.|.	0.046839|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.78515|0.78515|0.78515	0.4295|0.4295|0.4295	M|M|M	0.75085|0.75085|0.75085	2.285|2.285|2.285	0.80722|0.80722|0.80722	D|D|D	1|1|1	D|.|.	0.89917|.|.	1.0|.|.	D|.|.	0.97110|.|.	1.0|.|.	T|T|T	0.75311|0.75311|0.75311	-0.3362|-0.3362|-0.3362	10|5|5	0.62326|.|.	D|.|.	0.03|.|.	-17.238|-17.238|-17.238	20.8794|20.8794|20.8794	0.99867|0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	270|.|.	Q96J42|.|.	TXD15_HUMAN|.|.	R|N|T	254;270;247|253|24	ENSP00000351157:G270R;ENSP00000443942:G247R|.|.	ENSP00000351157:G270R|.|.	G|K|R	+|+|+	1|3|2	0|2|0	TXNDC15|TXNDC15|TXNDC15	134259935|134259935|134259935	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	9.476000|9.476000|9.476000	0.97823|0.97823|0.97823	2.941000|2.941000|2.941000	0.99782|0.99782|0.99782	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGA|AAG|AGG		0.353	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		44	79	0	0	0	1	0	44	79				
ATP4A	495	broad.mit.edu	37	19	36047923	36047923	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:36047923C>T	ENST00000262623.3	-	12	1789	c.1761G>A	c.(1759-1761)atG>atA	p.M587I		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	587					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	ATGGAAAGTTCATGGCCTCTA	0.592																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(1759-1761)atG>atA		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						81.0	75.0	77.0					19																	36047923		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36047923C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1761G>A	19.37:g.36047923C>T	ENSP00000262623:p.Met587Ile		Somatic					p.M587I	NM_000704.2	NP_000695.2	WXS	Illumina GAIIx	Phase_I	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		12	1789	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		587					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.1761G>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032004	0.35893	.	.	ENSG00000105675	ENST00000262623	T	0.78364	-1.17	5.14	4.05	0.47172	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	N	0.02751	-0.505	0.43890	D	0.996515	B	0.20550	0.046	B	0.32928	0.155	T	0.55560	-0.8122	10	0.27785	T	0.31	.	12.9505	0.58399	0.1616:0.8384:0.0:0.0	.	587	P20648	ATP4A_HUMAN	I	587	ENSP00000262623:M587I	ENSP00000262623:M587I	M	-	3	0	ATP4A	40739763	0.997000	0.39634	1.000000	0.80357	0.643000	0.38383	0.545000	0.23268	2.672000	0.90937	0.591000	0.81541	ATG		0.592	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		12	276	0	0	0	1	0	12	276				
RAI2	10742	broad.mit.edu	37	X	17820079	17820079	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:17820079G>A	ENST00000545871.1	-	3	512	c.52C>T	c.(52-54)Cct>Tct	p.P18S	RAI2_ENST00000331511.1_Missense_Mutation_p.P18S|RAI2_ENST00000451717.1_Missense_Mutation_p.P18S|RAI2_ENST00000415486.3_Missense_Mutation_p.P18S|RAI2_ENST00000360011.1_Missense_Mutation_p.P18S	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	18					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GCCAAGGCAGGAGGGGAGTCA	0.532																																						ENST00000545871.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(52-54)Cct>Tct		retinoic acid induced 2							145.0	135.0	139.0					X																	17820079		2203	4300	6503	SO:0001583	missense	10742				embryo development			g.chrX:17820079G>A	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.52C>T	X.37:g.17820079G>A	ENSP00000444210:p.Pro18Ser		Somatic				RAI2_ENST00000331511.1_Missense_Mutation_p.P18S|RP3-389A20.4_ENST00000509491.2_Missense_Mutation_p.P18S|RAI2_ENST00000451717.1_Missense_Mutation_p.P18S|RAI2_ENST00000415486.3_Missense_Mutation_p.P18S|RAI2_ENST00000360011.1_Missense_Mutation_p.P18S	p.P18S	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	WXS	Illumina GAIIx	Phase_I	Q9Y5P3	RAI2_HUMAN			3	512	-	Hepatocellular(33;0.183)		18					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	c.52C>T	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464952	0.26335	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.59	5.6	5.6	0.85130	.	0.231816	0.36167	N	0.002754	T	0.12135	0.0295	N	0.08118	0	0.21256	N	0.999746	B;B	0.20887	0.049;0.049	B;B	0.21151	0.033;0.033	T	0.34925	-0.9809	10	0.07644	T	0.81	-11.6364	4.7748	0.13173	0.2119:0.1742:0.6139:0.0	.	18;18	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	S	18	ENSP00000333456:P18S;ENSP00000353106:P18S;ENSP00000444210:P18S;ENSP00000401323:P18S;ENSP00000392578:P18S	ENSP00000333456:P18S	P	-	1	0	RAI2	17730000	1.000000	0.71417	0.897000	0.35233	0.861000	0.49209	3.299000	0.51826	2.362000	0.80069	0.529000	0.55759	CCT		0.532	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		44	853	0	0	0	1	0	44	853				
MIER1	57708	broad.mit.edu	37	1	67450321	67450321	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:67450321T>G	ENST00000355356.3	+	13	1426	c.1277T>G	c.(1276-1278)aTt>aGt	p.I426S	MIER1_ENST00000401042.3_Intron|MIER1_ENST00000371016.1_Intron|MIER1_ENST00000371018.3_Missense_Mutation_p.I443S|MIER1_ENST00000371014.1_Intron|MIER1_ENST00000357692.2_Missense_Mutation_p.I443S|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000401041.1_Missense_Mutation_p.I479S	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	426					positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.I479S(1)|p.I426S(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						GGGTTACACATTAATGGACCA	0.353																																						ENST00000357692.2																			2	Substitution - Missense(2)	p.I479S(1)|p.I426S(1)	kidney(2)	breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						c.(1327-1329)aTt>aGt		mesoderm induction early response 1, transcriptional regulator							115.0	109.0	111.0					1																	67450321		1839	4094	5933	SO:0001583	missense	57708				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr1:67450321T>G		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.1277T>G	1.37:g.67450321T>G	ENSP00000347514:p.Ile426Ser		Somatic				MIER1_ENST00000401041.1_Missense_Mutation_p.I479S|MIER1_ENST00000401042.3_Intron|MIER1_ENST00000371016.1_Intron|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000371014.1_Intron|MIER1_ENST00000371018.3_Missense_Mutation_p.I443S|MIER1_ENST00000355356.3_Missense_Mutation_p.I426S	p.I443S	NM_001146110.1	NP_001139582.1	WXS	Illumina GAIIx	Phase_I	Q8N108	MIER1_HUMAN			15	1585	+			450					C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	ENST00000355356.3	37	c.1328T>G	CCDS41348.1	.	.	.	.	.	.	.	.	.	.	T	8.935	0.964448	0.18583	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000357692;ENST00000401041;ENST00000355356	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.58	5.58	0.84498	.	0.790343	0.12580	N	0.456518	T	0.14874	0.0359	N	0.22421	0.69	0.36447	D	0.865831	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.001	T	0.02901	-1.1096	10	0.07030	T	0.85	-28.6393	11.9259	0.52819	0.0:0.0698:0.0:0.9302	.	443;426;450;443;479	Q32NC4;Q8N108-3;Q8N108;Q8N108-10;Q5TAD5	.;.;MIER1_HUMAN;.;.	S	447;443;443;479;426	ENSP00000360057:I443S;ENSP00000350321:I443S;ENSP00000383820:I479S;ENSP00000347514:I426S	ENSP00000347514:I426S	I	+	2	0	MIER1	67222909	0.003000	0.15002	0.195000	0.23364	0.823000	0.46562	1.424000	0.34848	2.248000	0.74166	0.528000	0.53228	ATT		0.353	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948		41	66	0	0	0	1	0	41	66				
LAMB1	3912	broad.mit.edu	37	7	107618592	107618592	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:107618592G>A	ENST00000222399.6	-	9	1130	c.900C>T	c.(898-900)tgC>tgT	p.C300C	LAMB1_ENST00000393561.1_Silent_p.C324C|LAMB1_ENST00000393560.1_Silent_p.C300C	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	300	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TGTTATGCCTGCACATGCAGT	0.418																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(970-972)tgC>tgT		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						149.0	142.0	145.0					7																	107618592		2203	4300	6503	SO:0001819	synonymous_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107618592G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.900C>T	7.37:g.107618592G>A			Somatic				LAMB1_ENST00000393560.1_Silent_p.C300C|LAMB1_ENST00000222399.6_Silent_p.C300C	p.C324C			WXS	Illumina GAIIx	Phase_I	P07942	LAMB1_HUMAN			7	1156	-			300			Laminin EGF-like 1.		Q14D91	Silent	SNP	ENST00000222399.6	37	c.972C>T	CCDS5750.1																																																																																				0.418	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		5	519	0	0	0	1	0	5	519				
PCDHGB3	56102	broad.mit.edu	37	5	140751901	140751901	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:140751901G>A	ENST00000576222.1	+	1	2071	c.1940G>A	c.(1939-1941)cGt>cAt	p.R647H	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	647	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACTGTGCGTGATGGAGGA	0.647																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1939-1941)cGt>cAt									46.0	52.0	50.0					5																	140751901		2115	4243	6358	SO:0001583	missense	56102							g.chr5:140751901G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1940G>A	5.37:g.140751901G>A	ENSP00000461862:p.Arg647His		Somatic				PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.R647H	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2071	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1940G>A	CCDS58980.1																																																																																				0.647	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		11	63	0	0	0	1	0	11	63				
INPP5D	3635	broad.mit.edu	37	2	234072504	234072504	+	Silent	SNP	C	C	T	rs567362809		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:234072504C>T	ENST00000359570.5	+	14	1356	c.1356C>T	c.(1354-1356)atC>atT	p.I452I	INPP5D_ENST00000450745.1_Silent_p.I216I|INPP5D_ENST00000538935.1_Silent_p.I451I|INPP5D_ENST00000455936.2_Silent_p.I216I			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	464					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GGCTGGAGATCCTCAAACACT	0.552																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(1354-1356)atC>atT		inositol polyphosphate-5-phosphatase, 145kDa							68.0	73.0	71.0					2																	234072504		2012	4162	6174	SO:0001819	synonymous_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234072504C>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1356C>T	2.37:g.234072504C>T			Somatic				INPP5D_ENST00000455936.2_Silent_p.I216I|INPP5D_ENST00000538935.1_Silent_p.I451I|INPP5D_ENST00000450745.1_Silent_p.I216I	p.I452I			WXS	Illumina GAIIx	Phase_I	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	14	1356	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	464					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	ENST00000359570.5	37	c.1356C>T																																																																																					0.552	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		5	222	0	0	0	1	0	5	222				
AHCY	191	broad.mit.edu	37	20	32879280	32879280	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:32879280A>G	ENST00000217426.2	-	5	580	c.503T>C	c.(502-504)aTg>aCg	p.M168T	AHCY_ENST00000538132.1_Missense_Mutation_p.M140T|AHCY_ENST00000468908.1_5'UTR	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	168					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCCATTGGCCATCATCTTGTA	0.572																																						ENST00000538132.1																			0				endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(418-420)aTg>aCg		adenosylhomocysteinase							168.0	147.0	154.0					20																	32879280		2203	4300	6503	SO:0001583	missense	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32879280A>G	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.503T>C	20.37:g.32879280A>G	ENSP00000217426:p.Met168Thr		Somatic				AHCY_ENST00000468908.1_5'UTR|AHCY_ENST00000217426.2_Missense_Mutation_p.M168T	p.M140T	NM_001161766.1	NP_001155238.1	WXS	Illumina GAIIx	Phase_I	P23526	SAHH_HUMAN			5	805	-			168					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	ENST00000217426.2	37	c.419T>C	CCDS13233.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.459995	0.43736	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	T;T	0.75589	-0.95;-0.95	5.31	0.884	0.19182	.	0.401257	0.32328	N	0.006241	T	0.66607	0.2806	L	0.56396	1.775	0.28548	N	0.911751	B	0.02656	0.0	B	0.10450	0.005	T	0.59112	-0.7515	10	0.36615	T	0.2	.	10.5217	0.44922	0.3068:0.0:0.0:0.6932	.	168	P23526	SAHH_HUMAN	T	168;140	ENSP00000217426:M168T;ENSP00000442820:M140T	ENSP00000217426:M168T	M	-	2	0	AHCY	32342941	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.461000	0.45040	0.336000	0.23639	0.459000	0.35465	ATG		0.572	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		5	439	0	0	0	1	0	5	439				
GTF2H1	2965	broad.mit.edu	37	11	18357301	18357301	+	Splice_Site	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:18357301G>T	ENST00000265963.4	+	3	315	c.155G>T	c.(154-156)tGc>tTc	p.C52F	GTF2H1_ENST00000531757.1_3'UTR|GTF2H1_ENST00000524753.4_5'Flank|GTF2H1_ENST00000453096.2_Splice_Site_p.C52F|GTF2H1_ENST00000534641.1_Intron	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	52					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.C52F(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TTCTTTTTAGGCCAGAAAATT	0.423								Nucleotide excision repair (NER)																														ENST00000265963.4																			1	Substitution - Missense(1)	p.C52F(1)	kidney(1)	endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.e3-1	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 1, 62kDa							80.0	73.0	76.0					11																	18357301		2199	4293	6492	SO:0001630	splice_region_variant	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18357301G>T		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.155-1G>T	11.37:g.18357301G>T			Somatic				GTF2H1_ENST00000534641.1_Intron|GTF2H1_ENST00000531757.1_3'UTR|GTF2H1_ENST00000453096.2_Splice_Site_p.C52_splice	p.C52_splice	NM_005316.3	NP_005307.1	WXS	Illumina GAIIx	Phase_I	P32780	TF2H1_HUMAN			3	315	+			52					B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Splice_Site	SNP	ENST00000265963.4	37	c.154_splice	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801169	0.90538	.	.	ENSG00000110768	ENST00000453096;ENST00000525831;ENST00000265963	T;T	0.21932	1.98;1.98	5.75	5.75	0.90469	TFIIH p62 subunit, N-terminal (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.30885	0.0779	L	0.29908	0.895	0.80722	D	1	P	0.46987	0.888	P	0.54664	0.758	T	0.00548	-1.1677	9	.	.	.	.	19.9577	0.97228	0.0:0.0:1.0:0.0	.	52	P32780	TF2H1_HUMAN	F	52	ENSP00000393638:C52F;ENSP00000265963:C52F	.	C	+	2	0	GTF2H1	18313877	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.175000	0.94831	2.714000	0.92807	0.563000	0.77884	TGC		0.423	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316	Missense_Mutation	47	73	1	0	8.43867e-41	1	9.02469e-41	47	73				
RBM47	54502	broad.mit.edu	37	4	40428110	40428110	+	Silent	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:40428110A>G	ENST00000381793.2	-	6	1989	c.1593T>C	c.(1591-1593)atT>atC	p.I531I	RBM47_ENST00000381795.6_Silent_p.I462I|RBM47_ENST00000295971.7_Silent_p.I531I|RP11-588L15.2_ENST00000514187.1_RNA|RBM47_ENST00000514014.1_Silent_p.I493I|RBM47_ENST00000319592.4_Silent_p.I462I			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	531	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.I462I(2)|p.I531I(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGGCAGTAGGAATTCTCTGAA	0.562																																						ENST00000319592.4																			3	Substitution - coding silent(3)	p.I462I(2)|p.I531I(1)	kidney(3)	breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1384-1386)atT>atC		RNA binding motif protein 47							57.0	55.0	56.0					4																	40428110		2203	4300	6503	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40428110A>G	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1593T>C	4.37:g.40428110A>G			Somatic				RBM47_ENST00000514014.1_Silent_p.I493I|RBM47_ENST00000295971.7_Silent_p.I531I|RBM47_ENST00000381795.6_Silent_p.I462I|RBM47_ENST00000381793.2_Silent_p.I531I	p.I462I			WXS	Illumina GAIIx	Phase_I	A0AV96	RBM47_HUMAN			6	2095	-			531					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.1386T>C	CCDS43223.1																																																																																				0.562	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		31	144	0	0	0	1	0	31	144				
GON4L	54856	broad.mit.edu	37	1	155753882	155753882	+	Splice_Site	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:155753882T>G	ENST00000368331.1	-	14	1837		c.e14-2		GON4L_ENST00000437809.1_Splice_Site|GON4L_ENST00000471341.1_Splice_Site|GON4L_ENST00000361040.5_Splice_Site|GON4L_ENST00000271883.5_Splice_Site	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATCTTGGAACTGTGGGCAAAG	0.473																																						ENST00000437809.1																			3	Unknown(3)	p.?(3)	kidney(3)	NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.e14-2		gon-4-like (C. elegans)							127.0	105.0	112.0					1																	155753882		2203	4298	6501	SO:0001630	splice_region_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155753882T>G	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1789-2A>C	1.37:g.155753882T>G			Somatic				GON4L_ENST00000361040.5_Splice_Site|GON4L_ENST00000271883.5_Splice_Site|GON4L_ENST00000368331.1_Splice_Site|GON4L_ENST00000471341.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q3T8J9	GON4L_HUMAN			14	1911	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)							B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Splice_Site	SNP	ENST00000368331.1	37			.	.	.	.	.	.	.	.	.	.	T	16.61	3.171982	0.57584	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5988	0.56485	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GON4L	154020506	1.000000	0.71417	0.957000	0.39632	0.981000	0.71138	5.799000	0.69101	2.049000	0.60858	0.482000	0.46254	.		0.473	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	Intron	73	134	0	0	0	1	0	73	134				
BAZ2B	29994	broad.mit.edu	37	2	160295535	160295535	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:160295535A>T	ENST00000392783.2	-	7	1380	c.885T>A	c.(883-885)caT>caA	p.H295Q	BAZ2B_ENST00000392782.1_Missense_Mutation_p.H293Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.H293Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.H295Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGTTACTTTTATGTTGTGCTT	0.323																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(883-885)caT>caA		bromodomain adjacent to zinc finger domain, 2B							229.0	213.0	218.0					2																	160295535		1861	4088	5949	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160295535A>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.885T>A	2.37:g.160295535A>T	ENSP00000376534:p.His295Gln		Somatic				BAZ2B_ENST00000392782.1_Missense_Mutation_p.H293Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.H295Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.H293Q	p.H295Q	NM_013450.2	NP_038478.2	WXS	Illumina GAIIx	Phase_I	Q9UIF8	BAZ2B_HUMAN			7	1380	-			295					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.885T>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	A	10.66	1.412475	0.25465	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	5.25	1.12	0.20585	.	0.194727	0.24774	N	0.035710	T	0.07369	0.0186	L	0.51422	1.61	0.36073	D	0.842272	B;B;B;B;B;B	0.29136	0.005;0.001;0.234;0.002;0.002;0.001	B;B;B;B;B;B	0.32090	0.004;0.002;0.14;0.002;0.002;0.001	T	0.24584	-1.0156	10	0.49607	T	0.09	-6.8538	1.9947	0.03454	0.5273:0.1222:0.232:0.1185	.	293;232;295;293;293;295	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	Q	293;295;295;293;232	ENSP00000376533:H293Q;ENSP00000376534:H295Q;ENSP00000348087:H295Q;ENSP00000339670:H293Q	ENSP00000339670:H293Q	H	-	3	2	BAZ2B	160003781	0.996000	0.38824	0.997000	0.53966	0.997000	0.91878	0.516000	0.22817	-0.049000	0.13379	0.460000	0.39030	CAT		0.323	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			5	124	0	0	0	1	0	5	124				
SPZ1	84654	broad.mit.edu	37	5	79616637	79616637	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:79616637C>T	ENST00000296739.4	+	1	848	c.603C>T	c.(601-603)aaC>aaT	p.N201N		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	201	Basic motif. {ECO:0000255}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N201N(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		ACTCTGAGAACACCGCACAAG	0.353																																						ENST00000296739.4																			1	Substitution - coding silent(1)	p.N201N(1)	kidney(1)	endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(601-603)aaC>aaT		spermatogenic leucine zipper 1							70.0	64.0	66.0					5																	79616637		1826	4078	5904	SO:0001819	synonymous_variant	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616637C>T		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.603C>T	5.37:g.79616637C>T			Somatic					p.N201N	NM_032567.3	NP_115956.3	WXS	Illumina GAIIx	Phase_I	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	848	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	201					B2RA21|Q8N4P1|Q8N7E9	Silent	SNP	ENST00000296739.4	37	c.603C>T	CCDS43336.1																																																																																				0.353	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		31	81	0	0	0	1	0	31	81				
ADRA2A	150	broad.mit.edu	37	10	112838936	112838936	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:112838936C>T	ENST00000280155.2	+	1	2147	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	379					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGGCCGTGGTCATCGGAGTGT	0.662																																					Esophageal Squamous(173;605 2658 7278 49362)	ENST00000280155.2																			0				breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1180-1182)gtC>gtT		adrenoceptor alpha 2A	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)						139.0	111.0	121.0					10																	112838936		2203	4300	6503	SO:0001819	synonymous_variant	150				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	g.chr10:112838936C>T	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1182C>T	10.37:g.112838936C>T			Somatic					p.V394V	NM_000681.3	NP_000672.3	WXS	Illumina GAIIx	Phase_I	P08913	ADA2A_HUMAN		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	1	2147	+		Breast(234;0.0735)|Lung NSC(174;0.238)	379					B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	ENST00000280155.2	37	c.1182C>T	CCDS7569.2																																																																																				0.662	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		4	27	0	0	0	1	0	4	27				
TXNDC15	79770	broad.mit.edu	37	5	134232037	134232037	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:134232037G>A	ENST00000358387.4	+	4	1434	c.809G>A	c.(808-810)gGa>gAa	p.G270E	TXNDC15_ENST00000546290.1_Missense_Mutation_p.G247E	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	270	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.G270E(1)|p.G270>?(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTATTTCAAGGAGCTAAACCA	0.353																																						ENST00000358387.4																			2	Substitution - Missense(1)|Complex(1)	p.G270E(1)|p.G270>?(1)	kidney(2)	breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17						c.(808-810)gGa>gAa		thioredoxin domain containing 15							107.0	108.0	108.0					5																	134232037		2203	4300	6503	SO:0001583	missense	79770				cell redox homeostasis	integral to membrane		g.chr5:134232037G>A	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.809G>A	5.37:g.134232037G>A	ENSP00000351157:p.Gly270Glu		Somatic				TXNDC15_ENST00000546290.1_Missense_Mutation_p.G247E	p.G270E	NM_024715.3	NP_078991.3	WXS	Illumina GAIIx	Phase_I	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	1434	+			270			Thioredoxin.		D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	c.809G>A	CCDS4180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.752402|4.752402	0.89753|0.89753	.|.	.|.	ENSG00000113621|ENSG00000113621	ENST00000508779|ENST00000441965;ENST00000358387;ENST00000546290	.|T;T	.|0.21734	.|1.99;1.99	6.17|6.17	5.31|5.31	0.75309|0.75309	.|Thioredoxin domain (1);Thioredoxin-like fold (3);	.|0.046839	.|0.85682	.|N	.|0.000000	T|T	0.45155|0.45155	0.1328|0.1328	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.43669|0.43669	-0.9377|-0.9377	5|10	.|0.72032	.|D	.|0.01	-17.238|-17.238	15.7563|15.7563	0.78030|0.78030	0.065:0.0:0.935:0.0|0.065:0.0:0.935:0.0	.|.	.|270	.|Q96J42	.|TXD15_HUMAN	K|E	254|254;270;247	.|ENSP00000351157:G270E;ENSP00000443942:G247E	.|ENSP00000351157:G270E	E|G	+|+	1|2	0|0	TXNDC15|TXNDC15	134259936|134259936	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.476000|9.476000	0.97823|0.97823	1.626000|1.626000	0.50381|0.50381	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.353	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		44	80	0	0	0	1	0	44	80				
FSTL5	56884	broad.mit.edu	37	4	162463847	162463847	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:162463847T>A	ENST00000306100.5	-	9	1452		c.e9-2		FSTL5_ENST00000536695.1_Splice_Site|FSTL5_ENST00000379164.4_Splice_Site|FSTL5_ENST00000511170.1_Splice_Site|FSTL5_ENST00000427802.2_Splice_Site	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5							extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTGGAGGAACTAAAGGAAAAA	0.368																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.e9-2		follistatin-like 5							49.0	50.0	50.0					4																	162463847		2203	4299	6502	SO:0001630	splice_region_variant	56884					extracellular region	calcium ion binding	g.chr4:162463847T>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1016-2A>T	4.37:g.162463847T>A			Somatic				FSTL5_ENST00000379164.4_Splice_Site|FSTL5_ENST00000536695.1_Splice_Site|FSTL5_ENST00000511170.1_Splice_Site|FSTL5_ENST00000427802.2_Splice_Site		NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	WXS	Illumina GAIIx	Phase_I	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	9	1452	-	all_hematologic(180;0.24)							E9PCP6|Q9NSW7|Q9ULF7	Splice_Site	SNP	ENST00000306100.5	37		CCDS3802.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.344754	0.61073	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5866	0.68328	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FSTL5	162683297	1.000000	0.71417	0.917000	0.36280	0.629000	0.37895	7.698000	0.84413	2.100000	0.63781	0.460000	0.39030	.		0.368	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	Intron	4	92	0	0	0	1	0	4	92				
LARP1	23367	broad.mit.edu	37	5	154179286	154179286	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:154179286T>A	ENST00000336314.4	+	9	1306	c.1282T>A	c.(1282-1284)Ttt>Att	p.F428I		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	505	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.F505I(1)|p.F428I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTGCCCTGAATTTGTTCCCCG	0.517																																						ENST00000336314.4																			2	Substitution - Missense(2)	p.F505I(1)|p.F428I(1)	kidney(2)	breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1282-1284)Ttt>Att		La ribonucleoprotein domain family, member 1							159.0	156.0	157.0					5																	154179286		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154179286T>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1282T>A	5.37:g.154179286T>A	ENSP00000336721:p.Phe428Ile		Somatic					p.F428I	NM_015315.3	NP_056130.2	WXS	Illumina GAIIx	Phase_I	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		9	1306	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	505			HTH La-type RNA-binding.		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.1282T>A	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	T	34	5.348300	0.95807	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000523163;ENST00000518742	T;T;T;T;T	0.50813	1.75;1.26;1.32;0.77;0.73	6.09	6.09	0.99107	.	0.000000	0.85682	D	0.000000	T	0.68897	0.3051	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.982;0.994	T	0.66416	-0.5929	10	0.26408	T	0.33	-9.3982	16.6696	0.85262	0.0:0.0:0.0:1.0	.	505;428	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	I	428;505;300;213;112	ENSP00000336721:F428I;ENSP00000428589:F505I;ENSP00000429904:F300I;ENSP00000430438:F213I;ENSP00000431072:F112I	ENSP00000336721:F428I	F	+	1	0	LARP1	154159479	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.940000	0.87693	2.338000	0.79540	0.533000	0.62120	TTT		0.517	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		129	551	0	0	0	1	0	129	551				
RFX7	64864	broad.mit.edu	37	15	56387792	56387792	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:56387792C>T	ENST00000559447.2	-	9	2114	c.1843G>A	c.(1843-1845)Gct>Act	p.A615T	RFX7_ENST00000422057.1_Missense_Mutation_p.A615T|RFX7_ENST00000423270.1_Missense_Mutation_p.A712T|RFX7_ENST00000317318.6_Missense_Mutation_p.A712T			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	615					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGAATCTGAGCACCTGCTGTT	0.443																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2134-2136)Gct>Act		regulatory factor X, 7							119.0	109.0	112.0					15																	56387792		1926	4139	6065	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56387792C>T			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1843G>A	15.37:g.56387792C>T	ENSP00000453281:p.Ala615Thr		Somatic				RFX7_ENST00000559447.2_Missense_Mutation_p.A615T|RFX7_ENST00000317318.6_Missense_Mutation_p.A712T|RFX7_ENST00000422057.1_Missense_Mutation_p.A615T	p.A712T	NM_022841.5	NP_073752.5	WXS	Illumina GAIIx	Phase_I	Q2KHR2	RFX7_HUMAN			9	2133	-			615					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.2134G>A		.	.	.	.	.	.	.	.	.	.	C	16.32	3.089814	0.55968	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.55930	0.49;0.49;0.49	5.47	4.56	0.56223	.	0.000000	0.64402	D	0.000003	T	0.39226	0.1070	N	0.19112	0.55	0.45284	D	0.998281	P;P	0.42456	0.58;0.78	B;B	0.38106	0.196;0.265	T	0.42882	-0.9425	10	0.72032	D	0.01	-16.3271	14.8685	0.70437	0.1444:0.8555:0.0:0.0	.	615;615	Q2KHR2;C9JU50	RFX7_HUMAN;.	T	615;712;712	ENSP00000387504:A615T;ENSP00000313299:A712T;ENSP00000397644:A712T	ENSP00000313299:A712T	A	-	1	0	RFX7	54175084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.169000	0.42434	1.291000	0.44653	0.591000	0.81541	GCT		0.443	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		54	299	0	0	0	1	0	54	299				
FIZ1	84922	broad.mit.edu	37	19	56109181	56109181	+	Silent	SNP	G	G	A	rs189301284		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:56109181G>A	ENST00000221665.3	-	2	140	c.51C>T	c.(49-51)gcC>gcT	p.A17A	FIZ1_ENST00000592585.1_Silent_p.A17A|ZNF524_ENST00000301073.3_5'Flank	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	17					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)	p.A17A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCCTGGGGGCGGCAGCGGCGG	0.672													G|||	1	0.000199681	0.0	0.0014	5008	,	,		10693	0.0		0.0	False		,,,				2504	0.0					ENST00000221665.3																			1	Substitution - coding silent(1)	p.A17A(1)	kidney(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(49-51)gcC>gcT		FLT3-interacting zinc finger 1							17.0	18.0	18.0					19																	56109181		2200	4299	6499	SO:0001819	synonymous_variant	84922				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	g.chr19:56109181G>A	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.51C>T	19.37:g.56109181G>A			Somatic				FIZ1_ENST00000592585.1_Silent_p.A17A	p.A17A	NM_032836.2	NP_116225.2	WXS	Illumina GAIIx	Phase_I	Q96SL8	FIZ1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	2	140	-			17					A2RU72|Q6ZMJ7	Silent	SNP	ENST00000221665.3	37	c.51C>T	CCDS12928.1																																																																																				0.672	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836		6	14	0	0	0	1	0	6	14				
PNMA2	10687	broad.mit.edu	37	8	26366045	26366045	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:26366045G>A	ENST00000522362.2	-	3	1121	c.227C>T	c.(226-228)tCg>tTg	p.S76L	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	76					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gggaatggccgagacatcagt	0.473																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(226-228)tCg>tTg		paraneoplastic Ma antigen 2							73.0	73.0	73.0					8																	26366045		2203	4300	6503	SO:0001583	missense	10687				apoptosis	nucleolus	protein binding	g.chr8:26366045G>A		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.227C>T	8.37:g.26366045G>A	ENSP00000429344:p.Ser76Leu		Somatic					p.S76L	NM_007257.5	NP_009188.1	WXS	Illumina GAIIx	Phase_I	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1121	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	76					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	c.227C>T	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842215	0.32513	.	.	ENSG00000240694	ENST00000522362	T	0.13901	2.55	3.77	3.77	0.43336	.	.	.	.	.	T	0.10423	0.0255	L	0.41492	1.28	0.09310	N	1	P	0.43431	0.807	B	0.32090	0.14	T	0.16482	-1.0401	9	0.49607	T	0.09	-24.0365	11.3945	0.49834	0.0:0.0:1.0:0.0	.	76	Q9UL42	PNMA2_HUMAN	L	76	ENSP00000429344:S76L	ENSP00000429344:S76L	S	-	2	0	PNMA2	26421962	0.920000	0.31207	0.060000	0.19600	0.055000	0.15305	2.291000	0.43540	2.389000	0.81357	0.563000	0.77884	TCG		0.473	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		8	135	0	0	0	1	0	8	135				
AHNAK	79026	broad.mit.edu	37	11	62295365	62295365	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:62295365G>A	ENST00000378024.4	-	5	6798	c.6524C>T	c.(6523-6525)cCt>cTt	p.P2175L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2175					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTGCATCTCAGGCATCTTAAA	0.493																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(6523-6525)cCt>cTt		AHNAK nucleoprotein							199.0	210.0	206.0					11																	62295365		2202	4297	6499	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295365G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6524C>T	11.37:g.62295365G>A	ENSP00000367263:p.Pro2175Leu		Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P2175L	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	6798	-		Melanoma(852;0.155)	2175					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6524C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912024	0.33721	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.03065	4.06	4.03	3.09	0.35607	.	0.000000	0.31636	U	0.007315	T	0.29321	0.0730	H	0.98487	4.245	0.50467	D	0.999878	D	0.63046	0.992	D	0.65573	0.936	T	0.54289	-0.8316	10	0.87932	D	0	.	13.4036	0.60898	0.0:0.1599:0.84:0.0	.	2175	Q09666	AHNK_HUMAN	L	264;2175	ENSP00000367263:P2175L	ENSP00000244934:P264L	P	-	2	0	AHNAK	62051941	1.000000	0.71417	0.729000	0.30791	0.081000	0.17604	5.103000	0.64578	0.771000	0.33359	0.298000	0.19748	CCT		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		4	452	0	0	0	1	0	4	452				
NRP2	8828	broad.mit.edu	37	2	206617646	206617646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:206617646G>A	ENST00000357785.5	+	12	2022	c.1991G>A	c.(1990-1992)tGg>tAg	p.W664*	NRP2_ENST00000272849.3_Nonsense_Mutation_p.W664*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.W664*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.W664*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.W664*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.W664*|NRP2_ENST00000360409.3_Nonsense_Mutation_p.W664*			Q99435	NELL2_HUMAN	neuropilin 2	0	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CATGCCAAGTGGCTCCGGACC	0.522																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1990-1992)tGg>tAg		neuropilin 2							72.0	73.0	72.0					2																	206617646		2203	4300	6503	SO:0001587	stop_gained	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206617646G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1991G>A	2.37:g.206617646G>A	ENSP00000350432:p.Trp664*		Somatic				NRP2_ENST00000412873.2_Nonsense_Mutation_p.W664*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.W664*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.W664*|NRP2_ENST00000357785.5_Nonsense_Mutation_p.W664*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.W664*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.W664*	p.W664*	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	WXS	Illumina GAIIx	Phase_I	O60462	NRP2_HUMAN			12	2782	+			664			MAM.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Nonsense_Mutation	SNP	ENST00000357785.5	37	c.1991G>A	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	47	13.598323	0.99752	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	.	.	.	5.71	4.78	0.61160	.	0.051828	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-14.4419	14.5502	0.68059	0.0:0.1457:0.8543:0.0	.	.	.	.	X	664	.	ENSP00000272849:W664X	W	+	2	0	NRP2	206325891	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.362000	0.59467	2.698000	0.92095	0.561000	0.74099	TGG		0.522	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			7	164	0	0	0	1	0	7	164				
ZNF416	55659	broad.mit.edu	37	19	58084565	58084565	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:58084565C>T	ENST00000196489.3	-	4	929	c.707G>A	c.(706-708)tGc>tAc	p.C236Y		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TTTTCCAGTGCAGACTCTAGG	0.468																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(706-708)tGc>tAc		zinc finger protein 416							163.0	162.0	162.0					19																	58084565		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084565C>T	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.707G>A	19.37:g.58084565C>T	ENSP00000196489:p.Cys236Tyr		Somatic					p.C236Y	NM_017879.1	NP_060349.1	WXS	Illumina GAIIx	Phase_I	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	929	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	236					Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.707G>A	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.521298	0.00967	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.07688	3.17	3.54	-6.62	0.01813	.	.	.	.	.	T	0.02888	0.0086	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43861	-0.9365	9	0.62326	D	0.03	.	3.1556	0.06503	0.1017:0.3623:0.1207:0.4153	.	236	Q9BWM5	ZN416_HUMAN	Y	236;222;216	ENSP00000196489:C236Y	ENSP00000196489:C236Y	C	-	2	0	ZNF416	62776377	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.135000	0.15952	-1.108000	0.03000	-0.150000	0.13652	TGC		0.468	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		8	444	0	0	0	1	0	8	444				
FLG2	388698	broad.mit.edu	37	1	152324721	152324721	+	Silent	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:152324721A>T	ENST00000388718.5	-	3	5613	c.5541T>A	c.(5539-5541)acT>acA	p.T1847T	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1847					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGTCCATGAGTAGTTCCAT	0.502																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5539-5541)acT>acA		filaggrin family member 2							324.0	282.0	296.0					1																	152324721		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324721A>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5541T>A	1.37:g.152324721A>T			Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.T1847T	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5613	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1847					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.5541T>A	CCDS30861.1																																																																																				0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		8	878	0	0	0	1	0	8	878				
ZGRF1	55345	broad.mit.edu	37	4	113540570	113540570	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:113540570C>T	ENST00000505019.1	-	6	753	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	C4orf21_ENST00000309071.5_Missense_Mutation_p.E210K|C4orf21_ENST00000445203.2_Missense_Mutation_p.E179K	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		210						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AAATAATTTTCTTCACACAGC	0.388																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(628-630)Gaa>Aaa		chromosome 4 open reading frame 21							42.0	46.0	45.0					4																	113540570		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113540570C>T																												ENST00000505019.1:c.628G>A	4.37:g.113540570C>T	ENSP00000424737:p.Glu210Lys		Somatic				C4orf21_ENST00000445203.2_Missense_Mutation_p.E179K|C4orf21_ENST00000309071.5_Missense_Mutation_p.E210K	p.E210K	NM_018392.4	NP_060862.3	WXS	Illumina GAIIx	Phase_I	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	753	-		Ovarian(17;0.156)	210					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.628G>A		.	.	.	.	.	.	.	.	.	.	C	18.68	3.676269	0.67928	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.83837	-1.77;1.73;1.33	5.17	4.32	0.51571	.	0.664334	0.14410	N	0.321324	T	0.78880	0.4353	M	0.69823	2.125	0.09310	N	1	B;B	0.18461	0.028;0.017	B;B	0.16289	0.015;0.013	T	0.64305	-0.6439	10	0.22706	T	0.39	-3.8228	6.7836	0.23662	0.0:0.6922:0.1464:0.1614	.	210;210	Q86YA3;G5EA02	CD021_HUMAN;.	K	210;210;179	ENSP00000424737:E210K;ENSP00000309095:E210K;ENSP00000390505:E179K	ENSP00000309095:E210K	E	-	1	0	C4orf21	113760019	0.000000	0.05858	0.004000	0.12327	0.388000	0.30384	0.558000	0.23469	1.162000	0.42619	0.591000	0.81541	GAA		0.388	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			3	31	0	0	0	1	0	3	31				
HEATR3	55027	broad.mit.edu	37	16	50128614	50128614	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:50128614A>T	ENST00000299192.7	+	12	1701		c.e12-1		HEATR3_ENST00000564942.1_Splice_Site|HEATR3_ENST00000285767.4_Splice_Site	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3											cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTTGTGTTTTAGATTTTGCTA	0.333																																						ENST00000299192.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.e12-1		HEAT repeat containing 3							77.0	79.0	78.0					16																	50128614		2198	4299	6497	SO:0001630	splice_region_variant	55027						binding	g.chr16:50128614A>T	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1511-1A>T	16.37:g.50128614A>T			Somatic				HEATR3_ENST00000285767.4_Splice_Site|HEATR3_ENST00000564942.1_Splice_Site		NM_182922.2	NP_891552.1	WXS	Illumina GAIIx	Phase_I	Q7Z4Q2	HEAT3_HUMAN			12	1701	+								A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Splice_Site	SNP	ENST00000299192.7	37		CCDS10739.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.411080	0.83340	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3662	0.83325	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HEATR3	48686115	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.514000	0.81750	2.274000	0.75844	0.533000	0.62120	.		0.333	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922	Intron	4	121	0	0	0	1	0	4	121				
SUFU	51684	broad.mit.edu	37	10	104375093	104375093	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:104375093G>A	ENST00000369902.3	+	9	1257	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	SUFU_ENST00000369899.2_Missense_Mutation_p.R364Q|SUFU_ENST00000423559.2_Missense_Mutation_p.R364Q	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	364					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ATTCGCACGCGGCAGCTTGAG	0.567			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													ENST00000369902.3			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"""D, F, S"""	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(1090-1092)cGg>cAg		suppressor of fused homolog (Drosophila)							116.0	99.0	105.0					10																	104375093		2203	4300	6503	SO:0001583	missense	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104375093G>A	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.1091G>A	10.37:g.104375093G>A	ENSP00000358918:p.Arg364Gln		Somatic				SUFU_ENST00000423559.2_Missense_Mutation_p.R364Q|SUFU_ENST00000369899.2_Missense_Mutation_p.R364Q	p.R364Q	NM_016169.3	NP_057253.2	WXS	Illumina GAIIx	Phase_I	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	9	1257	+		Colorectal(252;0.207)	364					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	ENST00000369902.3	37	c.1091G>A	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344969	0.61073	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	T;T;T	0.46451	0.87;0.87;0.87	5.21	5.21	0.72293	Suppressor of fused C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	L	0.52364	1.645	0.58432	D	0.999999	P;P;P	0.44478	0.836;0.803;0.68	B;B;B	0.32211	0.106;0.095;0.142	T	0.32295	-0.9912	10	0.38643	T	0.18	-19.8737	18.7644	0.91866	0.0:0.0:1.0:0.0	.	364;364;364	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	Q	364	ENSP00000358918:R364Q;ENSP00000358915:R364Q;ENSP00000411597:R364Q	ENSP00000358915:R364Q	R	+	2	0	SUFU	104365083	1.000000	0.71417	0.970000	0.41538	0.127000	0.20565	9.476000	0.97823	2.420000	0.82092	0.561000	0.74099	CGG		0.567	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		4	176	0	0	0	1	0	4	176				
TOPORS	10210	broad.mit.edu	37	9	32541886	32541886	+	Silent	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:32541886A>T	ENST00000360538.2	-	3	2753	c.2637T>A	c.(2635-2637)acT>acA	p.T879T	TOPORS_ENST00000379858.1_Silent_p.T814T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	879	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		tATGGTGTTTAGTTGTATCAG	0.383																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2635-2637)acT>acA		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							162.0	168.0	166.0					9																	32541886		2203	4300	6503	SO:0001819	synonymous_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541886A>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2637T>A	9.37:g.32541886A>T			Somatic				TOPORS_ENST00000379858.1_Silent_p.T814T	p.T879T	NM_005802.4	NP_005793.2	WXS	Illumina GAIIx	Phase_I	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2753	-			879			Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.		O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	c.2637T>A	CCDS6527.1																																																																																				0.383	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		7	171	0	0	0	1	0	7	171				
FAT1	2195	broad.mit.edu	37	4	187549318	187549318	+	Silent	SNP	C	C	T	rs373225972		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:187549318C>T	ENST00000441802.2	-	9	5009	c.4800G>A	c.(4798-4800)tcG>tcA	p.S1600S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1600	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1600S(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGACTCGATCGAGTACAGCA	0.448										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			2	Substitution - coding silent(2)	p.S1600S(2)	kidney(2)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(4798-4800)tcG>tcA		FAT atypical cadherin 1		C		0,4034		0,0,2017	37.0	38.0	38.0		4800	-11.0	0.0	4		38	1,8371		0,1,4185	no	coding-synonymous	FAT1	NM_005245.3		0,1,6202	TT,TC,CC		0.0119,0.0,0.0081		1600/4589	187549318	1,12405	2017	4186	6203	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187549318C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4800G>A	4.37:g.187549318C>T		HNSCC(5;0.00058)	Somatic					p.S1600S	NM_005245.3	NP_005236.2	WXS	Illumina GAIIx	Phase_I	Q14517	FAT1_HUMAN			9	5009	-			1600			Cadherin 14.			Silent	SNP	ENST00000441802.2	37	c.4800G>A	CCDS47177.1																																																																																				0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		8	81	0	0	0	1	0	8	81				
MTOR	2475	broad.mit.edu	37	1	11184579	11184579	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:11184579G>A	ENST00000361445.4	-	47	6714	c.6638C>T	c.(6637-6639)cCa>cTa	p.P2213L	MTOR_ENST00000376838.1_Missense_Mutation_p.P418L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2213	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AAGAGATGTTGGGTCATTGGC	0.453																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(6637-6639)cCa>cTa		mechanistic target of rapamycin (serine/threonine kinase)							105.0	101.0	103.0					1																	11184579		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11184579G>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6638C>T	1.37:g.11184579G>A	ENSP00000354558:p.Pro2213Leu		Somatic				MTOR_ENST00000376838.1_Missense_Mutation_p.P418L	p.P2213L	NM_004958.3	NP_004949.1	WXS	Illumina GAIIx	Phase_I	P42345	MTOR_HUMAN			47	6714	-			2213			PI3K/PI4K.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.6638C>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	32	5.121565	0.94385	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.77489	-1.1;-1.1	5.8	5.8	0.92144	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.83142	0.5190	M	0.68593	2.085	0.80722	D	1	P	0.47034	0.889	P	0.50270	0.636	D	0.84173	0.0435	10	0.62326	D	0.03	-14.7705	18.2956	0.90145	0.0:0.0:1.0:0.0	.	2213	P42345	MTOR_HUMAN	L	2213;418	ENSP00000354558:P2213L;ENSP00000366034:P418L	ENSP00000354558:P2213L	P	-	2	0	MTOR	11107166	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	9.362000	0.97126	2.761000	0.94854	0.650000	0.86243	CCA		0.453	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		15	89	0	0	0	1	0	15	89				
NDUFS3	4722	broad.mit.edu	37	11	47602520	47602520	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:47602520G>T	ENST00000263774.4	+	4	447	c.365G>T	c.(364-366)cGg>cTg	p.R122L	KBTBD4_ENST00000533290.1_5'Flank|KBTBD4_ENST00000395288.2_5'Flank|NDUFS3_ENST00000528192.1_Missense_Mutation_p.R122L|NDUFS3_ENST00000533507.1_3'UTR|NDUFS3_ENST00000534716.2_Missense_Mutation_p.R122L|KBTBD4_ENST00000526005.1_5'Flank|KBTBD4_ENST00000525720.1_5'Flank|KBTBD4_ENST00000430070.2_5'Flank	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	122					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					Doxorubicin(DB00997)	GTCCCAACTCGGCAAAACCGT	0.453																																					Pancreas(15;551 601 22438 23457 52512)	ENST00000534716.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9						c.(364-366)cGg>cTg		NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						122.0	114.0	116.0					11																	47602520		2201	4298	6499	SO:0001583	missense	4722				induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr11:47602520G>T	AF067139	CCDS7941.1	11p11.11	2011-08-03	2002-08-29		ENSG00000213619	ENSG00000213619	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7710	protein-coding gene	gene with protein product	"""complex I 30kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"""	603846	"""NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004551		Approved	CI-30	uc001nga.2	O75489	OTTHUMG00000166893	ENST00000263774.4:c.365G>T	11.37:g.47602520G>T	ENSP00000263774:p.Arg122Leu		Somatic				NDUFS3_ENST00000528192.1_Missense_Mutation_p.R122L|NDUFS3_ENST00000533507.1_3'UTR|NDUFS3_ENST00000263774.4_Missense_Mutation_p.R122L	p.R122L			WXS	Illumina GAIIx	Phase_I	O75489	NDUS3_HUMAN			4	383	+			122					B2R9J1|B4DFM8|Q9UNQ8	Missense_Mutation	SNP	ENST00000263774.4	37	c.365G>T	CCDS7941.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362234	0.82353	.	.	ENSG00000213619	ENST00000263774;ENST00000528192;ENST00000534716	D;D;D	0.86030	-1.65;-2.06;-2.06	6.1	5.18	0.71444	NADH:ubiquinone oxidoreductase, 30kDa subunit (1);	0.111999	0.64402	D	0.000018	D	0.92580	0.7643	M	0.91920	3.255	0.58432	D	0.99999	D;P;D	0.71674	0.998;0.941;0.974	D;P;P	0.63957	0.92;0.814;0.899	D	0.93469	0.6817	10	0.87932	D	0	-9.6203	10.7827	0.46388	0.0675:0.1321:0.8004:0.0	.	122;122;48	B4DFM8;O75489;Q9UF24	.;NDUS3_HUMAN;.	L	122	ENSP00000263774:R122L;ENSP00000432099:R122L;ENSP00000434970:R122L	ENSP00000263774:R122L	R	+	2	0	NDUFS3	47559096	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.444000	0.73452	1.563000	0.49615	0.650000	0.86243	CGG		0.453	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391749.1	NM_004551		5	238	1	0	0.00198382	1	0.00202323	5	238				
HPS3	84343	broad.mit.edu	37	3	148872892	148872892	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:148872892A>T	ENST00000296051.2	+	8	1540		c.e8-1		HPS3_ENST00000460120.1_Splice_Site	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3						organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTTTGCTTTTAGTTCGAGAAA	0.303									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.e8-1		Hermansky-Pudlak syndrome 3							89.0	94.0	92.0					3																	148872892		2203	4300	6503	SO:0001630	splice_region_variant	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148872892A>T	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1401-1A>T	3.37:g.148872892A>T			Somatic				HPS3_ENST00000460120.1_Splice_Site		NM_032383.3	NP_115759.2	WXS	Illumina GAIIx	Phase_I	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		8	1540	+								A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Splice_Site	SNP	ENST00000296051.2	37		CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.755131	0.69648	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1558	0.59516	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HPS3	150355582	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	3.727000	0.54984	2.092000	0.63282	0.533000	0.62120	.		0.303	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383	Intron	8	126	0	0	0	1	0	8	126				
SLC24A3	57419	broad.mit.edu	37	20	19701739	19701739	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:19701739C>T	ENST00000328041.6	+	17	2087	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	630					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGACTGAGTTCAACGTGTTCA	0.577																																						ENST00000328041.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1888-1890)ttC>ttT		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							270.0	210.0	231.0					20																	19701739		2203	4300	6503	SO:0001819	synonymous_variant	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19701739C>T	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1890C>T	20.37:g.19701739C>T			Somatic					p.F630F	NM_020689.3	NP_065740.2	WXS	Illumina GAIIx	Phase_I	Q9HC58	NCKX3_HUMAN			17	2087	+			630					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Silent	SNP	ENST00000328041.6	37	c.1890C>T	CCDS13140.1																																																																																				0.577	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		17	947	0	0	0	1	0	17	947				
NAT2	10	broad.mit.edu	37	8	18258243	18258243	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:18258243T>C	ENST00000286479.3	+	2	837	c.730T>C	c.(730-732)Ttc>Ctc	p.F244L	NAT2_ENST00000520116.1_Missense_Mutation_p.F114L	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	244					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)	p.F244L(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	CTATAGAAAATTCAATTATAA	0.393									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000286479.3																			1	Substitution - Missense(1)	p.F244L(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12						c.(730-732)Ttc>Ctc		N-acetyltransferase 2 (arylamine N-acetyltransferase)							53.0	56.0	55.0					8																	18258243		2203	4300	6503	SO:0001583	missense	10	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18258243T>C	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.730T>C	8.37:g.18258243T>C	ENSP00000286479:p.Phe244Leu		Somatic				NAT2_ENST00000520116.1_Missense_Mutation_p.F114L	p.F244L	NM_000015.2	NP_000006.2	WXS	Illumina GAIIx	Phase_I	P11245	ARY2_HUMAN		Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	2	837	+			244					O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Missense_Mutation	SNP	ENST00000286479.3	37	c.730T>C	CCDS6008.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.921126	0.33908	.	.	ENSG00000156006	ENST00000286479;ENST00000520116	T;T	0.02656	4.75;4.21	2.71	2.71	0.32032	.	0.075453	0.53938	D	0.000042	T	0.11836	0.0288	M	0.83692	2.655	0.31082	N	0.711808	D	0.61697	0.99	D	0.67103	0.949	T	0.01114	-1.1447	10	0.49607	T	0.09	.	7.2672	0.26235	0.0:0.0:0.0:1.0	.	244	A4Z6T7	.	L	244;114	ENSP00000286479:F244L;ENSP00000428416:F114L	ENSP00000286479:F244L	F	+	1	0	NAT2	18302523	1.000000	0.71417	0.668000	0.29813	0.152000	0.21847	6.426000	0.73374	1.480000	0.48289	0.358000	0.22013	TTC		0.393	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		21	24	0	0	0	1	0	21	24				
NUP35	129401	broad.mit.edu	37	2	184016285	184016285	+	Silent	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:184016285A>C	ENST00000295119.4	+	5	550	c.447A>C	c.(445-447)acA>acC	p.T149T	NUP35_ENST00000409798.1_Silent_p.T132T|NUP35_ENST00000541912.1_Silent_p.T14T	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	149					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T149T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						GAAAGACGACATTATCTCCTG	0.413																																						ENST00000295119.4																			1	Substitution - coding silent(1)	p.T149T(1)	kidney(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(445-447)acA>acC		nucleoporin 35kDa							119.0	110.0	113.0					2																	184016285		2203	4300	6503	SO:0001819	synonymous_variant	129401				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane		g.chr2:184016285A>C	AF514993	CCDS2290.1, CCDS74614.1	2q32	2008-02-05			ENSG00000163002	ENSG00000163002			29797	protein-coding gene	gene with protein product		608140					Standard	XM_005246284		Approved	MP44	uc002upf.3	Q8NFH5	OTTHUMG00000132621	ENST00000295119.4:c.447A>C	2.37:g.184016285A>C			Somatic				NUP35_ENST00000409798.1_Silent_p.T132T|NUP35_ENST00000541912.1_Silent_p.T14T	p.T149T	NM_138285.3	NP_612142.2	WXS	Illumina GAIIx	Phase_I	Q8NFH5	NUP53_HUMAN			5	550	+			149					B4DP57|B4DYB4|Q4ZFZ9|Q53S95|Q8TDJ1	Silent	SNP	ENST00000295119.4	37	c.447A>C	CCDS2290.1																																																																																				0.413	NUP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255865.1	NM_138285		37	99	0	0	0	1	0	37	99				
TNS1	7145	broad.mit.edu	37	2	218695115	218695115	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:218695115T>A	ENST00000171887.4	-	21	3451		c.e21-2		TNS1_ENST00000430930.1_Intron|TNS1_ENST00000419504.1_Splice_Site	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1						cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTCTGGTAACTAAGGAAAAAA	0.557																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.e21-2		tensin 1							80.0	71.0	74.0					2																	218695115		2203	4300	6503	SO:0001630	splice_region_variant	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218695115T>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2999-2A>T	2.37:g.218695115T>A			Somatic				TNS1_ENST00000419504.1_Splice_Site|TNS1_ENST00000430930.1_Intron		NM_022648.4	NP_072174.3	WXS	Illumina GAIIx	Phase_I	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	21	3451	-		Renal(207;0.0483)|Lung NSC(271;0.213)						Q4ZG71|Q6IPI5	Splice_Site	SNP	ENST00000171887.4	37		CCDS2407.1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.402552	0.25291	.	.	ENSG00000079308	ENST00000171887;ENST00000419504	.	.	.	4.4	1.99	0.26369	.	.	.	.	.	.	.	.	.	.	.	0.38326	D	0.943658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.1386	0.06447	0.2094:0.1108:0.0:0.6798	.	.	.	.	.	-1	.	.	.	-	.	.	TNS1	218403360	0.996000	0.38824	0.522000	0.27862	0.108000	0.19459	1.214000	0.32419	0.786000	0.33708	0.533000	0.62120	.		0.557	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	Intron	4	110	0	0	0	1	0	4	110				
IGSF6	10261	broad.mit.edu	37	16	21658470	21658470	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:21658470G>A	ENST00000268389.4	-	2	472	c.411C>T	c.(409-411)acC>acT	p.T137T	METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	137					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		CCACCAGTGTGGTCCCTCCTC	0.458																																						ENST00000268389.4																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(409-411)acC>acT		immunoglobulin superfamily, member 6							119.0	111.0	114.0					16																	21658470		2199	4300	6499	SO:0001819	synonymous_variant	10261				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr16:21658470G>A	AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"""Immunoglobulin superfamily / V-set domain containing"""	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.411C>T	16.37:g.21658470G>A			Somatic				METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	p.T137T	NM_005849.3	NP_005840.2	WXS	Illumina GAIIx	Phase_I	O95976	IGSF6_HUMAN		GBM - Glioblastoma multiforme(48;0.066)	2	472	-			137					Q8WWD8	Silent	SNP	ENST00000268389.4	37	c.411C>T	CCDS10599.1																																																																																				0.458	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1			67	340	0	0	0	1	0	67	340				
CD163	9332	broad.mit.edu	37	12	7651777	7651777	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:7651777G>A	ENST00000359156.4	-	4	667	c.465C>T	c.(463-465)tcC>tcT	p.S155S	CD163_ENST00000396620.3_Silent_p.S155S|CD163_ENST00000432237.2_Silent_p.S155S|CD163_ENST00000541972.1_Silent_p.S143S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	155					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TTTCCAAATTGGATCCATCTG	0.408																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(463-465)tcC>tcT		CD163 molecule							136.0	135.0	135.0					12																	7651777		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7651777G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.465C>T	12.37:g.7651777G>A			Somatic				CD163_ENST00000432237.2_Silent_p.S155S|CD163_ENST00000541972.1_Silent_p.S143S|CD163_ENST00000396620.3_Silent_p.S155S	p.S155S	NM_004244.5	NP_004235.4	WXS	Illumina GAIIx	Phase_I	Q86VB7	C163A_HUMAN			4	667	-			155					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.465C>T	CCDS8578.1																																																																																				0.408	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		11	557	0	0	0	1	0	11	557				
DPAGT1	1798	broad.mit.edu	37	11	118981555	118981555	+	5'Flank	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:118981555A>T	ENST00000409993.2	-	0	0				C2CD2L_ENST00000528586.1_5'Flank|C2CD2L_ENST00000336702.3_Splice_Site			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TCCTGTCTGTAGTTGGAAGTC	0.527																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.e4-1		C2CD2-like							138.0	140.0	139.0					11																	118981555		2200	4295	6495	SO:0001631	upstream_gene_variant	9854					integral to membrane		g.chr11:118981555A>T	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533		11.37:g.118981555A>T	Exception_encountered		Somatic						NM_014807.3	NP_055622.3	WXS	Illumina GAIIx	Phase_I	O14523	C2C2L_HUMAN			4	929	+								O15216|Q86WV9|Q9BWE6	Splice_Site	SNP	ENST00000409993.2	37		CCDS8411.1	.	.	.	.	.	.	.	.	.	.	A	9.174	1.021897	0.19433	.	.	ENSG00000172375	ENST00000336702	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8872	0.52608	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C2CD2L	118486765	1.000000	0.71417	0.855000	0.33649	0.173000	0.22820	7.146000	0.77373	2.026000	0.59711	0.533000	0.62120	.		0.527	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		8	496	0	0	0	1	0	8	496				
WIF1	11197	broad.mit.edu	37	12	65462686	65462686	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:65462686T>A	ENST00000286574.4	-	4	772		c.e4-2			NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1						multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTTGAACAACTAAAAGAAAAA	0.373			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.e4-2		WNT inhibitory factor 1							77.0	70.0	72.0					12																	65462686		2203	4300	6503	SO:0001630	splice_region_variant	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65462686T>A	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.398-2A>T	12.37:g.65462686T>A			Somatic						NM_007191.4	NP_009122.2	WXS	Illumina GAIIx	Phase_I	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	4	772	-								Q6UXI1|Q8WVG4	Splice_Site	SNP	ENST00000286574.4	37		CCDS8971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.3|20.3	3.968138|3.968138	0.74131|0.74131	.|.	.|.	ENSG00000156076|ENSG00000156076	ENST00000286574;ENST00000546001|ENST00000535025	.|.	.|.	.|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71576	.|0.3356	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71122	.|-0.4684	.|4	.|.	.|.	.|.	.|.	15.5624|15.5624	0.76258|0.76258	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|V	-1|18	.|.	.|.	.|E	-|-	.|2	.|0	WIF1|WIF1	63748953|63748953	1.000000|1.000000	0.71417|0.71417	0.880000|0.880000	0.34516|0.34516	0.896000|0.896000	0.52359|0.52359	6.654000|6.654000	0.74387|0.74387	2.142000|2.142000	0.66516|0.66516	0.533000|0.533000	0.62120|0.62120	.|GAG		0.373	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2		Intron	4	97	0	0	0	1	0	4	97				
KIAA1522	57648	broad.mit.edu	37	1	33237800	33237800	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:33237800C>T	ENST00000373480.1	+	6	2946	c.2843C>T	c.(2842-2844)tCa>tTa	p.S948L	KIAA1522_ENST00000401073.2_Missense_Mutation_p.S1007L|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.S959L	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	948	Pro-rich.							p.S1007L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CGGAGCATCTCAGAGCAGCGG	0.667																																						ENST00000401073.2																			1	Substitution - Missense(1)	p.S1007L(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(3019-3021)tCa>tTa		KIAA1522							24.0	31.0	29.0					1																	33237800		1953	4156	6109	SO:0001583	missense	57648							g.chr1:33237800C>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2843C>T	1.37:g.33237800C>T	ENSP00000362579:p.Ser948Leu		Somatic				KIAA1522_ENST00000373480.1_Missense_Mutation_p.S948L|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.S959L	p.S1007L	NM_020888.2	NP_065939.2	WXS	Illumina GAIIx	Phase_I	Q9P206	K1522_HUMAN			6	3090	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	948					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.3020C>T	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368537	0.95900	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.17213	2.29;2.3;2.32	4.85	4.85	0.62838	.	0.241427	0.29572	N	0.011767	T	0.40791	0.1131	M	0.61703	1.905	0.45129	D	0.998141	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71656	0.974;0.974;0.974	T	0.21314	-1.0249	10	0.72032	D	0.01	-11.5397	18.534	0.91002	0.0:1.0:0.0:0.0	.	959;948;1007	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	L	1007;959;948	ENSP00000383851:S1007L;ENSP00000362580:S959L;ENSP00000362579:S948L	ENSP00000362579:S948L	S	+	2	0	KIAA1522	33010387	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	5.506000	0.66993	2.682000	0.91365	0.650000	0.86243	TCA		0.667	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			9	14	0	0	0	1	0	9	14				
PRELID1	27166	broad.mit.edu	37	5	176733119	176733119	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:176733119C>G	ENST00000303204.4	+	4	665	c.453C>G	c.(451-453)ttC>ttG	p.F151L	RAB24_ENST00000393611.2_5'Flank|RAB24_ENST00000303251.6_5'Flank|MXD3_ENST00000427908.2_3'UTR|RAB24_ENST00000303270.6_5'Flank|PRELID1_ENST00000503216.1_Missense_Mutation_p.F151L			Q9Y255	PRLD1_HUMAN	PRELI domain containing 1	151	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				apoptotic process (GO:0006915)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of cellular respiration (GO:1901857)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of T cell apoptotic process (GO:0070234)|regulation of membrane lipid distribution (GO:0097035)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of T cell differentiation (GO:0045580)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.F151L(1)		endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGCCCGATTCAAAAGCAACG	0.498																																						ENST00000303204.4																			1	Substitution - Missense(1)	p.F151L(1)	kidney(1)	endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7						c.(451-453)ttC>ttG		PRELI domain containing 1							103.0	102.0	102.0					5																	176733119		2203	4300	6503	SO:0001583	missense	27166				immune response|multicellular organismal development	mitochondrion|nucleus		g.chr5:176733119C>G	BC013748	CCDS4415.1, CCDS64328.1	5q35.3	2010-01-18			ENSG00000169230	ENSG00000169230			30255	protein-coding gene	gene with protein product	"""protein of relevant evolutionary and lymphoid interest"", ""px19-like protein"""	605733				10784606, 14640972	Standard	NM_013237		Approved	CGI-106, PX19, PRELI	uc003mfx.4	Q9Y255	OTTHUMG00000130847	ENST00000303204.4:c.453C>G	5.37:g.176733119C>G	ENSP00000302114:p.Phe151Leu		Somatic				MXD3_ENST00000427908.2_3'UTR|PRELID1_ENST00000503216.1_Missense_Mutation_p.F151L	p.F151L			WXS	Illumina GAIIx	Phase_I	Q9Y255	PRLD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	665	+	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	151			PRELI/MSF1.		B2R5F7|D6RD25|Q549N2|Q9UI13|Q9UJS9	Missense_Mutation	SNP	ENST00000303204.4	37	c.453C>G	CCDS4415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.79|17.79	3.475682|3.475682	0.63737|0.63737	.|.	.|.	ENSG00000169230|ENSG00000169230	ENST00000303204;ENST00000503216|ENST00000503853	T;T|.	0.29397|.	1.57;1.57|.	4.27|4.27	3.1|3.1	0.35709|0.35709	PRELI/MSF1 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78304|0.78304	0.4262|0.4262	M|M	0.92169|0.92169	3.28|3.28	0.80722|0.80722	D|D	1|1	P;P|.	0.50943|.	0.94;0.885|.	P;P|.	0.58391|.	0.838;0.734|.	T|T	0.79624|0.79624	-0.1726|-0.1726	10|5	0.66056|.	D|.	0.02|.	-11.0755|-11.0755	8.1898|8.1898	0.31361|0.31361	0.0:0.7885:0.0:0.2115|0.0:0.7885:0.0:0.2115	.|.	151;151|.	D6RD25;Q9Y255|.	.;PRLD1_HUMAN|.	L|E	151|100	ENSP00000302114:F151L;ENSP00000427097:F151L|.	ENSP00000302114:F151L|.	F|Q	+|+	3|1	2|0	PRELID1|PRELID1	176665725|176665725	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.515000|0.515000	0.34225|0.34225	1.910000|1.910000	0.39927|0.39927	0.907000|0.907000	0.36646|0.36646	0.561000|0.561000	0.74099|0.74099	TTC|CAA		0.498	PRELID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253414.1	NM_013237		106	102	0	0	0	1	0	106	102				
OBSCN	84033	broad.mit.edu	37	1	228479797	228479797	+	Missense_Mutation	SNP	C	C	T	rs576775279		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:228479797C>T	ENST00000422127.1	+	39	10582	c.10538C>T	c.(10537-10539)gCg>gTg	p.A3513V	OBSCN_ENST00000366707.4_Missense_Mutation_p.A632V|OBSCN_ENST00000284548.11_Missense_Mutation_p.A3513V|OBSCN_ENST00000366709.4_Missense_Mutation_p.A632V|OBSCN_ENST00000570156.2_Missense_Mutation_p.A3942V|OBSCN_ENST00000359599.6_Missense_Mutation_p.A2360V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3513	Ig-like 35.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGCCATGGCGGACGCCGGG	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18533	0.0		0.0	False		,,,				2504	0.0					ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(11824-11826)gCg>gTg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							106.0	113.0	111.0					1																	228479797		2105	4213	6318	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228479797C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10538C>T	1.37:g.228479797C>T	ENSP00000409493:p.Ala3513Val		Somatic				OBSCN_ENST00000422127.1_Missense_Mutation_p.A3513V|OBSCN_ENST00000359599.6_Missense_Mutation_p.A2360V|OBSCN_ENST00000366707.4_Missense_Mutation_p.A632V|OBSCN_ENST00000366709.4_Missense_Mutation_p.A632V|OBSCN_ENST00000284548.11_Missense_Mutation_p.A3513V	p.A3942V	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			44	11899	+		Prostate(94;0.0405)	2980			Ig-like 40.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.11825C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136737	0.56936	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.05081	3.5;3.5;3.5;3.5;3.5	5.1	-8.51	0.00923	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.640644	0.15308	N	0.269251	T	0.12178	0.0296	L	0.53249	1.67	0.09310	N	1	D;D	0.62365	0.991;0.988	P;P	0.59357	0.856;0.611	T	0.01280	-1.1397	10	0.34782	T	0.22	.	16.0693	0.80911	0.7089:0.2339:0.0:0.0572	.	3513;3513	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	V	3513;3513;632;632;2360	ENSP00000284548:A3513V;ENSP00000409493:A3513V;ENSP00000355668:A632V;ENSP00000355670:A632V;ENSP00000352613:A2360V	ENSP00000284548:A3513V	A	+	2	0	OBSCN	226546420	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.639000	0.05446	-1.167000	0.02779	0.511000	0.50034	GCG		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	254	0	0	0	1	0	4	254				
CHST8	64377	broad.mit.edu	37	19	34262927	34262927	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:34262927C>T	ENST00000262622.4	+	4	992	c.234C>T	c.(232-234)gaC>gaT	p.D78D	CHST8_ENST00000434302.1_Silent_p.D78D|CHST8_ENST00000438847.3_Silent_p.D78D	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	78					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.D78D(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TCACTCGGGACTTATCCAGTG	0.657																																						ENST00000262622.3																			1	Substitution - coding silent(1)	p.D78D(1)	kidney(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(232-234)gaC>gaT		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							31.0	41.0	38.0					19																	34262927		2200	4299	6499	SO:0001819	synonymous_variant	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34262927C>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.234C>T	19.37:g.34262927C>T			Somatic				CHST8_ENST00000438847.2_Silent_p.D78D|CHST8_ENST00000434302.1_Silent_p.D78D	p.D78D	NM_022467.3	NP_071912.2	WXS	Illumina GAIIx	Phase_I	Q9H2A9	CHST8_HUMAN			4	992	+	Esophageal squamous(110;0.162)		78					Q9H3N2	Silent	SNP	ENST00000262622.4	37	c.234C>T	CCDS12433.1																																																																																				0.657	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		6	18	0	0	0	1	0	6	18				
PPP2R2A	5520	broad.mit.edu	37	8	26218611	26218611	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:26218611C>T	ENST00000380737.3	+	6	910	c.581C>T	c.(580-582)tCt>tTt	p.S194F	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.S204F	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	194					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		ACATATTTATCTGCAGATGAT	0.353																																						ENST00000380737.3																			0				kidney(1)|large_intestine(2)|ovary(1)	4						c.(580-582)tCt>tTt		protein phosphatase 2, regulatory subunit B, alpha							136.0	137.0	136.0					8																	26218611		2203	4300	6503	SO:0001583	missense	5520							g.chr8:26218611C>T	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.581C>T	8.37:g.26218611C>T	ENSP00000370113:p.Ser194Phe		Somatic				PPP2R2A_ENST00000315985.7_Missense_Mutation_p.S204F	p.S194F	NM_002717.3	NP_002708.1	WXS	Illumina GAIIx	Phase_I				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	6	910	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	c.581C>T	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.049120	0.93740	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.38401	1.14;1.14	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.73187	0.3555	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81741	-0.0794	10	0.87932	D	0	-7.9214	19.4786	0.95000	0.0:1.0:0.0:0.0	.	204;194	B4E1T7;P63151	.;2ABA_HUMAN	F	194;204	ENSP00000370113:S194F;ENSP00000325074:S204F	ENSP00000325074:S204F	S	+	2	0	PPP2R2A	26274528	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.686000	0.91538	0.585000	0.79938	TCT		0.353	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		4	62	0	0	0	1	0	4	62				
PAXBP1	94104	broad.mit.edu	37	21	34134523	34134523	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:34134523C>T	ENST00000331923.4	-	4	944	c.755G>A	c.(754-756)cGc>cAc	p.R252H	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.R252H	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	252					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCTAACAAGGCGGCCTTTACC	0.423																																						ENST00000331923.4																			0											c.(754-756)cGc>cAc		PAX3 and PAX7 binding protein 1							102.0	102.0	102.0					21																	34134523		2203	4300	6503	SO:0001583	missense	94104							g.chr21:34134523C>T	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.755G>A	21.37:g.34134523C>T	ENSP00000328992:p.Arg252His		Somatic				PAXBP1_ENST00000290178.4_Missense_Mutation_p.R252H|PAXBP1_ENST00000472588.1_5'UTR	p.R252H	NM_016631.3	NP_057715.2	WXS	Illumina GAIIx	Phase_I					4	944	-								D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.755G>A	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830311	0.91036	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.38077	1.56;1.16	5.63	5.63	0.86233	.	0.110150	0.56097	D	0.000030	T	0.42899	0.1223	M	0.64997	1.995	0.80722	D	1	P;D	0.56968	0.925;0.978	B;B	0.43052	0.406;0.299	T	0.48670	-0.9015	10	0.72032	D	0.01	-9.0418	19.2824	0.94057	0.0:1.0:0.0:0.0	.	252;252	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	H	252	ENSP00000328992:R252H;ENSP00000290178:R252H	ENSP00000290178:R252H	R	-	2	0	GCFC1	33056394	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.757000	0.68766	2.650000	0.89964	0.557000	0.71058	CGC		0.423	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		4	124	0	0	0	1	0	4	124				
FAM111B	374393	broad.mit.edu	37	11	58893286	58893286	+	Silent	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:58893286T>G	ENST00000343597.3	+	4	1907	c.1716T>G	c.(1714-1716)ggT>ggG	p.G572G	FAM111B_ENST00000411426.1_Silent_p.G542G|FAM111B_ENST00000529618.1_Silent_p.G542G	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	572							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CATCTACTGGTTTGATTTATT	0.353																																						ENST00000343597.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(1714-1716)ggT>ggG		family with sequence similarity 111, member B							106.0	99.0	101.0					11																	58893286		2201	4294	6495	SO:0001819	synonymous_variant	374393						catalytic activity	g.chr11:58893286T>G	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1716T>G	11.37:g.58893286T>G			Somatic				FAM111B_ENST00000411426.1_Silent_p.G542G|FAM111B_ENST00000529618.1_Silent_p.G542G	p.G572G	NM_198947.3	NP_945185.1	WXS	Illumina GAIIx	Phase_I	Q6SJ93	F111B_HUMAN			4	1907	+			572					B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	c.1716T>G	CCDS7972.1																																																																																				0.353	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		8	159	0	0	0	1	0	8	159				
FXYD2	486	broad.mit.edu	37	11	117691582	117691582	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:117691582C>T	ENST00000292079.2	-	4	233	c.168G>A	c.(166-168)aaG>aaA	p.K56K	FXYD6-FXYD2_ENST00000532984.1_3'UTR|FXYD2_ENST00000260287.2_Silent_p.K54K|FXYD2_ENST00000514385.1_5'Flank|RP11-728F11.3_ENST00000596805.1_RNA|FXYD2_ENST00000532119.1_Silent_p.K54K|FXYD2_ENST00000528014.1_Silent_p.K54K|RP11-728F11.3_ENST00000531850.2_RNA	NM_001680.4	NP_001671.2	P54710	ATNG_HUMAN	FXYD domain containing ion transport regulator 2	56					ion transmembrane transport (GO:0034220)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ion channel activity (GO:0005216)|sodium:potassium-exchanging ATPase activity (GO:0005391)|transporter activity (GO:0005215)			breast(1)|kidney(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;2.83e-05)|Epithelial(105;0.00114)	Cyclothiazide(DB00606)	ACCTGCGCTTCTTATTGCCCC	0.532																																						ENST00000528014.1																			0				breast(1)|kidney(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(160-162)aaG>aaA		FXYD domain containing ion transport regulator 2							102.0	121.0	115.0					11																	117691582		2201	4296	6497	SO:0001819	synonymous_variant	486							g.chr11:117691582C>T	AF241236	CCDS8385.1, CCDS8386.1	11q23	2008-02-05	2003-02-28						4026	protein-coding gene	gene with protein product		601814	"""hypomagnesemia 2, renal"""	ATP1G1, HOMG2		9048881, 9915957	Standard	NM_021603		Approved	MGC12372		P54710		ENST00000292079.2:c.168G>A	11.37:g.117691582C>T			Somatic				FXYD2_ENST00000292079.2_Silent_p.K56K|FXYD6-FXYD2_ENST00000532984.1_3'UTR|RP11-728F11.3_ENST00000596805.1_RNA|FXYD2_ENST00000260287.2_Silent_p.K54K|FXYD2_ENST00000532119.1_Silent_p.K54K|RP11-728F11.3_ENST00000531850.2_RNA	p.K54K			WXS	Illumina GAIIx	Phase_I				BRCA - Breast invasive adenocarcinoma(274;2.83e-05)|Epithelial(105;0.00114)	5	329	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)						Q15332|Q53YC1|Q9GZP3|Q9GZQ7	Silent	SNP	ENST00000292079.2	37	c.162G>A	CCDS8386.1																																																																																				0.532	FXYD2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390050.1	NM_021603		4	48	0	0	0	1	0	4	48				
GART	2618	broad.mit.edu	37	21	34889913	34889913	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:34889913C>T	ENST00000381831.3	-	15	1968	c.1705G>A	c.(1705-1707)Ggt>Agt	p.G569S	GART_ENST00000543717.1_Missense_Mutation_p.G121S|GART_ENST00000381839.3_Missense_Mutation_p.G569S|GART_ENST00000381815.4_Missense_Mutation_p.G569S	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	569	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GCTGTTTCACCTCCTGGTGGG	0.458																																						ENST00000381831.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31						c.(1705-1707)Ggt>Agt		phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	Pemetrexed(DB00642)						89.0	92.0	91.0					21																	34889913		2203	4300	6503	SO:0001583	missense	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34889913C>T	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.1705G>A	21.37:g.34889913C>T	ENSP00000371253:p.Gly569Ser		Somatic				GART_ENST00000381815.4_Missense_Mutation_p.G569S|GART_ENST00000543717.1_Missense_Mutation_p.G121S|GART_ENST00000381839.3_Missense_Mutation_p.G569S	p.G569S	NM_001136005.1	NP_001129477.1	WXS	Illumina GAIIx	Phase_I	P22102	PUR2_HUMAN			15	1968	-			569			AIRS.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	c.1705G>A	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459884	0.96240	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	5.67	5.67	0.87782	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.000000	0.85682	D	0.000000	D	0.96873	0.8979	H	0.98849	4.35	0.80722	D	1	D	0.53885	0.963	P	0.60473	0.875	D	0.98043	1.0383	10	0.72032	D	0.01	-18.3277	19.7782	0.96405	0.0:1.0:0.0:0.0	.	569	P22102	PUR2_HUMAN	S	569;569;569;121	ENSP00000371236:G569S;ENSP00000371253:G569S;ENSP00000371261:G569S;ENSP00000443579:G121S	ENSP00000371236:G569S	G	-	1	0	GART	33811783	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.277000	0.58939	2.667000	0.90743	0.561000	0.74099	GGT		0.458	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		4	232	0	0	0	1	0	4	232				
TMEM131	23505	broad.mit.edu	37	2	98418894	98418894	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:98418894G>A	ENST00000186436.5	-	24	2876	c.2648C>T	c.(2647-2649)tCa>tTa	p.S883L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	883						integral component of membrane (GO:0016021)		p.S770L(1)|p.S883L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TACTTACCTTGATACTAACTT	0.328																																						ENST00000186436.5																			2	Substitution - Missense(2)	p.S770L(1)|p.S883L(1)	kidney(2)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(2647-2649)tCa>tTa		transmembrane protein 131							95.0	90.0	91.0					2																	98418894		1837	4089	5926	SO:0001583	missense	23505					integral to membrane		g.chr2:98418894G>A	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2648C>T	2.37:g.98418894G>A	ENSP00000186436:p.Ser883Leu		Somatic					p.S883L	NM_015348.1	NP_056163.1	WXS	Illumina GAIIx	Phase_I	Q92545	TM131_HUMAN			24	2876	-			883						Missense_Mutation	SNP	ENST00000186436.5	37	c.2648C>T	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213766	0.39102	.	.	ENSG00000075568	ENST00000186436	T	0.32515	1.45	5.97	5.02	0.67125	.	0.292243	0.36932	N	0.002325	T	0.15869	0.0382	N	0.08118	0	0.80722	D	1	B	0.31125	0.309	B	0.29785	0.107	T	0.09335	-1.0679	10	0.29301	T	0.29	.	11.7237	0.51698	0.0:0.0:0.6236:0.3764	.	883	Q92545	TM131_HUMAN	L	883	ENSP00000186436:S883L	ENSP00000186436:S883L	S	-	2	0	TMEM131	97785326	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	5.420000	0.66441	2.835000	0.97688	0.591000	0.81541	TCA		0.328	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		26	50	0	0	0	1	0	26	50				
KIAA1191	57179	broad.mit.edu	37	5	175782659	175782659	+	Missense_Mutation	SNP	G	G	A	rs138102670	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:175782659G>A	ENST00000298569.4	-	4	655	c.122C>T	c.(121-123)gCg>gTg	p.A41V	RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393725.2_Missense_Mutation_p.A22V|KIAA1191_ENST00000510164.1_Missense_Mutation_p.A41V|KIAA1191_ENST00000393728.2_Intron|KIAA1191_ENST00000533553.1_Intron|RP11-843P14.1_ENST00000512934.1_RNA	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	41						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		AGTCATGGGCGCAGGGTCCTC	0.582													G|||	5	0.000998403	0.0038	0.0	5008	,	,		16565	0.0		0.0	False		,,,				2504	0.0					ENST00000298569.4																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(121-123)gCg>gTg		KIAA1191		G	VAL/ALA,VAL/ALA,VAL/ALA	5,4401	9.9+/-24.2	0,5,2198	104.0	89.0	94.0		65,122,122	5.1	0.6	5	dbSNP_134	94	0,8600		0,0,4300	no	missense,missense,missense	KIAA1191	NM_001079684.1,NM_001079685.1,NM_020444.3	64,64,64	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign,benign,benign	22/287,41/306,41/306	175782659	5,13001	2203	4300	6503	SO:0001583	missense	57179						protein binding	g.chr5:175782659G>A	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.122C>T	5.37:g.175782659G>A	ENSP00000298569:p.Ala41Val		Somatic				KIAA1191_ENST00000393728.2_Intron|KIAA1191_ENST00000510164.1_Missense_Mutation_p.A41V|KIAA1191_ENST00000393725.2_Missense_Mutation_p.A22V|KIAA1191_ENST00000533553.1_Intron|RP11-843P14.1_ENST00000512934.1_RNA	p.A41V	NM_020444.3	NP_065177.2	WXS	Illumina GAIIx	Phase_I	Q96A73	K1191_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)	4	655	-	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	41					B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Missense_Mutation	SNP	ENST00000298569.4	37	c.122C>T	CCDS4399.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072669	0.55646	0.001135	0.0	ENSG00000122203	ENST00000298569;ENST00000393725;ENST00000510164;ENST00000506983;ENST00000503082;ENST00000504688	.	.	.	5.07	5.07	0.68467	.	0.355758	0.32703	N	0.005749	T	0.62429	0.2427	M	0.66939	2.045	0.80722	D	1	B	0.31209	0.313	B	0.25506	0.061	T	0.66544	-0.5897	9	0.72032	D	0.01	-1.6187	18.8135	0.92068	0.0:0.0:1.0:0.0	.	41	Q96A73	K1191_HUMAN	V	41;22;41;22;22;22	.	ENSP00000298569:A41V	A	-	2	0	KIAA1191	175715265	0.989000	0.36119	0.563000	0.28383	0.987000	0.75469	6.846000	0.75399	2.516000	0.84829	0.591000	0.81541	GCG		0.582	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		5	590	0	0	0	1	0	5	590				
SCGB2B2	284402	broad.mit.edu	37	19	35085113	35085113	+	Silent	SNP	G	G	T	rs139007213		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:35085113G>T	ENST00000601241.1	-	3	2313	c.213C>A	c.(211-213)tcC>tcA	p.S71S	SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Silent_p.S71S			Q4G0G5	SC2B2_HUMAN	secretoglobin, family 2B, member 2	71						extracellular region (GO:0005576)											TTTCTGTCACGGAGACATTGG	0.542																																						ENST00000601241.1																			0											c.(211-213)tcC>tcA		secretoglobin, family 2B, member 2							115.0	99.0	104.0					19																	35085113		2203	4300	6503	SO:0001819	synonymous_variant	284402					extracellular region	binding	g.chr19:35085113G>T	AK093495	CCDS32989.1	19q13.12	2011-12-14	2011-12-14	2011-12-14	ENSG00000205209	ENSG00000205209		"""Secretoglobins"""	27616	protein-coding gene	gene with protein product		615063	"""secretoglobin-like"""	SCGBL		22155607	Standard	NM_001025591		Approved	SCGB4A2	uc002nvn.3	Q4G0G5		ENST00000601241.1:c.213C>A	19.37:g.35085113G>T			Somatic				SCGB2B2_ENST00000379204.2_Silent_p.S71S|SCGB2B2_ENST00000595326.1_Intron	p.S71S			WXS	Illumina GAIIx	Phase_I	Q4G0G5	SCGBL_HUMAN			3	2313	-			71						Silent	SNP	ENST00000601241.1	37	c.213C>A	CCDS32989.1																																																																																				0.542	SCGB2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461457.2	NM_001025591		8	386	1	0	0.000442599	1	0.000453394	8	386				
TCHHL1	126637	broad.mit.edu	37	1	152058807	152058807	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:152058807C>T	ENST00000368806.1	-	3	1415	c.1351G>A	c.(1351-1353)Gga>Aga	p.G451R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	451							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGATCTCCTCCTTCTGAGCTT	0.443																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(1351-1353)Gga>Aga		trichohyalin-like 1							233.0	219.0	224.0					1																	152058807		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152058807C>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1351G>A	1.37:g.152058807C>T	ENSP00000357796:p.Gly451Arg		Somatic					p.G451R	NM_001008536.1	NP_001008536.1	WXS	Illumina GAIIx	Phase_I	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1415	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		451					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.1351G>A	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	18.51	3.638870	0.67130	.	.	ENSG00000182898	ENST00000368806	T	0.24350	1.86	5.59	4.68	0.58851	.	0.875879	0.09504	N	0.793202	T	0.07908	0.0198	L	0.46157	1.445	0.09310	N	1	P	0.40931	0.733	B	0.32342	0.144	T	0.16600	-1.0397	10	0.17369	T	0.5	-1.7415	10.6078	0.45404	0.0:0.9111:0.0:0.0889	.	451	Q5QJ38	TCHL1_HUMAN	R	451	ENSP00000357796:G451R	ENSP00000357796:G451R	G	-	1	0	TCHHL1	150325431	0.017000	0.18338	0.075000	0.20258	0.220000	0.24768	0.391000	0.20784	1.368000	0.46115	0.650000	0.86243	GGA		0.443	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		10	824	0	0	0	1	0	10	824				
ASTN1	460	broad.mit.edu	37	1	176903353	176903353	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:176903353G>C	ENST00000367654.3	-	16	2841	c.2630C>G	c.(2629-2631)tCt>tGt	p.S877C	ASTN1_ENST00000281881.3_5'Flank|ASTN1_ENST00000367657.3_Missense_Mutation_p.S869C|ASTN1_ENST00000424564.2_Missense_Mutation_p.S869C|ASTN1_ENST00000361833.2_Missense_Mutation_p.S869C	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	877					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTACCAGATAGAACAGGACTC	0.512																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(2629-2631)tCt>tGt		astrotactin 1							123.0	100.0	107.0					1																	176903353		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176903353G>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2630C>G	1.37:g.176903353G>C	ENSP00000356626:p.Ser877Cys		Somatic				ASTN1_ENST00000361833.2_Missense_Mutation_p.S869C|ASTN1_ENST00000424564.2_Missense_Mutation_p.S869C|ASTN1_ENST00000367657.3_Missense_Mutation_p.S869C	p.S877C			WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			16	2643	-			877					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2630C>G		.	.	.	.	.	.	.	.	.	.	G	28.3	4.909391	0.92107	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.91	5.91	0.95273	.	0.048321	0.85682	D	0.000000	T	0.57227	0.2039	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.67145	0.996;0.996	P;P	0.61592	0.891;0.891	T	0.56025	-0.8047	10	0.52906	T	0.07	-22.3286	19.8936	0.96942	0.0:0.0:1.0:0.0	.	869;869	O14525-2;B1AJS1	.;.	C	869;869;877;869;869	ENSP00000356629:S869C;ENSP00000354536:S869C;ENSP00000356626:S877C;ENSP00000395041:S869C	ENSP00000354536:S869C	S	-	2	0	ASTN1	175169976	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	7.289000	0.78701	2.793000	0.96121	0.655000	0.94253	TCT		0.512	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		4	378	0	0	0	1	0	4	378				
SLC4A4	8671	broad.mit.edu	37	4	72420855	72420855	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:72420855A>T	ENST00000264485.5	+	21	2811		c.e21-1		SLC4A4_ENST00000340595.3_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site|SLC4A4_ENST00000425175.1_Splice_Site	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TTTTCCTTCTAGTTTATACCC	0.323																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.e18-1		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							224.0	228.0	227.0					4																	72420855		2203	4300	6503	SO:0001630	splice_region_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72420855A>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2695-1A>T	4.37:g.72420855A>T			Somatic				SLC4A4_ENST00000264485.5_Splice_Site|SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site		NM_003759.3	NP_003750.1	WXS	Illumina GAIIx	Phase_I	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		18	2758	+								C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Splice_Site	SNP	ENST00000264485.5	37		CCDS43236.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281305	0.80692	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3473	0.83146	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A4	72639719	1.000000	0.71417	0.994000	0.49952	0.795000	0.44927	9.253000	0.95501	2.320000	0.78422	0.528000	0.53228	.		0.323	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	Intron	6	267	0	0	0	1	0	6	267				
MUL1	79594	broad.mit.edu	37	1	20828602	20828602	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:20828602G>A	ENST00000264198.3	-	3	425	c.289C>T	c.(289-291)Cag>Tag	p.Q97*		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	97					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TTGTGCTCCTGAAGTGTCAGC	0.478																																						ENST00000264198.3																			0				endometrium(2)|large_intestine(4)|lung(5)	11						c.(289-291)Cag>Tag		mitochondrial E3 ubiquitin protein ligase 1							140.0	135.0	137.0					1																	20828602		2203	4300	6503	SO:0001587	stop_gained	79594				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:20828602G>A	BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"""RING-type (C3HC4) zinc fingers"""	25762	protein-coding gene	gene with protein product	"""ring finger protein 218"", ""mitochondria-anchored protein ligase"", ""growth inhibition and death E3 ligase"", ""mitochondrial ubiquitin ligase activator of NFKB 1"""	612037	"""chromosome 1 open reading frame 166"""	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.289C>T	1.37:g.20828602G>A	ENSP00000264198:p.Gln97*		Somatic					p.Q97*	NM_024544.2	NP_078820.2	WXS	Illumina GAIIx	Phase_I	Q969V5	MUL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	425	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	97					B5M497|Q7Z431|Q9H9B5	Nonsense_Mutation	SNP	ENST00000264198.3	37	c.289C>T	CCDS208.1	.	.	.	.	.	.	.	.	.	.	G	37	6.333452	0.97480	.	.	ENSG00000090432	ENST00000264198	.	.	.	6.17	6.17	0.99709	.	0.095191	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-40.1409	13.211	0.59825	0.0:0.0:0.8411:0.1589	.	.	.	.	X	97	.	ENSP00000264198:Q97X	Q	-	1	0	MUL1	20701189	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.749000	0.55150	2.941000	0.99782	0.655000	0.94253	CAG		0.478	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544		4	114	0	0	0	1	0	4	114				
THOC2	57187	broad.mit.edu	37	X	122758390	122758390	+	Splice_Site	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:122758390A>G	ENST00000245838.8	-	26	3218		c.e26+1		THOC2_ENST00000355725.4_Splice_Site|THOC2_ENST00000491737.1_Splice_Site	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2						mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.?(2)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TATTAGTCATACCTTTTCATA	0.358																																						ENST00000245838.8																			2	Unknown(2)	p.?(2)	kidney(2)	breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.e26+1		THO complex 2							155.0	143.0	147.0					X																	122758390		1863	4080	5943	SO:0001630	splice_region_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122758390A>G	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3186+1T>C	X.37:g.122758390A>G			Somatic				THOC2_ENST00000355725.4_Splice_Site|THOC2_ENST00000491737.1_Splice_Site		NM_001081550.1	NP_001075019.1	WXS	Illumina GAIIx	Phase_I	Q8NI27	THOC2_HUMAN			26	3218	-								A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Splice_Site	SNP	ENST00000245838.8	37		CCDS43988.1	.	.	.	.	.	.	.	.	.	.	A	8.590	0.884327	0.17467	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000438358	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4951	0.67680	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	THOC2	122586071	1.000000	0.71417	0.996000	0.52242	0.246000	0.25737	9.339000	0.96797	1.802000	0.52723	0.486000	0.48141	.		0.358	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		Intron	81	42	0	0	0	1	0	81	42				
MYO5A	4644	broad.mit.edu	37	15	52646191	52646191	+	Silent	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:52646191T>G	ENST00000399231.3	-	26	3687	c.3444A>C	c.(3442-3444)gtA>gtC	p.V1148V	MYO5A_ENST00000358212.6_Silent_p.V1148V|MYO5A_ENST00000553916.1_Silent_p.V1148V|MYO5A_ENST00000356338.6_Silent_p.V1148V|MYO5A_ENST00000399233.2_Silent_p.V1148V	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1148					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.V1148V(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGTCCAGAGGTACCTTCTTCT	0.488																																						ENST00000399231.3																			1	Substitution - coding silent(1)	p.V1148V(1)	kidney(1)	breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(3442-3444)gtA>gtC		myosin VA (heavy chain 12, myoxin)							101.0	104.0	103.0					15																	52646191		1988	4171	6159	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52646191T>G		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3444A>C	15.37:g.52646191T>G			Somatic				MYO5A_ENST00000553916.1_Silent_p.V1148V|MYO5A_ENST00000358212.6_Silent_p.V1148V|MYO5A_ENST00000356338.6_Silent_p.V1148V|MYO5A_ENST00000399233.2_Silent_p.V1148V	p.V1148V	NM_000259.3	NP_000250.3	WXS	Illumina GAIIx	Phase_I	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	26	3687	-			1148					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.3444A>C	CCDS42037.1																																																																																				0.488	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		57	110	0	0	0	1	0	57	110				
LETMD1	25875	broad.mit.edu	37	12	51447559	51447559	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:51447559A>T	ENST00000262055.4	+	4	429		c.e4-1		LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000418425.2_Splice_Site|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000550929.1_Splice_Site	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1							integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ATTTCTGCTTAGTTCCGCCAA	0.403																																						ENST00000418425.2																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						c.e4-1		LETM1 domain containing 1							288.0	248.0	262.0					12																	51447559		2203	4300	6503	SO:0001630	splice_region_variant	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51447559A>T	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.391-1A>T	12.37:g.51447559A>T			Somatic				LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000550929.1_Splice_Site|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000262055.4_Splice_Site|LETMD1_ENST00000380123.2_Intron		NM_001243689.1	NP_001230618.1	WXS	Illumina GAIIx	Phase_I	Q6P1Q0	LTMD1_HUMAN			4	448	+								A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Splice_Site	SNP	ENST00000262055.4	37		CCDS8806.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207058	0.79127	.	.	ENSG00000050426	ENST00000551477;ENST00000550755;ENST00000550929;ENST00000262055;ENST00000548209;ENST00000550814;ENST00000418425	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5147	0.67811	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LETMD1	49733826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.747000	0.74872	2.330000	0.79161	0.528000	0.53228	.		0.403	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416	Intron	11	742	0	0	0	1	0	11	742				
CWF19L1	55280	broad.mit.edu	37	10	102006678	102006678	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:102006678G>A	ENST00000354105.4	-	8	809	c.723C>T	c.(721-723)ttC>ttT	p.F241F	CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_5'Flank	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	241							catalytic activity (GO:0003824)	p.F241F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GAACAATACTGAACGCGTAAA	0.393																																						ENST00000354105.4																			1	Substitution - coding silent(1)	p.F241F(1)	kidney(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17						c.(721-723)ttC>ttT		CWF19-like 1, cell cycle control (S. pombe)							75.0	68.0	71.0					10																	102006678		2203	4300	6503	SO:0001819	synonymous_variant	55280						catalytic activity	g.chr10:102006678G>A	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.723C>T	10.37:g.102006678G>A			Somatic				CWF19L1_ENST00000478047.1_Intron	p.F241F	NM_018294.4	NP_060764.3	WXS	Illumina GAIIx	Phase_I	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	8	809	-		Colorectal(252;0.117)	241					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Silent	SNP	ENST00000354105.4	37	c.723C>T	CCDS7489.1																																																																																				0.393	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		28	21	0	0	0	1	0	28	21				
SIPA1	6494	broad.mit.edu	37	11	65413812	65413812	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:65413812C>T	ENST00000394224.3	+	7	1680	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	SIPA1_ENST00000394227.3_Missense_Mutation_p.R462W|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Missense_Mutation_p.R462W|SIPA1_ENST00000527525.1_Missense_Mutation_p.R462W	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	462	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CCTAGTGGTGCGGGCACACAC	0.642																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(1384-1386)Cgg>Tgg		signal-induced proliferation-associated 1							93.0	78.0	83.0					11																	65413812		2201	4297	6498	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65413812C>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.1384C>T	11.37:g.65413812C>T	ENSP00000377771:p.Arg462Trp		Somatic				SIPA1_ENST00000394227.3_Missense_Mutation_p.R462W|SIPA1_ENST00000527525.1_Missense_Mutation_p.R462W|SIPA1_ENST00000534313.1_Missense_Mutation_p.R462W	p.R462W	NM_153253.29	NP_694985.29	WXS	Illumina GAIIx	Phase_I	Q96FS4	SIPA1_HUMAN			7	1680	+			462			Rap-GAP.		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.1384C>T	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869343	0.51588	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35	4.03	3.12	0.35913	Rap/ran-GAP (2);	0.255725	0.25645	U	0.029253	D	0.95822	0.8640	M	0.92219	3.285	0.45690	D	0.998607	D;D	0.69078	0.997;0.988	P;P	0.54401	0.707;0.751	D	0.95400	0.8489	10	0.87932	D	0	-10.117	9.3459	0.38109	0.3895:0.6105:0.0:0.0	.	462;462	F6RY50;Q96FS4	.;SIPA1_HUMAN	W	462	ENSP00000436269:R462W;ENSP00000433686:R462W;ENSP00000377771:R462W;ENSP00000377774:R462W	ENSP00000377771:R462W	R	+	1	2	SIPA1	65170388	0.117000	0.22190	0.903000	0.35520	0.095000	0.18619	1.008000	0.29872	1.063000	0.40649	-0.372000	0.07161	CGG		0.642	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		3	60	0	0	0	1	0	3	60				
DDX39B	7919	broad.mit.edu	37	6	31503131	31503131	+	Intron	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:31503131G>A	ENST00000396172.1	-	6	1366				DDX39B_ENST00000415382.2_Intron|DDX39B_ENST00000376177.2_Intron|DDX39B_ENST00000458640.1_Intron|SNORD117_ENST00000364915.1_RNA|ATP6V1G2-DDX39B_ENST00000376185.1_Intron|DDX39B_ENST00000453105.2_Silent_p.L203L|DDX39B_ENST00000417556.2_Intron	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B						ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						agagaaggtagaagggTATTT	0.562																																						ENST00000453105.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(607-609)Cta>Tta		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B							217.0	131.0	162.0					6																	31503131		1511	2709	4220	SO:0001627	intron_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31503131G>A	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.735+12C>T	6.37:g.31503131G>A			Somatic				DDX39B_ENST00000417556.2_Intron|DDX39B_ENST00000415382.2_Intron|DDX39B_ENST00000376177.2_Intron|DDX39B_ENST00000396172.1_Intron|ATP6V1G2-DDX39B_ENST00000376185.1_Intron|DDX39B_ENST00000458640.1_Intron	p.L203L			WXS	Illumina GAIIx	Phase_I	Q13838	DX39B_HUMAN			5	793	-			0			Helicase ATP-binding.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Silent	SNP	ENST00000396172.1	37	c.607C>T	CCDS4697.1																																																																																				0.562	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		9	299	0	0	0	1	0	9	299				
LAMP5	24141	broad.mit.edu	37	20	9498720	9498720	+	Missense_Mutation	SNP	C	C	T	rs551662654		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:9498720C>T	ENST00000246070.2	+	5	1001	c.509C>T	c.(508-510)tCt>tTt	p.S170F	LAMP5_ENST00000427562.2_Missense_Mutation_p.S126F	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	170						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											CACCACCTCTCTGCCTTGGTC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		17945	0.0		0.0	False		,,,				2504	0.001					ENST00000246070.2																			0											c.(508-510)tCt>tTt		lysosomal-associated membrane protein family, member 5							110.0	86.0	94.0					20																	9498720		2203	4300	6503	SO:0001583	missense	24141					integral to membrane		g.chr20:9498720C>T	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.509C>T	20.37:g.9498720C>T	ENSP00000246070:p.Ser170Phe		Somatic				LAMP5_ENST00000427562.2_Missense_Mutation_p.S126F	p.S170F	NM_012261.3	NP_036393.1	WXS	Illumina GAIIx	Phase_I	Q9UJQ1	CT103_HUMAN			5	1001	+			170					B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	c.509C>T	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219262	0.79464	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.36878	1.23;1.23	5.93	5.93	0.95920	.	0.103994	0.64402	D	0.000002	T	0.43033	0.1229	L	0.29908	0.895	0.80722	D	1	P;P	0.41188	0.741;0.457	P;B	0.50934	0.654;0.343	T	0.03534	-1.1027	9	.	.	.	-12.6708	20.3539	0.98825	0.0:1.0:0.0:0.0	.	126;170	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	F	170;126	ENSP00000246070:S170F;ENSP00000406360:S126F	.	S	+	2	0	C20orf103	9446720	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.361000	0.79497	2.826000	0.97356	0.655000	0.94253	TCT		0.532	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		6	184	0	0	0	1	0	6	184				
IZUMO2	126123	broad.mit.edu	37	19	50657881	50657881	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:50657881A>C	ENST00000293405.3	-	6	599	c.599T>G	c.(598-600)tTt>tGt	p.F200C		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	200						integral component of membrane (GO:0016021)		p.F200C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CACGAAGACAAAGACAGCCAG	0.602																																						ENST00000293405.3																			1	Substitution - Missense(1)	p.F200C(1)	kidney(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(598-600)tTt>tGt		IZUMO family member 2							134.0	155.0	148.0					19																	50657881		2130	4237	6367	SO:0001583	missense	126123					integral to membrane		g.chr19:50657881A>C	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.599T>G	19.37:g.50657881A>C	ENSP00000293405:p.Phe200Cys		Somatic					p.F200C	NM_152358.2	NP_689571.2	WXS	Illumina GAIIx	Phase_I	Q6UXV1	IZUM2_HUMAN			6	599	-			200					Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	c.599T>G	CCDS12792.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.18|13.18	2.158760|2.158760	0.38119|0.38119	.|.	.|.	ENSG00000161652|ENSG00000161652	ENST00000293405|ENST00000377000	T|.	0.44881|.	0.91|.	3.32|3.32	3.32|3.32	0.38043|0.38043	.|.	.|1.397510	.|0.05177	.|N	.|0.500501	T|T	0.36908|0.36908	0.0984|0.0984	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	D|.	0.61697|.	0.99|.	P|.	0.53450|.	0.726|.	T|T	0.40421|0.40421	-0.9564|-0.9564	9|7	0.87932|0.87932	D|D	0|0	.|.	8.325|8.325	0.32151|0.32151	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	200|.	Q6UXV1|.	IZUM2_HUMAN|.	C|V	200|165	ENSP00000293405:F200C|.	ENSP00000293405:F200C|ENSP00000366199:L165V	F|L	-|-	2|1	0|2	IZUMO2|IZUMO2	55349693|55349693	0.011000|0.011000	0.17503|0.17503	0.007000|0.007000	0.13788|0.13788	0.013000|0.013000	0.08279|0.08279	3.325000|3.325000	0.52030|0.52030	1.746000|1.746000	0.51805|0.51805	0.254000|0.254000	0.18369|0.18369	TTT|TTG		0.602	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		123	195	0	0	0	1	0	123	195				
MT1X	4501	broad.mit.edu	37	16	56717132	56717132	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:56717132C>T	ENST00000394485.4	+	2	201	c.84C>T	c.(82-84)tcC>tcT	p.S28S	RP11-343H19.2_ENST00000567563.1_RNA|MT1X_ENST00000562939.1_Silent_p.S28S	NM_005952.3	NP_005943.1	P80297	MT1X_HUMAN	metallothionein 1X	28	Beta.				cellular response to cadmium ion (GO:0071276)|cellular response to erythropoietin (GO:0036018)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)|response to metal ion (GO:0010038)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(2)	2						AATGCACCTCCTGCAAGAAGA	0.577																																						ENST00000562939.1																			0				kidney(2)	2						c.(82-84)tcC>tcT		metallothionein 1X							90.0	80.0	83.0					16																	56717132		2198	4300	6498	SO:0001819	synonymous_variant	4501				response to metal ion		metal ion binding	g.chr16:56717132C>T	BC032338	CCDS10768.1	16q13	2010-10-20			ENSG00000187193	ENSG00000187193		"""Metallothioneins"""	7405	protein-coding gene	gene with protein product		156359		MT1		2286373, 8049263	Standard	NM_005952		Approved	MT-1l	uc002ejy.3	P80297	OTTHUMG00000133280	ENST00000394485.4:c.84C>T	16.37:g.56717132C>T			Somatic				RP11-343H19.2_ENST00000567563.1_RNA|MT1X_ENST00000394485.4_Silent_p.S28S	p.S28S			WXS	Illumina GAIIx	Phase_I	P80297	MT1X_HUMAN			2	155	+			28			Beta.		A8MUC7	Silent	SNP	ENST00000394485.4	37	c.84C>T	CCDS10768.1																																																																																				0.577	MT1X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257060.1	NM_005952		7	122	0	0	0	1	0	7	122				
TMEM116	89894	broad.mit.edu	37	12	112381091	112381091	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:112381091C>G	ENST00000550831.3	-	4	385	c.17G>C	c.(16-18)aGt>aCt	p.S6T	TMEM116_ENST00000437003.2_Missense_Mutation_p.S6T|TMEM116_ENST00000355445.3_Intron|TMEM116_ENST00000354825.3_Missense_Mutation_p.S6T|TMEM116_ENST00000549537.2_5'UTR|TMEM116_ENST00000552374.2_Missense_Mutation_p.S98T	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	6						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						GCTCTGTCCACTCTGGGTGTG	0.423																																						ENST00000354825.3																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						c.(16-18)aGt>aCt		transmembrane protein 116							180.0	165.0	170.0					12																	112381091		2203	4300	6503	SO:0001583	missense	89894					integral to membrane		g.chr12:112381091C>G	AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000550831.3:c.17G>C	12.37:g.112381091C>G	ENSP00000450377:p.Ser6Thr		Somatic				TMEM116_ENST00000552374.2_Missense_Mutation_p.S98T|TMEM116_ENST00000550831.3_Missense_Mutation_p.S6T|TMEM116_ENST00000437003.2_Missense_Mutation_p.S6T|TMEM116_ENST00000355445.3_Intron|TMEM116_ENST00000549537.2_5'UTR	p.S6T			WXS	Illumina GAIIx	Phase_I	Q8NCL8	TM116_HUMAN			7	672	-			6					G3V1W7|G5E985|Q6NSH5|Q8IZ66	Missense_Mutation	SNP	ENST00000550831.3	37	c.17G>C	CCDS9157.1	.	.	.	.	.	.	.	.	.	.	c	7.271	0.607196	0.14002	.	.	ENSG00000198270	ENST00000354825;ENST00000550831;ENST00000437003;ENST00000552374;ENST00000550037;ENST00000549425	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.22	0.731	0.18277	.	.	.	.	.	T	0.28797	0.0714	L	0.47716	1.5	0.20307	N	0.999913	P;B;B	0.37330	0.59;0.275;0.135	B;B;B	0.30782	0.118;0.12;0.12	T	0.10359	-1.0633	9	0.34782	T	0.22	.	6.213	0.20640	0.0:0.4913:0.0:0.5087	.	98;98;6	F8VNZ8;G3V1W7;Q8NCL8	.;.;TM116_HUMAN	T	6;6;6;98;98;98	ENSP00000346883:S6T;ENSP00000450377:S6T;ENSP00000395861:S6T;ENSP00000447731:S98T;ENSP00000446516:S98T;ENSP00000449774:S98T	ENSP00000346883:S6T	S	-	2	0	TMEM116	110865474	0.161000	0.22892	0.105000	0.21289	0.660000	0.38997	0.244000	0.18124	0.220000	0.20860	0.305000	0.20034	AGT		0.423	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341		11	328	0	0	0	1	0	11	328				
DOK6	220164	broad.mit.edu	37	18	67345001	67345001	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr18:67345001C>T	ENST00000382713.5	+	4	511	c.321C>T	c.(319-321)ctC>ctT	p.L107L	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	107	PH.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GCAAGCACCTCTGCATGGAGT	0.537																																						ENST00000382713.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20						c.(319-321)ctC>ctT		docking protein 6							122.0	112.0	115.0					18																	67345001		2203	4300	6503	SO:0001819	synonymous_variant	220164						insulin receptor binding	g.chr18:67345001C>T	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.321C>T	18.37:g.67345001C>T			Somatic				DOK6_ENST00000584435.1_3'UTR	p.L107L	NM_152721.5	NP_689934.2	WXS	Illumina GAIIx	Phase_I	Q6PKX4	DOK6_HUMAN			4	511	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	107			PH.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Silent	SNP	ENST00000382713.5	37	c.321C>T	CCDS32841.1																																																																																				0.537	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		20	192	0	0	0	1	0	20	192				
TOPORS	10210	broad.mit.edu	37	9	32541877	32541877	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:32541877A>T	ENST00000360538.2	-	3	2762	c.2646T>A	c.(2644-2646)caT>caA	p.H882Q	TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	882	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ttttctttttATGGTGTTTAG	0.373																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2644-2646)caT>caA		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							151.0	157.0	155.0					9																	32541877		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541877A>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2646T>A	9.37:g.32541877A>T	ENSP00000353735:p.His882Gln		Somatic				TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q	p.H882Q	NM_005802.4	NP_005793.2	WXS	Illumina GAIIx	Phase_I	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2762	-			882			Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2646T>A	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244297	0.39697	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.15017	2.46;2.47	5.91	4.76	0.60689	.	0.000000	0.49305	D	0.000157	T	0.09555	0.0235	L	0.29908	0.895	0.32113	N	0.589054	P	0.35272	0.493	B	0.28991	0.097	T	0.17561	-1.0365	10	0.24483	T	0.36	-15.314	5.0089	0.14302	0.6863:0.1565:0.1572:0.0	.	882	Q9NS56	TOPRS_HUMAN	Q	882;817	ENSP00000353735:H882Q;ENSP00000369187:H817Q	ENSP00000353735:H882Q	H	-	3	2	TOPORS	32531877	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.101000	0.31037	1.058000	0.40530	0.528000	0.53228	CAT		0.373	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		6	167	0	0	0	1	0	6	167				
EFR3A	23167	broad.mit.edu	37	8	132962214	132962214	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:132962214A>T	ENST00000254624.5	+	5	591		c.e5-1		EFR3A_ENST00000334503.4_Splice_Site|EFR3A_ENST00000519656.1_Splice_Site	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)							extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TGTGTTTTTTAGTTTGTCAAA	0.308																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.e5-1		EFR3 homolog A (S. cerevisiae)							60.0	54.0	56.0					8																	132962214		2202	4299	6501	SO:0001630	splice_region_variant	23167					plasma membrane	binding	g.chr8:132962214A>T	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.367-1A>T	8.37:g.132962214A>T			Somatic				EFR3A_ENST00000334503.4_Splice_Site|EFR3A_ENST00000519656.1_Splice_Site		NM_015137.4	NP_055952.2	WXS	Illumina GAIIx	Phase_I	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		5	591	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)							A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Splice_Site	SNP	ENST00000254624.5	37		CCDS34942.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.059397	0.76074	.	.	ENSG00000132294	ENST00000254624;ENST00000522709;ENST00000377917;ENST00000334503;ENST00000519656	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8088	0.69977	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EFR3A	133031396	1.000000	0.71417	0.976000	0.42696	0.866000	0.49608	7.486000	0.81215	2.082000	0.62665	0.455000	0.32223	.		0.308	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137	Intron	5	20	0	0	0	1	0	5	20				
BIRC6	57448	broad.mit.edu	37	2	32740067	32740067	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:32740067A>T	ENST00000421745.2	+	55	10713	c.10579A>T	c.(10579-10581)Aat>Tat	p.N3527Y		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3527					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTTACTTTTTAATTGGTCCAT	0.294																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(10579-10581)Aat>Tat		baculoviral IAP repeat containing 6							73.0	77.0	75.0					2																	32740067		2202	4300	6502	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32740067A>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10579A>T	2.37:g.32740067A>T	ENSP00000393596:p.Asn3527Tyr		Somatic					p.N3527Y	NM_016252.3	NP_057336.3	WXS	Illumina GAIIx	Phase_I	Q9NR09	BIRC6_HUMAN			55	10713	+	Acute lymphoblastic leukemia(172;0.155)		3527					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10579A>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133744	0.77662	.	.	ENSG00000115760	ENST00000421745	T	0.75260	-0.92	5.68	5.68	0.88126	.	0.097124	0.64402	D	0.000002	T	0.75852	0.3906	L	0.34521	1.04	0.54753	D	0.999982	P	0.43885	0.82	P	0.52267	0.694	T	0.78602	-0.2140	10	0.72032	D	0.01	.	15.9332	0.79683	1.0:0.0:0.0:0.0	.	3527	Q9NR09	BIRC6_HUMAN	Y	3527	ENSP00000393596:N3527Y	ENSP00000393596:N3527Y	N	+	1	0	BIRC6	32593571	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.164000	0.68074	0.477000	0.44152	AAT		0.294	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		7	92	0	0	0	1	0	7	92				
TCHH	7062	broad.mit.edu	37	1	152080608	152080608	+	Silent	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:152080608T>C	ENST00000368804.1	-	2	5084	c.5085A>G	c.(5083-5085)gaA>gaG	p.E1695E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1695	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTTCCTCTTCGCGGAATT	0.577																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(5083-5085)gaA>gaG		trichohyalin							92.0	90.0	91.0					1																	152080608		1895	4118	6013	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080608T>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5085A>G	1.37:g.152080608T>C			Somatic					p.E1695E	NM_007113.2	NP_009044.2	WXS	Illumina GAIIx	Phase_I	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5084	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1695			23 X 26 AA approximate tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.5085A>G	CCDS41396.1																																																																																				0.577	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		4	352	0	0	0	1	0	4	352				
EPRS	2058	broad.mit.edu	37	1	220198598	220198598	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:220198598T>A	ENST00000366923.3	-	7	895	c.626A>T	c.(625-627)tAc>tTc	p.Y209F		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	209	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	AATGTGTAAGTAACTAAAACA	0.333																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(625-627)tAc>tTc		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						89.0	85.0	86.0					1																	220198598		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220198598T>A	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.626A>T	1.37:g.220198598T>A	ENSP00000355890:p.Tyr209Phe		Somatic					p.Y209F	NM_004446.2	NP_004437.2	WXS	Illumina GAIIx	Phase_I	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	7	895	-			209			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.626A>T	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.154990	0.78114	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.23950	1.88	5.63	5.63	0.86233	Aminoacyl-tRNA synthetase, class I, conserved site (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.109696	0.64402	D	0.000004	T	0.45418	0.1341	L	0.48877	1.53	0.80722	D	1	P;D;D	0.89917	0.848;0.985;1.0	P;D;D	0.91635	0.536;0.933;0.999	T	0.30297	-0.9983	10	0.51188	T	0.08	-16.1356	16.1413	0.81528	0.0:0.0:0.0:1.0	.	209;209;209	F5H7I7;Q3KQZ8;P07814	.;.;SYEP_HUMAN	F	209	ENSP00000355890:Y209F	ENSP00000355890:Y209F	Y	-	2	0	EPRS	218265221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.278000	0.78587	2.270000	0.75569	0.482000	0.46254	TAC		0.333	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		3	34	0	0	0	1	0	3	34				
FER1L6	654463	broad.mit.edu	37	8	125072866	125072866	+	Silent	SNP	C	C	T	rs369624500		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:125072866C>T	ENST00000522917.1	+	24	3269	c.3063C>T	c.(3061-3063)tgC>tgT	p.C1021C	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Silent_p.C1021C	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1021						integral component of membrane (GO:0016021)		p.C1021C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCATTGAGTGCGGAGGACAAG	0.547																																						ENST00000522917.1																			1	Substitution - coding silent(1)	p.C1021C(1)	kidney(1)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(3061-3063)tgC>tgT		fer-1-like 6 (C. elegans)							144.0	126.0	132.0					8																	125072866		2203	4300	6503	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125072866C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3063C>T	8.37:g.125072866C>T			Somatic				FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.C1021C	p.C1021C	NM_001039112.2	NP_001034201.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		24	3269	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1021						Silent	SNP	ENST00000522917.1	37	c.3063C>T	CCDS43767.1																																																																																				0.547	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		85	135	0	0	0	1	0	85	135				
VPS53	55275	broad.mit.edu	37	17	456619	456619	+	Splice_Site	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:456619C>T	ENST00000571805.1	-	16	1924		c.e16+1		VPS53_ENST00000291074.5_Splice_Site|VPS53_ENST00000401468.3_Splice_Site|RP5-1029F21.2_ENST00000574008.1_RNA|VPS53_ENST00000437048.2_Splice_Site|VPS53_ENST00000446250.2_Splice_Site|VPS53_ENST00000576149.1_Splice_Site|VPS53_ENST00000574029.1_Intron			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)						protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		AGGGTACATACGTGCTGAACG	0.493																																						ENST00000437048.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.e16+1		vacuolar protein sorting 53 homolog (S. cerevisiae)							280.0	196.0	224.0					17																	456619		2203	4300	6503	SO:0001630	splice_region_variant	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:456619C>T		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1787+1G>A	17.37:g.456619C>T			Somatic				RP5-1029F21.2_ENST00000574008.1_RNA|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_Splice_Site|VPS53_ENST00000571805.1_Splice_Site|VPS53_ENST00000446250.2_Splice_Site|VPS53_ENST00000401468.3_Splice_Site|VPS53_ENST00000291074.5_Splice_Site		NM_001128159.2	NP_001121631.1	WXS	Illumina GAIIx	Phase_I	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	16	1934	-								A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Splice_Site	SNP	ENST00000571805.1	37			.	.	.	.	.	.	.	.	.	.	C	17.34	3.365085	0.61513	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000401468	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.229	0.86979	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS53	403369	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	7.388000	0.79795	2.817000	0.96982	0.643000	0.83706	.		0.493	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289	Intron	16	164	0	0	0	1	0	16	164				
USP26	83844	broad.mit.edu	37	X	132161721	132161721	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chrX:132161721C>A	ENST00000511190.1	-	6	997	c.528G>T	c.(526-528)caG>caT	p.Q176H	USP26_ENST00000406273.1_Missense_Mutation_p.Q176H|USP26_ENST00000370832.1_Missense_Mutation_p.Q176H	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	176					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.Q176H(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCTTCTTGTGCTGATTTTCTG	0.383																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			1	Substitution - Missense(1)	p.Q176H(1)	kidney(1)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(526-528)caG>caT		ubiquitin specific peptidase 26							102.0	85.0	91.0					X																	132161721		2203	4299	6502	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132161721C>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.528G>T	X.37:g.132161721C>A	ENSP00000423390:p.Gln176His		Somatic				USP26_ENST00000406273.1_Missense_Mutation_p.Q176H|USP26_ENST00000370832.1_Missense_Mutation_p.Q176H	p.Q176H	NM_031907.1	NP_114113.1	WXS	Illumina GAIIx	Phase_I	Q9BXU7	UBP26_HUMAN			6	997	-	Acute lymphoblastic leukemia(192;0.000127)		176					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.528G>T	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.611224	0.28712	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.55930	0.49;0.49;0.49	3.79	-5.31	0.02730	.	1.944920	0.03599	N	0.233167	T	0.57755	0.2075	L	0.34521	1.04	0.09310	N	1	D	0.61697	0.99	P	0.61800	0.894	T	0.62248	-0.6894	10	0.72032	D	0.01	4.371	11.7888	0.52057	0.0:0.6662:0.0:0.3338	.	176	Q9BXU7	UBP26_HUMAN	H	176	ENSP00000359869:Q176H;ENSP00000423390:Q176H;ENSP00000384360:Q176H	ENSP00000359869:Q176H	Q	-	3	2	USP26	131989387	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.650000	0.00858	-1.340000	0.02227	-0.505000	0.04504	CAG		0.383	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		76	38	1	0	3.61922e-38	1	3.85989e-38	76	38				
HKR1	284459	broad.mit.edu	37	19	37854260	37854260	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:37854260G>A	ENST00000324411.4	+	6	1832	c.1563G>A	c.(1561-1563)ggG>ggA	p.G521G	HKR1_ENST00000589392.1_Silent_p.G503G|HKR1_ENST00000544914.1_Silent_p.G248G|HKR1_ENST00000392153.3_Silent_p.G502G|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000591471.1_Silent_p.G248G|HKR1_ENST00000541583.2_Silent_p.G460G	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	521					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACACTCAGGGGAGAAGCCAT	0.512																																						ENST00000591471.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(742-744)ggG>ggA		HKR1, GLI-Kruppel zinc finger family member							70.0	66.0	67.0					19																	37854260		2203	4300	6503	SO:0001819	synonymous_variant	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37854260G>A	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1563G>A	19.37:g.37854260G>A			Somatic				HKR1_ENST00000589392.1_Silent_p.G503G|HKR1_ENST00000392153.3_Silent_p.G502G|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_Silent_p.G248G|HKR1_ENST00000541583.2_Silent_p.G460G|HKR1_ENST00000324411.4_Silent_p.G521G	p.G248G			WXS	Illumina GAIIx	Phase_I	P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		9	2385	+			521					A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Silent	SNP	ENST00000324411.4	37	c.744G>A	CCDS12502.1																																																																																				0.512	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		5	150	0	0	0	1	0	5	150				
WFDC8	90199	broad.mit.edu	37	20	44187563	44187563	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:44187563C>T	ENST00000357199.4	-	3	283	c.205G>A	c.(205-207)Gat>Aat	p.D69N	WFDC8_ENST00000289953.2_Missense_Mutation_p.D69N|RNA5SP485_ENST00000365053.1_RNA	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	69	WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CAGTCAAAATCTGTGTTACAT	0.468																																						ENST00000357199.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(205-207)Gat>Aat		WAP four-disulfide core domain 8							198.0	177.0	184.0					20																	44187563		2203	4300	6503	SO:0001583	missense	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44187563C>T	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.205G>A	20.37:g.44187563C>T	ENSP00000361735:p.Asp69Asn		Somatic				WFDC8_ENST00000289953.2_Missense_Mutation_p.D69N	p.D69N	NM_181510.2	NP_852611.2	WXS	Illumina GAIIx	Phase_I	Q8IUA0	WFDC8_HUMAN			3	283	-		Myeloproliferative disorder(115;0.0122)	69			WAP 1.		E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	ENST00000357199.4	37	c.205G>A	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542323	0.65198	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	D;D	0.90955	-2.76;-2.76	4.75	4.75	0.60458	Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	0.000000	0.51477	D	0.000093	D	0.95730	0.8611	M	0.91140	3.18	0.20074	N	0.999938	D	0.89917	1.0	D	0.97110	1.0	D	0.89894	0.4039	10	0.35671	T	0.21	.	13.4436	0.61127	0.0:1.0:0.0:0.0	.	69	Q8IUA0	WFDC8_HUMAN	N	69	ENSP00000361735:D69N;ENSP00000289953:D69N	ENSP00000289953:D69N	D	-	1	0	WFDC8	43620977	0.889000	0.30405	0.098000	0.21074	0.003000	0.03518	3.207000	0.51106	2.629000	0.89072	0.655000	0.94253	GAT		0.468	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			6	514	0	0	0	1	0	6	514				
DCDC2	51473	broad.mit.edu	37	6	24178707	24178707	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:24178707C>A	ENST00000378454.3	-	9	1478	c.1177G>T	c.(1177-1179)Gat>Tat	p.D393Y	DCDC2_ENST00000378450.3_Missense_Mutation_p.D146Y	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	393					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TCACTGTGATCCAGAATCTCC	0.512																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1177-1179)Gat>Tat		doublecortin domain containing 2							217.0	184.0	195.0					6																	24178707		2203	4300	6503	SO:0001583	missense	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24178707C>A	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.1177G>T	6.37:g.24178707C>A	ENSP00000367715:p.Asp393Tyr		Somatic				DCDC2_ENST00000378450.3_Missense_Mutation_p.D146Y	p.D393Y	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	WXS	Illumina GAIIx	Phase_I	Q9UHG0	DCDC2_HUMAN			9	1478	-		Ovarian(999;0.101)	393					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	c.1177G>T	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	c	15.74	2.924096	0.52653	.	.	ENSG00000146038	ENST00000378454;ENST00000378450	T;T	0.53640	4.17;0.61	5.25	4.38	0.52667	.	0.692740	0.13760	N	0.364672	T	0.27731	0.0682	L	0.29908	0.895	0.09310	N	1	B;P	0.35908	0.132;0.527	B;B	0.43386	0.118;0.418	T	0.25537	-1.0129	10	0.59425	D	0.04	-0.5045	12.2453	0.54566	0.0:0.8288:0.1712:0.0	.	393;146	Q9UHG0;Q9UHG0-2	DCDC2_HUMAN;.	Y	393;146	ENSP00000367715:D393Y;ENSP00000367711:D146Y	ENSP00000367711:D146Y	D	-	1	0	DCDC2	24286686	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	1.328000	0.33758	1.316000	0.45131	0.651000	0.88453	GAT		0.512	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		24	139	1	0	1.33986e-20	1	1.42531e-20	24	139				
FMO1	2326	broad.mit.edu	37	1	171251249	171251249	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:171251249G>A	ENST00000354841.4	+	6	1091	c.960G>A	c.(958-960)gaG>gaA	p.E320E	FMO1_ENST00000402921.2_Silent_p.E257E|FMO1_ENST00000367750.3_Silent_p.E320E|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	320					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CAAAGGAAGAGCCTATTGACA	0.433																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(958-960)gaG>gaA		flavin containing monooxygenase 1							154.0	140.0	145.0					1																	171251249		2203	4300	6503	SO:0001819	synonymous_variant	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171251249G>A	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.960G>A	1.37:g.171251249G>A			Somatic				FMO1_ENST00000402921.2_Silent_p.E257E|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Silent_p.E320E	p.E320E			WXS	Illumina GAIIx	Phase_I	Q01740	FMO1_HUMAN			6	1091	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		320					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Silent	SNP	ENST00000354841.4	37	c.960G>A	CCDS1294.1																																																																																				0.433	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		4	385	0	0	0	1	0	4	385				
PNMAL1	55228	broad.mit.edu	37	19	46973225	46973225	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:46973225C>T	ENST00000313683.10	-	2	1373	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	PNMAL1_ENST00000438932.2_Silent_p.K356K|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	356										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GAGCGGGGTTCTTGGCAGACA	0.587																																						ENST00000313683.10																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1066-1068)aaG>aaA		paraneoplastic Ma antigen family-like 1							134.0	145.0	141.0					19																	46973225		2203	4300	6503	SO:0001819	synonymous_variant	55228							g.chr19:46973225C>T	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.1068G>A	19.37:g.46973225C>T			Somatic				PNMAL1_ENST00000438932.2_Silent_p.K356K|PNMAL1_ENST00000602246.1_Intron	p.K356K	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	WXS	Illumina GAIIx	Phase_I	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	1373	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	356					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Silent	SNP	ENST00000313683.10	37	c.1068G>A	CCDS33059.1																																																																																				0.587	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		7	753	0	0	0	1	0	7	753				
ALG10B	144245	broad.mit.edu	37	12	38714227	38714227	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:38714227G>A	ENST00000308742.4	+	3	950	c.634G>A	c.(634-636)Gag>Aag	p.E212K	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	212					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)	p.E212Q(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTGGAAAACTGAGCTACAAAA	0.388																																						ENST00000308742.4																			1	Substitution - Missense(1)	p.E212Q(1)	lung(1)	breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(634-636)Gag>Aag		ALG10B, alpha-1,2-glucosyltransferase							127.0	130.0	129.0					12																	38714227		2203	4299	6502	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714227G>A	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.634G>A	12.37:g.38714227G>A	ENSP00000310120:p.Glu212Lys		Somatic				ALG10B_ENST00000551464.1_Intron	p.E212K	NM_001013620.3	NP_001013642.1	WXS	Illumina GAIIx	Phase_I	Q5I7T1	AG10B_HUMAN			3	950	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	212					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.634G>A	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	N	13.66	2.302650	0.40795	.	.	ENSG00000175548	ENST00000308742	T	0.54866	0.55	3.24	3.24	0.37175	.	0.206155	0.49916	D	0.000121	T	0.33702	0.0872	L	0.36672	1.1	0.80722	D	1	P	0.36633	0.562	B	0.34180	0.177	T	0.11690	-1.0577	10	0.07325	T	0.83	.	8.6417	0.33981	0.0:0.2359:0.7641:0.0	.	212	Q5I7T1	AG10B_HUMAN	K	212	ENSP00000310120:E212K	ENSP00000310120:E212K	E	+	1	0	ALG10B	37000494	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	4.753000	0.62183	2.115000	0.64714	0.549000	0.68633	GAG		0.388	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		9	219	0	0	0	1	0	9	219				
PPFIA2	8499	broad.mit.edu	37	12	81675169	81675169	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:81675169C>T	ENST00000549396.1	-	27	3239	c.3079G>A	c.(3079-3081)Gaa>Aaa	p.E1027K	RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E1021K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E1012K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E922K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E926K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E1006K|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E213K|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E563K|PPFIA2_ENST00000550584.2_Missense_Mutation_p.E1027K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E1012K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E874K	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1027	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.E1027K(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGAAGCCATTCATTTCCAATC	0.393																																						ENST00000550584.2																			1	Substitution - Missense(1)	p.E1027K(1)	kidney(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(3079-3081)Gaa>Aaa		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							121.0	116.0	117.0					12																	81675169		1846	4118	5964	SO:0001583	missense	8499							g.chr12:81675169C>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3079G>A	12.37:g.81675169C>T	ENSP00000450337:p.Glu1027Lys		Somatic				PPFIA2_ENST00000552948.1_Missense_Mutation_p.E1006K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E926K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E1012K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E1012K|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E213K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E1027K|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E563K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E1021K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E922K|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E874K	p.E1027K	NM_001220473.1	NP_001207402.1	WXS	Illumina GAIIx	Phase_I	B7Z663	B7Z663_HUMAN			26	3374	-			926					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.3079G>A	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.033880|4.033880	0.75504|0.75504	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000550018	T;T;T;T;T;T;T;T;T|.	0.56611|.	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45|.	5.61|5.61	4.72|4.72	0.59763|0.59763	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71771|0.71771	0.3379|0.3379	M|M	0.68952|0.68952	2.095|2.095	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.53619|.	0.961|.	D|.	0.75020|.	0.985|.	T|T	0.71922|0.71922	-0.4446|-0.4446	10|5	0.62326|.	D|.	0.03|.	-20.6198|-20.6198	14.9868|14.9868	0.71353|0.71353	0.0:0.9311:0.0:0.0689|0.0:0.9311:0.0:0.0689	.|.	1027|.	O75334|.	LIPA2_HUMAN|.	K|I	1027;1012;563;213;926;1038;1012;1021;922;1006|129	ENSP00000450337:E1027K;ENSP00000450298:E1012K;ENSP00000438337:E563K;ENSP00000445532:E213K;ENSP00000385093:E926K;ENSP00000327416:E1012K;ENSP00000449338:E1021K;ENSP00000388373:E922K;ENSP00000447868:E1006K|.	ENSP00000327416:E1012K|.	E|M	-|-	1|3	0|0	PPFIA2|PPFIA2	80199300|80199300	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.975000|0.975000	0.68041|0.68041	7.722000|7.722000	0.84778|0.84778	1.511000|1.511000	0.48818|0.48818	0.555000|0.555000	0.69702|0.69702	GAA|ATG		0.393	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			52	86	0	0	0	1	0	52	86				
SSFA2	6744	broad.mit.edu	37	2	182766972	182766972	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:182766972G>C	ENST00000431877.2	+	8	1371	c.1192G>C	c.(1192-1194)Gaa>Caa	p.E398Q	SSFA2_ENST00000409001.1_Missense_Mutation_p.E398Q|SSFA2_ENST00000320370.7_Missense_Mutation_p.E398Q|SSFA2_ENST00000428267.2_Missense_Mutation_p.E245Q	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	398						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E398Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACAAAGTAAAGAAACTCAAAG	0.363																																						ENST00000431877.2																			1	Substitution - Missense(1)	p.E398Q(1)	kidney(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(1192-1194)Gaa>Caa		sperm specific antigen 2							66.0	71.0	69.0					2																	182766972		2201	4298	6499	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182766972G>C	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1192G>C	2.37:g.182766972G>C	ENSP00000388731:p.Glu398Gln		Somatic				SSFA2_ENST00000409001.1_Missense_Mutation_p.E398Q|SSFA2_ENST00000320370.7_Missense_Mutation_p.E398Q|SSFA2_ENST00000428267.2_Missense_Mutation_p.E245Q	p.E398Q	NM_001130445.1	NP_001123917.1	WXS	Illumina GAIIx	Phase_I	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		8	1371	+			398					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.1192G>C	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	7.223	0.597826	0.13875	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.15487	2.65;2.42;2.65;2.65	5.61	2.87	0.33458	.	1.257190	0.05280	N	0.519226	T	0.18383	0.0441	M	0.63428	1.95	0.09310	N	1	P;P;P;P	0.35272	0.493;0.493;0.493;0.493	B;B;B;B	0.31101	0.124;0.124;0.079;0.124	T	0.31166	-0.9953	10	0.23891	T	0.37	-0.5456	7.3748	0.26823	0.3913:0.0:0.6087:0.0	.	245;398;398;398	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	Q	398;398;398;245	ENSP00000388731:E398Q;ENSP00000314669:E398Q;ENSP00000387319:E398Q;ENSP00000409867:E245Q	ENSP00000314669:E398Q	E	+	1	0	SSFA2	182475217	0.562000	0.26586	0.146000	0.22360	0.282000	0.26991	1.410000	0.34691	0.425000	0.26087	0.650000	0.86243	GAA		0.363	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		24	71	0	0	0	1	0	24	71				
MAP3K1	4214	broad.mit.edu	37	5	56178361	56178361	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:56178361G>A	ENST00000399503.3	+	14	3334	c.3334G>A	c.(3334-3336)Gtg>Atg	p.V1112M		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1112					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGACGAGACAGTGTTCACCCC	0.423																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(3334-3336)Gtg>Atg		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							122.0	117.0	118.0					5																	56178361		1986	4177	6163	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56178361G>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3334G>A	5.37:g.56178361G>A	ENSP00000382423:p.Val1112Met		Somatic					p.V1112M	NM_005921.1	NP_005912.1	WXS	Illumina GAIIx	Phase_I	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	3334	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1112						Missense_Mutation	SNP	ENST00000399503.3	37	c.3334G>A	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030815	0.54790	.	.	ENSG00000095015	ENST00000399503	T	0.69806	-0.43	5.86	5.86	0.93980	.	0.132031	0.50627	D	0.000112	T	0.67776	0.2929	L	0.47716	1.5	0.51012	D	0.999902	P	0.42123	0.771	B	0.43575	0.424	T	0.68326	-0.5438	10	0.52906	T	0.07	.	20.1772	0.98182	0.0:0.0:1.0:0.0	.	1112	Q13233	M3K1_HUMAN	M	1112	ENSP00000382423:V1112M	ENSP00000382423:V1112M	V	+	1	0	MAP3K1	56214118	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	6.241000	0.72369	2.778000	0.95560	0.655000	0.94253	GTG		0.423	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		23	229	0	0	0	1	0	23	229				
HEATR1	55127	broad.mit.edu	37	1	236759191	236759191	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:236759191C>T	ENST00000366582.3	-	7	1012	c.898G>A	c.(898-900)Ggg>Agg	p.G300R	HEATR1_ENST00000366581.2_Missense_Mutation_p.G300R|HEATR1_ENST00000483073.1_5'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	300					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CAACTTAACCCATCCTTGATC	0.408																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(898-900)Ggg>Agg		HEAT repeat containing 1							122.0	112.0	115.0					1																	236759191		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236759191C>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.898G>A	1.37:g.236759191C>T	ENSP00000355541:p.Gly300Arg		Somatic				HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Missense_Mutation_p.G300R	p.G300R	NM_018072.5	NP_060542.4	WXS	Illumina GAIIx	Phase_I	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		7	1012	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	300					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.898G>A	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083620	0.94050	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.67171	-0.21;-0.25	5.3	5.3	0.74995	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81950	0.4931	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82948	-0.0204	10	0.62326	D	0.03	.	19.3085	0.94175	0.0:1.0:0.0:0.0	.	300	Q9H583	HEAT1_HUMAN	R	300	ENSP00000355541:G300R;ENSP00000355540:G300R	ENSP00000355540:G300R	G	-	1	0	HEATR1	234825814	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.262000	0.78410	2.642000	0.89623	0.591000	0.81541	GGG		0.408	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		4	195	0	0	0	1	0	4	195				
BAG6	7917	broad.mit.edu	37	6	31612931	31612931	+	Silent	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:31612931C>G	ENST00000375964.6	-	10	1492	c.1179G>C	c.(1177-1179)cgG>cgC	p.R393R	BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000404765.2_Silent_p.R387R|BAG6_ENST00000211379.5_Silent_p.R387R|BAG6_ENST00000362049.6_Silent_p.R387R|BAG6_ENST00000439687.2_Silent_p.R387R|BAG6_ENST00000375976.4_Silent_p.R387R	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	393	4 X 29 AA approximate repeats.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TTGGGGGGGGCCGAGTCCCAT	0.557																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(1159-1161)cgG>cgC		BCL2-associated athanogene 6							77.0	93.0	87.0					6																	31612931		1509	2707	4216	SO:0001819	synonymous_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31612931C>G	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.1179G>C	6.37:g.31612931C>G			Somatic				BAG6_ENST00000362049.6_Silent_p.R387R|BAG6_ENST00000211379.5_Silent_p.R387R|BAG6_ENST00000375976.4_Silent_p.R387R|BAG6_ENST00000375964.6_Silent_p.R393R|BAG6_ENST00000439687.2_Silent_p.R387R	p.R387R			WXS	Illumina GAIIx	Phase_I	P46379	BAG6_HUMAN			10	1450	-			393			4 X 29 AA approximate repeats.		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Silent	SNP	ENST00000375964.6	37	c.1161G>C	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	C	4.577	0.107223	0.08780	.	.	ENSG00000204463	ENST00000453833	.	.	.	4.82	2.82	0.32997	.	.	.	.	.	T	0.10680	0.0261	.	.	.	0.24084	N	0.995931	.	.	.	.	.	.	T	0.24333	-1.0163	4	.	.	.	.	4.0915	0.09972	0.1802:0.579:0.1505:0.0903	.	.	.	.	P	48	.	.	A	-	1	0	BAG6	31720910	0.270000	0.24152	0.998000	0.56505	0.520000	0.34377	-0.411000	0.07142	0.947000	0.37659	0.650000	0.86243	GCC		0.557	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		5	190	0	0	0	1	0	5	190				
MYCBP2	23077	broad.mit.edu	37	13	77655603	77655603	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr13:77655603G>A	ENST00000544440.2	-	65	11280	c.11263C>T	c.(11263-11265)Cgc>Tgc	p.R3755C	MYCBP2-AS2_ENST00000428716.2_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3755C|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R3793C|MYCBP2-AS1_ENST00000593933.1_RNA					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GACACATAGCGGGCATTGATT	0.413																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(11377-11379)Cgc>Tgc		MYC binding protein 2, E3 ubiquitin protein ligase							283.0	252.0	262.0					13																	77655603		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77655603G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.11263C>T	13.37:g.77655603G>A	ENSP00000444596:p.Arg3755Cys		Somatic				MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3755C|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3755C	p.R3793C	NM_015057.4	NP_055872.4	WXS	Illumina GAIIx	Phase_I	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	65	11643	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3755			DOC.			Missense_Mutation	SNP	ENST00000544440.2	37	c.11377C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.71|17.71	3.456012|3.456012	0.63401|0.63401	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000429715|ENST00000357337;ENST00000407578;ENST00000544440	.|T;T;T	.|0.64618	.|-0.11;-0.11;-0.11	5.33|5.33	5.33|5.33	0.75918|0.75918	.|Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	.|0.195509	.|0.46758	.|D	.|0.000274	T|T	0.61009|0.61009	0.2313|0.2313	L|L	0.42245|0.42245	1.32|1.32	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.56968	.|0.978	.|P	.|0.44477	.|0.451	T|T	0.67417|0.67417	-0.5676|-0.5676	5|10	.|0.87932	.|D	.|0	.|.	19.0092|19.0092	0.92865|0.92865	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3755	.|O75592	.|MYCB2_HUMAN	L|C	178|3755;3793;3755	.|ENSP00000349892:R3755C;ENSP00000384288:R3793C;ENSP00000444596:R3755C	.|ENSP00000349892:R3755C	P|R	-|-	2|1	0|0	MYCBP2|MYCBP2	76553604|76553604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.225000|5.225000	0.65294|0.65294	2.478000|2.478000	0.83669|0.83669	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.413	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		4	440	0	0	0	1	0	4	440				
AHNAK2	113146	broad.mit.edu	37	14	105421827	105421827	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:105421827C>T	ENST00000333244.5	-	5	578	c.459G>A	c.(457-459)ttG>ttA	p.L153L	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	153	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCTTCTCTCAAGTTAAAAA	0.582																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(457-459)ttG>ttA		AHNAK nucleoprotein 2							75.0	82.0	80.0					14																	105421827		1997	4169	6166	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105421827C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.459G>A	14.37:g.105421827C>T			Somatic					p.L153L	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		5	578	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	153			PDZ.		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.459G>A	CCDS45177.1																																																																																				0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		8	31	0	0	0	1	0	8	31				
ZNF511	118472	broad.mit.edu	37	10	135123728	135123728	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:135123728C>T	ENST00000359035.3	+	4	493	c.490C>T	c.(490-492)Cac>Tac	p.H164Y	TUBGCP2_ENST00000470829.1_5'Flank|TUBGCP2_ENST00000368563.2_5'Flank|ZNF511_ENST00000361518.5_Missense_Mutation_p.H164Y|ZNF511_ENST00000368554.4_Missense_Mutation_p.H99Y|TUBGCP2_ENST00000417178.2_5'Flank|ZNF511_ENST00000463816.2_3'UTR			Q8NB15	ZN511_HUMAN	zinc finger protein 511	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CCGGAAGGATCACATGGTGAG	0.552																																						ENST00000359035.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(490-492)Cac>Tac		zinc finger protein 511							108.0	108.0	108.0					10																	135123728		2203	4300	6503	SO:0001583	missense	118472				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:135123728C>T	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.490C>T	10.37:g.135123728C>T	ENSP00000351929:p.His164Tyr		Somatic				ZNF511_ENST00000361518.5_Missense_Mutation_p.H164Y|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Missense_Mutation_p.H99Y	p.H164Y			WXS	Illumina GAIIx	Phase_I	Q8NB15	ZN511_HUMAN		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)	4	493	+		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	164					A8K8L5|Q8WUP1|Q96BV2	Missense_Mutation	SNP	ENST00000359035.3	37	c.490C>T		.	.	.	.	.	.	.	.	.	.	C	18.18	3.567711	0.65651	.	.	ENSG00000198546	ENST00000361518;ENST00000359035;ENST00000368554	T;T;T	0.66815	-0.23;-0.23;-0.23	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.86372	0.5917	M	0.92833	3.35	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.89301	0.3626	10	0.87932	D	0	-29.3811	18.0835	0.89451	0.0:1.0:0.0:0.0	.	164;99;164	Q8NB15;E1U340;Q8NB15-2	ZN511_HUMAN;.;.	Y	164;164;99	ENSP00000355251:H164Y;ENSP00000351929:H164Y;ENSP00000357542:H99Y	ENSP00000351929:H164Y	H	+	1	0	ZNF511	134973718	1.000000	0.71417	0.995000	0.50966	0.112000	0.19704	7.046000	0.76592	2.701000	0.92244	0.655000	0.94253	CAC		0.552	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	NM_145806		34	31	0	0	0	1	0	34	31				
ARMC8	25852	broad.mit.edu	37	3	137960814	137960814	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:137960814G>A	ENST00000469044.1	+	11	1298	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	ARMC8_ENST00000491704.1_Missense_Mutation_p.D301N|ARMC8_ENST00000358441.2_Missense_Mutation_p.D329N|ARMC8_ENST00000470821.1_Missense_Mutation_p.D343N|ARMC8_ENST00000471453.1_Missense_Mutation_p.D329N|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000485396.1_Missense_Mutation_p.D270N|ARMC8_ENST00000489213.1_Missense_Mutation_p.D301N|ARMC8_ENST00000481646.1_Missense_Mutation_p.D329N|ARMC8_ENST00000393058.3_Missense_Mutation_p.D333N|ARMC8_ENST00000538260.1_Missense_Mutation_p.D312N	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	343										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGCCATCACTGATATTAAAAG	0.373																																						ENST00000469044.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.(1027-1029)Gat>Aat		armadillo repeat containing 8							117.0	105.0	109.0					3																	137960814		2203	4300	6503	SO:0001583	missense	25852						binding	g.chr3:137960814G>A		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1027G>A	3.37:g.137960814G>A	ENSP00000419413:p.Asp343Asn		Somatic				ARMC8_ENST00000538260.1_Missense_Mutation_p.D312N|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Missense_Mutation_p.D301N|ARMC8_ENST00000489213.1_Missense_Mutation_p.D301N|ARMC8_ENST00000393058.3_Missense_Mutation_p.D333N|ARMC8_ENST00000358441.2_Missense_Mutation_p.D329N|ARMC8_ENST00000485396.1_Missense_Mutation_p.D270N|ARMC8_ENST00000481646.1_Missense_Mutation_p.D329N|ARMC8_ENST00000471453.1_Missense_Mutation_p.D329N|ARMC8_ENST00000470821.1_Missense_Mutation_p.D343N	p.D343N	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	WXS	Illumina GAIIx	Phase_I	Q8IUR7	ARMC8_HUMAN			11	1298	+			343					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37	c.1027G>A		.	.	.	.	.	.	.	.	.	.	G	20.6	4.017578	0.75161	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000358441;ENST00000489213;ENST00000485396;ENST00000471453;ENST00000470821;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459	T;T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;2.17;1.45;0.23;2.17;2.16;0.22;-0.12	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73760	0.3628	L	0.42245	1.32	0.80722	D	1	D;D;D;B;D;D	0.71674	0.993;0.996;0.993;0.187;0.996;0.998	D;D;D;B;D;D	0.77557	0.956;0.981;0.956;0.039;0.99;0.943	T	0.71856	-0.4466	10	0.46703	T	0.11	-38.0405	17.8686	0.88804	0.0:0.0:1.0:0.0	.	270;312;343;329;343;329	B7Z637;F5GWK4;Q8IUR7;Q8IUR7-2;G5E9V6;Q8IUR7-6	.;.;ARMC8_HUMAN;.;.;.	N	329;343;301;329;301;270;329;343;312;333;237;200	ENSP00000420333:D329N;ENSP00000419413:D343N;ENSP00000417304:D301N;ENSP00000351221:D329N;ENSP00000418412:D301N;ENSP00000417049:D270N;ENSP00000420440:D329N;ENSP00000418405:D343N;ENSP00000441592:D312N;ENSP00000376778:D333N	ENSP00000351221:D329N	D	+	1	0	ARMC8	139443504	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.852000	0.99516	2.817000	0.96982	0.563000	0.77884	GAT		0.373	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		139	174	0	0	0	1	0	139	174				
RALGAPB	57148	broad.mit.edu	37	20	37209983	37209983	+	IGR	SNP	A	A	T	rs535611431		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:37209983A>T	ENST00000262879.6	+	0	8661				ADIG_ENST00000537425.1_Missense_Mutation_p.L25F|ADIG_ENST00000373348.3_Missense_Mutation_p.L30F			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)						activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGCTGTTGTTATTGATCATCT	0.522																																						ENST00000537425.1																			0				endometrium(1)|kidney(1)	2						c.(73-75)ttA>ttT		adipogenin							184.0	186.0	185.0					20																	37209983		1963	4155	6118	SO:0001628	intergenic_variant	149685				brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation	cytoplasm|integral to membrane|nucleus		g.chr20:37209983A>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270		20.37:g.37209983A>T			Somatic				ADIG_ENST00000373348.3_Missense_Mutation_p.L30F	p.L25F	NM_001018082.1	NP_001018092.1	WXS	Illumina GAIIx	Phase_I	Q0VDE8	ADIG_HUMAN			1	146	+		Myeloproliferative disorder(115;0.00878)	30					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.75A>T	CCDS13305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.655|8.655	0.899197|0.899197	0.17686|0.17686	.|.	.|.	ENSG00000182035|ENSG00000182035	ENST00000537425;ENST00000373348|ENST00000416116	.|.	.|.	.|.	5.15|5.15	-2.89|-2.89	0.05665|0.05665	.|.	0.316889|.	0.17464|.	N|.	0.173339|.	T|T	0.21509|0.21509	0.0518|0.0518	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.22746|.	0.074|.	B|.	0.23574|.	0.047|.	T|T	0.31696|0.31696	-0.9934|-0.9934	8|4	0.39692|.	T|.	0.17|.	-0.1377|-0.1377	4.6641|4.6641	0.12657|0.12657	0.4966:0.0:0.3517:0.1517|0.4966:0.0:0.3517:0.1517	.|.	30|.	Q0VDE8|.	ADIG_HUMAN|.	F|F	25;30|12	.|.	ENSP00000362445:L30F|.	L|Y	+|+	3|2	2|0	ADIG|ADIG	36643397|36643397	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.133000|-0.133000	0.10451|0.10451	-0.229000|-0.229000	0.09854|0.09854	-0.177000|-0.177000	0.13119|0.13119	TTA|TAT		0.522	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		4	289	0	0	0	1	0	4	289				
SMC2	10592	broad.mit.edu	37	9	106880627	106880627	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:106880627T>A	ENST00000286398.7	+	15	2255	c.1967T>A	c.(1966-1968)gTg>gAg	p.V656E	SMC2_ENST00000374793.3_Missense_Mutation_p.V656E|SMC2_ENST00000374787.3_Missense_Mutation_p.V656E|SMC2_ENST00000303219.8_Missense_Mutation_p.V656E	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	656	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGAGGTGATGTGTTTGATCCT	0.363																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(1966-1968)gTg>gAg		structural maintenance of chromosomes 2							161.0	142.0	149.0					9																	106880627		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106880627T>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1967T>A	9.37:g.106880627T>A	ENSP00000286398:p.Val656Glu		Somatic				SMC2_ENST00000374793.3_Missense_Mutation_p.V656E|SMC2_ENST00000303219.8_Missense_Mutation_p.V656E|SMC2_ENST00000374787.3_Missense_Mutation_p.V656E	p.V656E	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	WXS	Illumina GAIIx	Phase_I	O95347	SMC2_HUMAN			15	2255	+			656			Flexible hinge.		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.1967T>A	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.850890	0.32699	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	4.98	4.98	0.66077	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.240158	0.40385	N	0.001115	D	0.86863	0.6035	L	0.45137	1.4	0.46376	D	0.999015	B;P	0.44195	0.032;0.828	B;P	0.53360	0.028;0.724	D	0.86464	0.1781	10	0.52906	T	0.07	-10.8326	8.3371	0.32221	0.0:0.0881:0.0:0.9119	.	656;656	O95347;Q2KQ72	SMC2_HUMAN;.	E	656	ENSP00000286398:V656E;ENSP00000363925:V656E;ENSP00000306152:V656E;ENSP00000363919:V656E	ENSP00000286398:V656E	V	+	2	0	SMC2	105920448	0.832000	0.29368	0.977000	0.42913	0.319000	0.28217	3.532000	0.53553	2.100000	0.63781	0.482000	0.46254	GTG		0.363	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			11	97	0	0	0	1	0	11	97				
MARK1	4139	broad.mit.edu	37	1	220752837	220752837	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:220752837A>G	ENST00000366917.4	+	2	459	c.193A>G	c.(193-195)Aca>Gca	p.T65A	MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000485104.1_3'UTR|MARK1_ENST00000366918.4_Missense_Mutation_p.T65A					MAP/microtubule affinity-regulating kinase 1									p.T65A(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTTACAAAAAACAATAGGGAA	0.428																																						ENST00000366918.4																			1	Substitution - Missense(1)	p.T65A(1)	kidney(1)	central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63						c.(193-195)Aca>Gca		MAP/microtubule affinity-regulating kinase 1							96.0	89.0	92.0					1																	220752837		2203	4300	6503	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220752837A>G	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.193A>G	1.37:g.220752837A>G	ENSP00000355884:p.Thr65Ala		Somatic				MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000472121.1_3'UTR|MARK1_ENST00000366917.4_Missense_Mutation_p.T65A	p.T65A			WXS	Illumina GAIIx	Phase_I	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	2	790	+			65			Protein kinase.			Missense_Mutation	SNP	ENST00000366917.4	37	c.193A>G	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	A	31	5.077407	0.94000	.	.	ENSG00000116141	ENST00000366918;ENST00000366917	T;T	0.24908	1.83;1.83	5.76	5.76	0.90799	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	L	0.42008	1.315	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.85130	0.954;0.986;0.997	T	0.38779	-0.9645	10	0.87932	D	0	.	16.0789	0.80985	1.0:0.0:0.0:0.0	.	65;65;65	B4DIB3;Q9P0L2;Q9P0L2-3	.;MARK1_HUMAN;.	A	65	ENSP00000355885:T65A;ENSP00000355884:T65A	ENSP00000355884:T65A	T	+	1	0	MARK1	218819460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.515000	0.81761	2.192000	0.70111	0.460000	0.39030	ACA		0.428	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			45	82	0	0	0	1	0	45	82				
DHX8	1659	broad.mit.edu	37	17	41585811	41585811	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:41585811A>G	ENST00000262415.3	+	16	2497	c.2425A>G	c.(2425-2427)Atc>Gtc	p.I809V	DHX8_ENST00000540306.1_Missense_Mutation_p.I809V	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	809	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.I809V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGAGTTAATTATCCTCCCAGT	0.468																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			1	Substitution - Missense(1)	p.I809V(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(2425-2427)Atc>Gtc		DEAH (Asp-Glu-Ala-His) box polypeptide 8							147.0	139.0	141.0					17																	41585811		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41585811A>G	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.2425A>G	17.37:g.41585811A>G	ENSP00000262415:p.Ile809Val		Somatic				DHX8_ENST00000540306.1_Missense_Mutation_p.I809V	p.I809V	NM_004941.1	NP_004932.1	WXS	Illumina GAIIx	Phase_I	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	16	2497	+		Breast(137;0.00908)	809			Helicase C-terminal.			Missense_Mutation	SNP	ENST00000262415.3	37	c.2425A>G	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.728834	0.69074	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.73575	-0.76;-0.76	5.68	5.68	0.88126	Helicase, C-terminal (3);	0.119433	0.64402	D	0.000011	T	0.71443	0.3340	N	0.16790	0.44	0.58432	D	0.999993	P;P	0.49447	0.924;0.715	P;P	0.53809	0.73;0.735	T	0.75105	-0.3435	10	0.52906	T	0.07	.	15.0989	0.72256	1.0:0.0:0.0:0.0	.	809;809	F5H658;Q14562	.;DHX8_HUMAN	V	809	ENSP00000437886:I809V;ENSP00000262415:I809V	ENSP00000262415:I809V	I	+	1	0	DHX8	38941337	1.000000	0.71417	0.981000	0.43875	0.992000	0.81027	7.422000	0.80217	2.162000	0.67917	0.459000	0.35465	ATC		0.468	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			113	107	0	0	0	1	0	113	107				
MCC	4163	broad.mit.edu	37	5	112458444	112458444	+	Missense_Mutation	SNP	C	C	T	rs557562317		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:112458444C>T	ENST00000302475.4	-	4	957	c.394G>A	c.(394-396)Gac>Aac	p.D132N	MCC_ENST00000408903.3_Missense_Mutation_p.D322N|MCC_ENST00000515367.2_Missense_Mutation_p.D69N|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	132					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGGTCTTGGTCCATGCTTCGA	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		17046	0.001		0.0	False		,,,				2504	0.0					ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(394-396)Gac>Aac		mutated in colorectal cancers							175.0	140.0	152.0					5																	112458444		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112458444C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.394G>A	5.37:g.112458444C>T	ENSP00000305617:p.Asp132Asn		Somatic				MCC_ENST00000515367.2_Missense_Mutation_p.D69N|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.D322N	p.D132N	NM_002387.2	NP_002378.1	WXS	Illumina GAIIx	Phase_I	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	4	957	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	132					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.394G>A	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469768	0.84533	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.79653	-1.29;2.25;1.08	5.76	5.76	0.90799	.	0.054648	0.64402	D	0.000002	T	0.71962	0.3402	N	0.08118	0	0.80722	D	1	P;B;P;P	0.50156	0.734;0.247;0.932;0.598	B;B;P;B	0.46543	0.135;0.086;0.52;0.135	T	0.75572	-0.3271	10	0.42905	T	0.14	-27.2161	19.5723	0.95425	0.0:1.0:0.0:0.0	.	132;94;322;132	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	N	132;69;322	ENSP00000305617:D132N;ENSP00000421615:D69N;ENSP00000386227:D322N	ENSP00000305617:D132N	D	-	1	0	MCC	112486343	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.155000	0.71833	2.724000	0.93272	0.563000	0.77884	GAC		0.522	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		7	153	0	0	0	1	0	7	153				
CLC	1178	broad.mit.edu	37	19	40225125	40225125	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:40225125G>A	ENST00000221804.4	-	3	176	c.101C>T	c.(100-102)cCa>cTa	p.P34L		NM_001828.5	NP_001819.2	Q05315	LEG10_HUMAN	Charcot-Leyden crystal galectin	34	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				multicellular organismal development (GO:0007275)|regulation of activated T cell proliferation (GO:0046006)|regulation of T cell anergy (GO:0002667)|regulation of T cell cytokine production (GO:0002724)|T cell apoptotic process (GO:0070231)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		CTGCAGATATGGTTCATTCCT	0.512																																						ENST00000221804.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12						c.(100-102)cCa>cTa		Charcot-Leyden crystal galectin							105.0	94.0	98.0					19																	40225125		2203	4300	6503	SO:0001583	missense	1178				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40225125G>A	L01664	CCDS33025.1	19q13.1	2013-06-12	2013-06-12		ENSG00000105205	ENSG00000105205		"""Lectins, galactoside-binding"""	2014	protein-coding gene	gene with protein product	"""eosinophil lysophospholipase"", ""lysolecithin acylhydrolase"", ""galectin 10"", ""lectin, galactoside-binding, soluble, 10"""	153310	"""Charcot-Leyden crystal protein"""			1577491, 11834744	Standard	NM_001828		Approved	LGALS10, MGC149659, Gal-10	uc002omh.3	Q05315		ENST00000221804.4:c.101C>T	19.37:g.40225125G>A	ENSP00000221804:p.Pro34Leu		Somatic					p.P34L	NM_001828.5	NP_001819.2	WXS	Illumina GAIIx	Phase_I	Q05315	LPPL_HUMAN	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)	3	176	-	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	34			Galectin.		C5HZ13|C5HZ14|Q0VDE3	Missense_Mutation	SNP	ENST00000221804.4	37	c.101C>T	CCDS33025.1	.	.	.	.	.	.	.	.	.	.	.	10.68	1.418142	0.25552	.	.	ENSG00000105205	ENST00000221804	T	0.17691	2.26	0.744	0.744	0.18353	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.43233	0.1238	M	0.88842	2.985	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12630	-1.0540	8	0.49607	T	0.09	.	.	.	.	.	34	Q05315	LPPL_HUMAN	L	34	ENSP00000221804:P34L	ENSP00000221804:P34L	P	-	2	0	CLC	44916965	0.005000	0.15991	0.005000	0.12908	0.005000	0.04900	1.400000	0.34577	0.658000	0.30925	0.305000	0.20034	CCA		0.512	CLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465225.1	NM_001828		7	645	0	0	0	1	0	7	645				
NLRP12	91662	broad.mit.edu	37	19	54299115	54299115	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:54299115G>A	ENST00000324134.6	-	9	3264	c.3096C>T	c.(3094-3096)ctC>ctT	p.L1032L	NLRP12_ENST00000391775.3_Silent_p.L975L|NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000391773.1_Silent_p.L1033L|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000345770.5_Intron|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000351894.4_Silent_p.L920L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1032					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCCTCACCAGAGGACTCGGA	0.552																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(3094-3096)ctC>ctT		NLR family, pyrin domain containing 12							59.0	49.0	52.0					19																	54299115		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54299115G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.3096C>T	19.37:g.54299115G>A			Somatic				NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Silent_p.L920L|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000391773.1_Silent_p.L1033L|NLRP12_ENST00000345770.5_Intron|NLRP12_ENST00000391775.3_Silent_p.L975L	p.L1032L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	WXS	Illumina GAIIx	Phase_I	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	9	3264	-	Ovarian(34;0.19)		1032					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.3096C>T	CCDS12864.1																																																																																				0.552	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		5	76	0	0	0	1	0	5	76				
ABCC4	10257	broad.mit.edu	37	13	95860093	95860093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr13:95860093C>T	ENST00000376887.4	-	7	986	c.872G>A	c.(871-873)tGg>tAg	p.W291*	snoU13_ENST00000459449.1_RNA|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.W291*|ABCC4_ENST00000431522.1_Nonsense_Mutation_p.W291*|ABCC4_ENST00000536256.1_Nonsense_Mutation_p.W216*	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	291	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TGACTTTTCCCAGGCGTACAT	0.328																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(871-873)tGg>tAg		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						88.0	89.0	88.0					13																	95860093		2203	4300	6503	SO:0001587	stop_gained	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95860093C>T	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.872G>A	13.37:g.95860093C>T	ENSP00000366084:p.Trp291*		Somatic				ABCC4_ENST00000536256.1_Nonsense_Mutation_p.W216*|ABCC4_ENST00000431522.1_Nonsense_Mutation_p.W291*|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.W291*	p.W291*	NM_005845.3	NP_005836.2	WXS	Illumina GAIIx	Phase_I	O15439	MRP4_HUMAN			7	986	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		291			ABC transmembrane type-1 1.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Nonsense_Mutation	SNP	ENST00000376887.4	37	c.872G>A	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	38	7.139551	0.98088	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7173	0.96127	0.0:1.0:0.0:0.0	.	.	.	.	X	291;291;216;291	.	ENSP00000366084:W291X	W	-	2	0	ABCC4	94658094	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	7.262000	0.78410	2.724000	0.93272	0.563000	0.77884	TGG		0.328	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		4	31	0	0	0	1	0	4	31				
DOK6	220164	broad.mit.edu	37	18	67345004	67345004	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr18:67345004C>T	ENST00000382713.5	+	4	514	c.324C>T	c.(322-324)tgC>tgT	p.C108C	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	108	PH.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AGCACCTCTGCATGGAGTGTC	0.537																																						ENST00000382713.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20						c.(322-324)tgC>tgT		docking protein 6							123.0	113.0	117.0					18																	67345004		2203	4300	6503	SO:0001819	synonymous_variant	220164						insulin receptor binding	g.chr18:67345004C>T	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.324C>T	18.37:g.67345004C>T			Somatic				DOK6_ENST00000584435.1_3'UTR	p.C108C	NM_152721.5	NP_689934.2	WXS	Illumina GAIIx	Phase_I	Q6PKX4	DOK6_HUMAN			4	514	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	108			PH.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Silent	SNP	ENST00000382713.5	37	c.324C>T	CCDS32841.1																																																																																				0.537	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		20	187	0	0	0	1	0	20	187				
MYO5A	4644	broad.mit.edu	37	15	52725484	52725484	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:52725484T>A	ENST00000399231.3	-	2	271		c.e2-2		MYO5A_ENST00000358212.6_Splice_Site|MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000399233.2_Splice_Site	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)						actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CCTGGCAAACTAGAAGACAAA	0.318																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.e2-2		myosin VA (heavy chain 12, myoxin)							65.0	59.0	61.0					15																	52725484		1790	4061	5851	SO:0001630	splice_region_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52725484T>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.28-2A>T	15.37:g.52725484T>A			Somatic				MYO5A_ENST00000358212.6_Splice_Site|MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000399233.2_Splice_Site|MYO5A_ENST00000553916.1_Splice_Site		NM_000259.3	NP_000250.3	WXS	Illumina GAIIx	Phase_I	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	2	271	-								A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Splice_Site	SNP	ENST00000399231.3	37		CCDS42037.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.256356	0.80246	.	.	ENSG00000197535	ENST00000399231;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000553916	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.884	0.79226	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO5A	50512776	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	7.698000	0.84413	2.161000	0.67846	0.454000	0.30748	.		0.318	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	Intron	4	147	0	0	0	1	0	4	147				
ALS2	57679	broad.mit.edu	37	2	202626521	202626521	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:202626521C>T	ENST00000264276.6	-	4	568	c.196G>A	c.(196-198)Ggg>Agg	p.G66R	ALS2_ENST00000467448.1_Missense_Mutation_p.G66R|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	66					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GGAAGAGTCCCAAAGCTGTAG	0.388																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(196-198)Ggg>Agg		amyotrophic lateral sclerosis 2 (juvenile)							70.0	65.0	67.0					2																	202626521		1823	4073	5896	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202626521C>T	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.196G>A	2.37:g.202626521C>T	ENSP00000264276:p.Gly66Arg		Somatic				ALS2_ENST00000467448.1_Missense_Mutation_p.G66R|ALS2_ENST00000496244.1_5'UTR	p.G66R	NM_020919.3	NP_065970.2	WXS	Illumina GAIIx	Phase_I	Q96Q42	ALS2_HUMAN			4	568	-			66					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.196G>A	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034720	0.93575	.	.	ENSG00000003393	ENST00000264276;ENST00000467448;ENST00000409632;ENST00000410052	D;D;D;D	0.99245	-5.62;-5.62;-5.62;-5.62	6.07	6.07	0.98685	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.99582	0.9849	M	0.91561	3.22	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98459	1.0595	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	66;66;66;66	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	R	66	ENSP00000264276:G66R;ENSP00000429223:G66R;ENSP00000386384:G66R;ENSP00000386948:G66R	ENSP00000264276:G66R	G	-	1	0	ALS2	202334766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.885000	0.99019	0.655000	0.94253	GGG		0.388	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		5	146	0	0	0	1	0	5	146				
TCEANC2	127428	broad.mit.edu	37	1	54562078	54562078	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:54562078G>A	ENST00000234827.1	+	5	759	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	TCEANC2_ENST00000371331.1_Missense_Mutation_p.E217K|TCEANC2_ENST00000498272.1_3'UTR	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	187	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E187K(1)		kidney(1)|lung(3)|pancreas(1)	5						GCACCGAGCTGAAATCCGGGC	0.572																																						ENST00000234827.1																			1	Substitution - Missense(1)	p.E187K(1)	kidney(1)	kidney(1)|lung(3)|pancreas(1)	5						c.(559-561)Gaa>Aaa		transcription elongation factor A (SII) N-terminal and central domain containing 2							46.0	52.0	50.0					1																	54562078		2203	4300	6503	SO:0001583	missense	127428				transcription, DNA-dependent	nucleus	DNA binding	g.chr1:54562078G>A	AK056674	CCDS587.1	1p32.3	2011-01-25	2011-01-25	2011-01-25	ENSG00000116205	ENSG00000116205			26494	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 83"""	C1orf83		12477932	Standard	NM_153035		Approved	FLJ32112	uc001cwt.1	Q96MN5	OTTHUMG00000008434	ENST00000234827.1:c.559G>A	1.37:g.54562078G>A	ENSP00000234827:p.Glu187Lys		Somatic				TCEANC2_ENST00000498272.1_3'UTR|TCEANC2_ENST00000371331.1_Missense_Mutation_p.E217K	p.E187K	NM_153035.1	NP_694580.1	WXS	Illumina GAIIx	Phase_I	Q96MN5	TEAN2_HUMAN			5	759	+			187			TFIIS central.		Q5T702|Q8N8N2	Missense_Mutation	SNP	ENST00000234827.1	37	c.559G>A	CCDS587.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357502	0.82243	.	.	ENSG00000116205	ENST00000234827;ENST00000371331	T;T	0.45668	0.89;0.89	5.34	4.37	0.52481	Transcription elongation factor S-II, central domain (3);	0.198130	0.52532	D	0.000075	T	0.51601	0.1684	L	0.54323	1.7	0.58432	D	0.999999	P	0.52842	0.956	P	0.55545	0.778	T	0.42682	-0.9437	10	0.28530	T	0.3	-15.5344	15.46	0.75346	0.0:0.1389:0.8611:0.0	.	187	Q96MN5	TEAN2_HUMAN	K	187;217	ENSP00000234827:E187K;ENSP00000360382:E217K	ENSP00000234827:E187K	E	+	1	0	TCEANC2	54334666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.036000	0.70948	2.522000	0.85027	0.563000	0.77884	GAA		0.572	TCEANC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023245.1	NM_153035		22	59	0	0	0	1	0	22	59				
CELSR2	1952	broad.mit.edu	37	1	109794216	109794216	+	Silent	SNP	C	C	T	rs371030910		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:109794216C>T	ENST00000271332.3	+	1	1576	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	505	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCCATCTTCGTCAGCACCC	0.572																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(1513-1515)ttC>ttT		cadherin, EGF LAG seven-pass G-type receptor 2		C		1,4405		0,1,2202	151.0	125.0	134.0		1515	-8.6	0.5	1		134	0,8600		0,0,4300	no	coding-synonymous	CELSR2	NM_001408.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		505/2924	109794216	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109794216C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1515C>T	1.37:g.109794216C>T			Somatic					p.F505F	NM_001408.2	NP_001399.1	WXS	Illumina GAIIx	Phase_I	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	1576	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	505			Cadherin 3.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.1515C>T	CCDS796.1																																																																																				0.572	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		4	115	0	0	0	1	0	4	115				
PITRM1	10531	broad.mit.edu	37	10	3197825	3197825	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:3197825C>T	ENST00000224949.4	-	14	1613	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	PITRM1_ENST00000380989.2_Missense_Mutation_p.E527K|PITRM1_ENST00000380994.1_Missense_Mutation_p.E85K|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.E495K			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	527					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.E527K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GACAGAGCCTCGACCTTCTGC	0.557																																						ENST00000380989.2																			1	Substitution - Missense(1)	p.E527K(1)	kidney(1)	breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(1579-1581)Gag>Aag		pitrilysin metallopeptidase 1							126.0	131.0	129.0					10																	3197825		2049	4204	6253	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3197825C>T	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1579G>A	10.37:g.3197825C>T	ENSP00000224949:p.Glu527Lys		Somatic				PITRM1_ENST00000380994.1_Missense_Mutation_p.E85K|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000224949.4_Missense_Mutation_p.E527K|PITRM1_ENST00000451104.2_Missense_Mutation_p.E495K|PITRM1-AS1_ENST00000601046.1_RNA	p.E527K	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	WXS	Illumina GAIIx	Phase_I	E7ES23	E7ES23_HUMAN			14	1617	-			495					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.1579G>A	CCDS59208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.264|0.264	-0.997331|-0.997331	0.02145|0.02145	.|.	.|.	ENSG00000107959|ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104|ENST00000430362	T;T;T;T|.	0.20881|.	2.04;2.04;2.04;2.04|.	5.37|5.37	-5.36|-5.36	0.02689|0.02689	Peptidase M16C associated (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);|.	1.189430|.	0.05448|.	N|.	0.548869|.	T|T	0.14787|0.14787	0.0357|0.0357	N|N	0.02802|0.02802	-0.49|-0.49	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.06786|.	0.001;0.001;0.0;0.0;0.0;0.001|.	B;B;B;B;B;B|.	0.06405|.	0.001;0.002;0.001;0.002;0.002;0.002|.	T|T	0.30650|0.30650	-0.9971|-0.9971	10|5	0.07990|.	T|.	0.79|.	.|.	14.9198|14.9198	0.70829|0.70829	0.0:0.5308:0.0:0.4692|0.0:0.5308:0.0:0.4692	.|.	520;495;527;527;527;520|.	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07|.	.;.;.;.;PREP_HUMAN;.|.	K|Q	527;520;527;85;495|163	ENSP00000224949:E527K;ENSP00000370377:E527K;ENSP00000370382:E85K;ENSP00000401201:E495K|.	ENSP00000224949:E527K|.	E|R	-|-	1|2	0|0	PITRM1|PITRM1	3187825|3187825	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.503000|-1.503000	0.02277|0.02277	-0.749000|-0.749000	0.04747|0.04747	-0.214000|-0.214000	0.12660|0.12660	GAG|CGA		0.557	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			89	52	0	0	0	1	0	89	52				
ILVBL	10994	broad.mit.edu	37	19	15230241	15230241	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:15230241G>A	ENST00000263383.3	-	8	1041	c.902C>T	c.(901-903)gCc>gTc	p.A301V	ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Missense_Mutation_p.A194V	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	301						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AAGCTTGTCGGCAGACGTTGG	0.662																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(901-903)gCc>gTc		ilvB (bacterial acetolactate synthase)-like							53.0	49.0	50.0					19																	15230241		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15230241G>A	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.902C>T	19.37:g.15230241G>A	ENSP00000263383:p.Ala301Val		Somatic				ILVBL_ENST00000534378.1_Missense_Mutation_p.A194V|ILVBL_ENST00000531635.1_5'UTR	p.A301V	NM_006844.3	NP_006835.2	WXS	Illumina GAIIx	Phase_I	A1L0T0	ILVBL_HUMAN			8	1041	-			301					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.902C>T	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	G	7.231	0.599382	0.13939	.	.	ENSG00000105135	ENST00000263383	T	0.42513	0.97	5.28	5.28	0.74379	Thiamine pyrophosphate enzyme, central domain (1);	0.494448	0.22853	N	0.054840	T	0.27798	0.0684	N	0.20445	0.575	0.09310	N	0.999994	B	0.09022	0.002	B	0.20955	0.032	T	0.10613	-1.0622	10	0.30854	T	0.27	-4.9483	9.9338	0.41539	0.0928:0.0:0.9072:0.0	.	301	A1L0T0	ILVBL_HUMAN	V	301	ENSP00000263383:A301V	ENSP00000263383:A301V	A	-	2	0	ILVBL	15091241	0.428000	0.25522	0.006000	0.13384	0.001000	0.01503	2.257000	0.43240	2.471000	0.83476	0.655000	0.94253	GCC		0.662	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		3	47	0	0	0	1	0	3	47				
SECISBP2	79048	broad.mit.edu	37	9	91965577	91965577	+	Silent	SNP	G	G	A	rs41288139	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:91965577G>A	ENST00000375807.3	+	14	1994	c.1923G>A	c.(1921-1923)gtG>gtA	p.V641V	SECISBP2_ENST00000339901.4_Silent_p.V568V|SECISBP2_ENST00000534113.2_Silent_p.V573V	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	641					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GTAAAGAAGTGGATGCTTGTG	0.483																																						ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(1921-1923)gtG>gtA		SECIS binding protein 2		G		1,4405	2.1+/-5.4	0,1,2202	266.0	227.0	240.0		1923	-9.7	0.1	9	dbSNP_127	240	8,8592	7.1+/-27.0	0,8,4292	no	coding-synonymous	SECISBP2	NM_024077.3		0,9,6494	AA,AG,GG		0.093,0.0227,0.0692		641/855	91965577	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91965577G>A	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1923G>A	9.37:g.91965577G>A			Somatic				SECISBP2_ENST00000534113.2_Silent_p.V573V|SECISBP2_ENST00000339901.4_Silent_p.V568V	p.V641V	NM_024077.3	NP_076982.3	WXS	Illumina GAIIx	Phase_I	Q96T21	SEBP2_HUMAN			14	1994	+			641					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Silent	SNP	ENST00000375807.3	37	c.1923G>A	CCDS6683.1																																																																																				0.483	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		6	498	0	0	0	1	0	6	498				
RARA	5914	broad.mit.edu	37	17	38506145	38506145	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:38506145A>G	ENST00000254066.5	+	4	892	c.437A>G	c.(436-438)cAg>cGg	p.Q146R	RARA_ENST00000394089.2_Missense_Mutation_p.Q146R|RARA_ENST00000394081.3_Missense_Mutation_p.Q141R|RARA_ENST00000425707.3_Intron|RARA_ENST00000394086.3_Missense_Mutation_p.Q162R	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	146					apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)	p.Q146R(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TGCCGACTGCAGAAGTGCTTT	0.577			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																	ENST00000254066.5				Dom	yes		17	17q12	5914	T	"""retinoic acid receptor, alpha"""			L	"""PML, ZNF145, TIF1, NUMA1, NPM1"""		APL		1	Substitution - Missense(1)	p.Q146R(1)	kidney(1)	breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16						c.(436-438)cAg>cGg		retinoic acid receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)						111.0	90.0	97.0					17																	38506145		2203	4300	6503	SO:0001583	missense	5914				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr17:38506145A>G	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.437A>G	17.37:g.38506145A>G	ENSP00000254066:p.Gln146Arg		Somatic				RARA_ENST00000394086.3_Missense_Mutation_p.Q162R|RARA_ENST00000394089.2_Missense_Mutation_p.Q146R|RARA_ENST00000394081.3_Missense_Mutation_p.Q141R|RARA_ENST00000425707.3_Intron	p.Q146R	NM_000964.3	NP_000955.1	WXS	Illumina GAIIx	Phase_I	P10276	RARA_HUMAN	STAD - Stomach adenocarcinoma(5;0.00143)		4	892	+		Breast(137;0.00328)	146					B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	c.437A>G	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.700325	0.48307	.	.	ENSG00000131759	ENST00000254066;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000319149	D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2	5.28	4.17	0.49024	Nuclear hormone receptor, ligand-binding (2);Zinc finger, nuclear hormone receptor-type (4);	0.120697	0.64402	D	0.000020	D	0.94637	0.8271	L	0.53729	1.69	0.58432	D	0.999998	B;B	0.18461	0.028;0.025	B;B	0.30646	0.118;0.05	D	0.91468	0.5194	10	0.62326	D	0.03	.	11.2068	0.48773	0.8457:0.1543:0.0:0.0	.	141;146	F1D8N9;P10276	.;RARA_HUMAN	R	146;146;162;141;141	ENSP00000254066:Q146R;ENSP00000377649:Q146R;ENSP00000377648:Q162R;ENSP00000377643:Q141R	ENSP00000254066:Q146R	Q	+	2	0	RARA	35759671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.332000	0.96446	0.810000	0.34279	0.533000	0.62120	CAG		0.577	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			55	9	0	0	0	1	0	55	9				
IGSF5	150084	broad.mit.edu	37	21	41142841	41142841	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr21:41142841A>T	ENST00000380588.4	+	4	521		c.e4-1		IGSF5_ENST00000479378.1_Splice_Site	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5						single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TTTCTTCTTTAGTTATGGGAG	0.388																																						ENST00000380588.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23						c.e4-1		immunoglobulin superfamily, member 5							47.0	45.0	46.0					21																	41142841		2203	4300	6503	SO:0001630	splice_region_variant	150084					integral to membrane|tight junction		g.chr21:41142841A>T		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.419-1A>T	21.37:g.41142841A>T			Somatic				IGSF5_ENST00000479378.1_Splice_Site		NM_001080444.1	NP_001073913.1	WXS	Illumina GAIIx	Phase_I	Q9NSI5	IGSF5_HUMAN			4	521	+		Prostate(19;5.35e-06)							Splice_Site	SNP	ENST00000380588.4	37		CCDS33562.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548062	0.65311	.	.	ENSG00000183067	ENST00000380588	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4568	0.61204	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IGSF5	40064711	0.998000	0.40836	0.918000	0.36340	0.882000	0.50991	5.040000	0.64191	2.251000	0.74343	0.528000	0.53228	.		0.388	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1		Intron	6	196	0	0	0	1	0	6	196				
ACOT11	26027	broad.mit.edu	37	1	55074670	55074670	+	Intron	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:55074670A>G	ENST00000371316.3	+	15	1711				ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.Y557C	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11						fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GTTCTCAACTATGTGACCACC	0.587																																					Ovarian(148;1440 1861 22015 32453 51933)	ENST00000343744.2																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1669-1671)tAt>tGt		acyl-CoA thioesterase 11							166.0	162.0	163.0					1																	55074670		2203	4300	6503	SO:0001627	intron_variant	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55074670A>G	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.1629+929A>G	1.37:g.55074670A>G			Somatic				ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000371316.3_Intron	p.Y557C	NM_147161.3	NP_671517.1	WXS	Illumina GAIIx	Phase_I	Q8WXI4	ACO11_HUMAN			16	1752	+			0			START.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.1670A>G	CCDS592.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233978	0.58886	.	.	ENSG00000162390	ENST00000343744	T	0.28255	1.62	5.02	5.02	0.67125	.	.	.	.	.	T	0.56307	0.1976	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	T	0.62718	-0.6795	8	0.87932	D	0	.	15.0856	0.72148	1.0:0.0:0.0:0.0	.	557	Q8WXI4-2	.	C	557	ENSP00000340260:Y557C	ENSP00000340260:Y557C	Y	+	2	0	ACOT11	54847258	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	6.783000	0.75078	2.026000	0.59711	0.459000	0.35465	TAT		0.587	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		4	412	0	0	0	1	0	4	412				
GOLGB1	2804	broad.mit.edu	37	3	121415208	121415208	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:121415208C>T	ENST00000340645.5	-	13	4272	c.4147G>A	c.(4147-4149)Ggc>Agc	p.G1383S	GOLGB1_ENST00000393667.3_Missense_Mutation_p.G1388S	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1383					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGTTCTAGGCCAGCAATTTGT	0.423																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(4162-4164)Ggc>Agc		golgin B1							158.0	163.0	161.0					3																	121415208		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121415208C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4147G>A	3.37:g.121415208C>T	ENSP00000341848:p.Gly1383Ser		Somatic				GOLGB1_ENST00000340645.5_Missense_Mutation_p.G1383S	p.G1388S	NM_001256486.1	NP_001243415.1	WXS	Illumina GAIIx	Phase_I	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	4272	-			1383					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.4162G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304913	0.23736	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.21543	2.64;2.64;2.0	6.17	-2.33	0.06724	.	0.570134	0.17189	N	0.183568	T	0.11110	0.0271	L	0.46157	1.445	0.09310	N	1	B;B;B;B;P	0.36837	0.041;0.041;0.023;0.023;0.571	B;B;B;B;B	0.30855	0.007;0.007;0.007;0.007;0.121	T	0.37663	-0.9696	10	0.10111	T	0.7	.	6.2854	0.21031	0.0:0.3864:0.2221:0.3915	.	1308;1347;1388;1388;1383	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	S	1383;1388;1347	ENSP00000341848:G1383S;ENSP00000377275:G1388S;ENSP00000418231:G1347S	ENSP00000341848:G1383S	G	-	1	0	GOLGB1	122897898	0.083000	0.21467	0.750000	0.31169	0.523000	0.34469	0.802000	0.27069	-0.174000	0.10743	-0.150000	0.13652	GGC		0.423	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		4	238	0	0	0	1	0	4	238				
NLRP2	55655	broad.mit.edu	37	19	55505722	55505722	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:55505722C>G	ENST00000543010.1	+	11	2937	c.2794C>G	c.(2794-2796)Ctg>Gtg	p.L932V	NLRP2_ENST00000538819.1_Missense_Mutation_p.L908V|NLRP2_ENST00000339757.7_Missense_Mutation_p.L910V|NLRP2_ENST00000427260.2_Missense_Mutation_p.L909V|NLRP2_ENST00000391721.4_Missense_Mutation_p.L908V|NLRP2_ENST00000448584.2_Missense_Mutation_p.L932V|NLRP2_ENST00000263437.6_Missense_Mutation_p.L929V|NLRP2_ENST00000537859.1_Missense_Mutation_p.L910V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	932					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTGTTTGGATCTGGGGCTGAA	0.448																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(2794-2796)Ctg>Gtg		NLR family, pyrin domain containing 2							197.0	169.0	179.0					19																	55505722		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55505722C>G	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2794C>G	19.37:g.55505722C>G	ENSP00000445135:p.Leu932Val		Somatic				NLRP2_ENST00000427260.2_Missense_Mutation_p.L909V|NLRP2_ENST00000339757.7_Missense_Mutation_p.L910V|NLRP2_ENST00000263437.6_Missense_Mutation_p.L929V|NLRP2_ENST00000391721.4_Missense_Mutation_p.L908V|NLRP2_ENST00000448584.2_Missense_Mutation_p.L932V|NLRP2_ENST00000537859.1_Missense_Mutation_p.L910V|NLRP2_ENST00000538819.1_Missense_Mutation_p.L908V	p.L932V	NM_001174081.1	NP_001167552.1	WXS	Illumina GAIIx	Phase_I	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	11	2937	+			932					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.2794C>G	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848042	0.32699	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	2.48	1.39	0.22231	.	.	.	.	.	T	0.79070	0.4384	M	0.79614	2.46	0.09310	N	0.999998	D;D;D;D;D	0.69078	0.995;0.997;0.99;0.997;0.974	P;D;P;D;P	0.63877	0.831;0.919;0.831;0.919;0.638	T	0.64639	-0.6360	9	0.44086	T	0.13	.	6.3915	0.21589	0.2924:0.7076:0.0:0.0	.	909;910;929;908;932	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	V	932;908;910;932;910;909;908;929	ENSP00000445135:L932V;ENSP00000375601:L908V;ENSP00000344074:L910V;ENSP00000409370:L932V;ENSP00000440601:L910V;ENSP00000402474:L909V;ENSP00000441133:L908V;ENSP00000263437:L929V	ENSP00000263437:L929V	L	+	1	2	NLRP2	60197534	0.951000	0.32395	0.232000	0.24009	0.032000	0.12392	1.227000	0.32576	0.568000	0.29311	0.561000	0.74099	CTG		0.448	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		4	374	0	0	0	1	0	4	374				
POLQ	10721	broad.mit.edu	37	3	121187276	121187276	+	Nonsense_Mutation	SNP	G	G	A	rs369712134		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:121187276G>A	ENST00000264233.5	-	23	6849	c.6721C>T	c.(6721-6723)Cga>Tga	p.R2241*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2241					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.R2376*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGGTTATTCGTCCTAAAATC	0.333								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			1	Substitution - Nonsense(1)	p.R2376*(1)	kidney(1)	NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(6721-6723)Cga>Tga	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta		G	stop/ARG	0,4406		0,0,2203	105.0	114.0	111.0		6721	4.3	1.0	3		111	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	POLQ	NM_199420.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2241/2591	121187276	1,13005	2203	4300	6503	SO:0001587	stop_gained	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121187276G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6721C>T	3.37:g.121187276G>A	ENSP00000264233:p.Arg2241*		Somatic					p.R2241*	NM_199420.3	NP_955452.3	WXS	Illumina GAIIx	Phase_I	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	23	6849	-			2241					O95160|Q6VMB5	Nonsense_Mutation	SNP	ENST00000264233.5	37	c.6721C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	48	13.890624	0.99768	0.0	1.16E-4	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	5.25	4.35	0.52113	.	0.116303	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4323	0.75112	0.0:0.0:0.86:0.14	.	.	.	.	X	1864;2241;2377	.	ENSP00000264233:R2241X	R	-	1	2	POLQ	122669966	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	3.716000	0.54904	1.542000	0.49330	0.655000	0.94253	CGA		0.333	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		80	27	0	0	0	1	0	80	27				
INTS2	57508	broad.mit.edu	37	17	60004006	60004006	+	Silent	SNP	T	T	G	rs371963660		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:60004006T>G	ENST00000444766.3	-	2	99	c.24A>C	c.(22-24)atA>atC	p.I8I	INTS2_ENST00000251334.6_5'UTR	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	8					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)		p.I8I(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						ATTCAGTCATTATTACTGTTT	0.358																																						ENST00000444766.3																			1	Substitution - coding silent(1)	p.I8I(1)	kidney(1)	NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(22-24)atA>atC		integrator complex subunit 2							51.0	48.0	49.0					17																	60004006		1873	4107	5980	SO:0001819	synonymous_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:60004006T>G	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.24A>C	17.37:g.60004006T>G			Somatic				INTS2_ENST00000251334.6_5'UTR	p.I8I	NM_020748.2	NP_065799.1	WXS	Illumina GAIIx	Phase_I	Q9H0H0	INT2_HUMAN			2	99	-			8					Q9ULD3	Silent	SNP	ENST00000444766.3	37	c.24A>C	CCDS45750.1																																																																																				0.358	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		37	6	0	0	0	1	0	37	6				
CCHCR1	54535	broad.mit.edu	37	6	31111166	31111166	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:31111166C>A	ENST00000376266.5	-	16	2047	c.1925G>T	c.(1924-1926)cGc>cTc	p.R642L	CCHCR1_ENST00000396268.3_Missense_Mutation_p.R731L|CCHCR1_ENST00000451521.2_Missense_Mutation_p.R695L|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R589L	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	642					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R731L(1)|p.R642L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GGCGGCTCTGCGCTGAATCTG	0.647																																						ENST00000396268.3																			2	Substitution - Missense(2)	p.R731L(1)|p.R642L(1)	kidney(2)	breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(2191-2193)cGc>cTc		coiled-coil alpha-helical rod protein 1							45.0	52.0	49.0					6																	31111166		1510	2708	4218	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31111166C>A	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1925G>T	6.37:g.31111166C>A	ENSP00000365442:p.Arg642Leu		Somatic				CCHCR1_ENST00000376266.5_Missense_Mutation_p.R642L|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R589L|CCHCR1_ENST00000451521.2_Missense_Mutation_p.R695L	p.R731L	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	WXS	Illumina GAIIx	Phase_I	Q8TD31	CCHCR_HUMAN			16	2380	-			642					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.2192G>T	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545784	0.45280	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.04156	3.69;3.69;3.69;3.69	5.18	1.45	0.22620	.	0.313587	0.30076	N	0.010478	T	0.02807	0.0084	M	0.66939	2.045	0.28703	N	0.903943	P;P;P;P	0.48503	0.837;0.837;0.911;0.804	P;B;P;B	0.46172	0.506;0.402;0.506;0.203	T	0.38993	-0.9635	10	0.38643	T	0.18	-1.344	6.9753	0.24672	0.0:0.6304:0.0:0.3696	.	642;642;695;731	B4DIA2;Q8TD31;E9PE84;Q8TD31-2	.;CCHCR_HUMAN;.;.	L	731;642;589;642;695	ENSP00000379566:R731L;ENSP00000365442:R642L;ENSP00000379561:R589L;ENSP00000401039:R695L	ENSP00000365442:R642L	R	-	2	0	CCHCR1	31219145	1.000000	0.71417	0.840000	0.33206	0.570000	0.35934	0.461000	0.21940	0.081000	0.16988	-0.275000	0.10095	CGC		0.647	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		26	21	1	0	3.57733e-08	1	3.71081e-08	26	21				
SYNRG	11276	broad.mit.edu	37	17	35879057	35879057	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:35879057G>T	ENST00000339208.6	-	22	4071	c.3931C>A	c.(3931-3933)Cct>Act	p.P1311T	SYNRG_ENST00000394378.2_Missense_Mutation_p.P1256T|SYNRG_ENST00000585472.1_Missense_Mutation_p.P1232T|SYNRG_ENST00000346661.4_Missense_Mutation_p.P1299T|SYNRG_ENST00000591288.1_Missense_Mutation_p.P1105T|SYNRG_ENST00000502449.2_Missense_Mutation_p.P1176T|SYNRG_ENST00000345615.4_Missense_Mutation_p.P1221T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1311					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGCAGGTCAGGCAGGACGAGG	0.522																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(3931-3933)Cct>Act		synergin, gamma							176.0	169.0	171.0					17																	35879057		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35879057G>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3931C>A	17.37:g.35879057G>T	ENSP00000343610:p.Pro1311Thr		Somatic				SYNRG_ENST00000502449.2_Missense_Mutation_p.P1176T|SYNRG_ENST00000585472.1_Missense_Mutation_p.P1232T|SYNRG_ENST00000345615.4_Missense_Mutation_p.P1221T|SYNRG_ENST00000394378.2_Missense_Mutation_p.P1256T|SYNRG_ENST00000346661.4_Missense_Mutation_p.P1299T|SYNRG_ENST00000591288.1_Missense_Mutation_p.P1105T	p.P1311T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	WXS	Illumina GAIIx	Phase_I	Q9UMZ2	SYNRG_HUMAN			22	4071	-			1311					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.3931C>A	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004670	0.93287	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T	0.56941	1.19;0.43	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.71929	0.3398	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.999;0.999;0.997;0.998;0.998	T	0.74103	-0.3773	10	0.87932	D	0	-13.2312	19.2675	0.93996	0.0:0.0:1.0:0.0	.	1105;1233;1256;1221;1299;1311	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	T	1311;1105;1299;1221;1256	ENSP00000343610:P1105T;ENSP00000377903:P1256T	ENSP00000343610:P1105T	P	-	1	0	SYNRG	32953170	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.869000	0.99810	2.573000	0.86826	0.655000	0.94253	CCT		0.522	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		14	327	1	0	1.05317e-09	1	1.09793e-09	14	327				
LCN1	3933	broad.mit.edu	37	9	138413417	138413417	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:138413417A>G	ENST00000263598.2	+	1	134	c.74A>G	c.(73-75)gAc>gGc	p.D25G	LCN1_ENST00000371781.3_Missense_Mutation_p.D25G	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	25					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.D25G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		CTGGCCTCAGACGAGGAGATT	0.662																																						ENST00000263598.2																			1	Substitution - Missense(1)	p.D25G(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13						c.(73-75)gAc>gGc		lipocalin 1							20.0	20.0	20.0					9																	138413417		2202	4296	6498	SO:0001583	missense	3933				proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	g.chr9:138413417A>G		CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"""Lipocalins"""	6525	protein-coding gene	gene with protein product	"""Von Ebner gland protein"", ""tear lipocalin"", ""lipocalin 1-like 2"", ""tear prealbumin"""	151675	"""lipocalin 1 (protein migrating faster than albumin, tear prealbumin)"", ""lipocalin 1 (tear prealbumin)"""			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.74A>G	9.37:g.138413417A>G	ENSP00000263598:p.Asp25Gly		Somatic				LCN1_ENST00000371781.3_Missense_Mutation_p.D25G	p.D25G	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	WXS	Illumina GAIIx	Phase_I	P31025	LCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)	1	134	+		Myeloproliferative disorder(178;0.0511)	25					Q5T8A1	Missense_Mutation	SNP	ENST00000263598.2	37	c.74A>G	CCDS6991.1	.	.	.	.	.	.	.	.	.	.	A	0.619	-0.822076	0.02755	.	.	ENSG00000160349	ENST00000263598;ENST00000371781	T;T	0.13089	2.62;2.62	2.78	-2.07	0.07276	Calycin-like (1);Calycin (1);	2.201110	0.01857	N	0.036341	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.29912	-0.9996	10	0.40728	T	0.16	.	3.2679	0.06871	0.4627:0.218:0.3193:0.0	.	25	P31025	LCN1_HUMAN	G	25	ENSP00000263598:D25G;ENSP00000360846:D25G	ENSP00000263598:D25G	D	+	2	0	LCN1	137553238	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.298000	0.02756	-0.338000	0.08413	-0.937000	0.02696	GAC		0.662	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297		17	9	0	0	0	1	0	17	9				
ESYT1	23344	broad.mit.edu	37	12	56527596	56527596	+	Missense_Mutation	SNP	G	G	A	rs112882931	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:56527596G>A	ENST00000394048.5	+	13	1676	c.1412G>A	c.(1411-1413)cGa>cAa	p.R471Q	ESYT1_ENST00000541590.1_Missense_Mutation_p.R471Q|ESYT1_ENST00000267113.4_Missense_Mutation_p.R471Q	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	471	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GTCTCCTCTCGACCAGATCCC	0.552													G|||	10	0.00199681	0.0076	0.0	5008	,	,		17857	0.0		0.0	False		,,,				2504	0.0					ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(1411-1413)cGa>cAa		extended synaptotagmin-like protein 1		G	GLN/ARG,GLN/ARG	8,4398	14.3+/-33.2	0,8,2195	111.0	106.0	108.0		1412,1412	2.6	1.0	12	dbSNP_132	108	0,8600		0,0,4300	yes	missense,missense	ESYT1	NM_001184796.1,NM_015292.2	43,43	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	probably-damaging,probably-damaging	471/1115,471/1105	56527596	8,12998	2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56527596G>A	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1412G>A	12.37:g.56527596G>A	ENSP00000377612:p.Arg471Gln		Somatic				ESYT1_ENST00000541590.1_Missense_Mutation_p.R471Q|ESYT1_ENST00000267113.4_Missense_Mutation_p.R471Q	p.R471Q	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	WXS	Illumina GAIIx	Phase_I	Q9BSJ8	ESYT1_HUMAN			13	1676	+			471			C2 2.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.1412G>A	CCDS8904.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.18	2.161648	0.38119	0.001816	0.0	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.55413	0.52;0.54;0.54	5.39	2.57	0.30868	.	0.844932	0.10631	N	0.652182	T	0.37705	0.1013	L	0.34521	1.04	0.29055	N	0.884231	B;B	0.12013	0.005;0.004	B;B	0.12156	0.007;0.002	T	0.32824	-0.9892	10	0.13853	T	0.58	-1.5011	7.9868	0.30216	0.3274:0.0:0.6726:0.0	.	471;471	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	Q	471;425;471;471	ENSP00000377612:R471Q;ENSP00000267113:R471Q;ENSP00000445952:R471Q	ENSP00000267113:R471Q	R	+	2	0	ESYT1	54813863	0.863000	0.29885	0.959000	0.39883	0.961000	0.63080	1.332000	0.33805	0.352000	0.24053	0.563000	0.77884	CGA		0.552	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		5	200	0	0	0	1	0	5	200				
NFIL3	4783	broad.mit.edu	37	9	94172340	94172340	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:94172340T>C	ENST00000297689.3	-	2	1071	c.677A>G	c.(676-678)gAg>gGg	p.E226G		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	226					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TGTGTAGCTCTCTAATTCCAT	0.488																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(676-678)gAg>gGg		nuclear factor, interleukin 3 regulated							114.0	111.0	112.0					9																	94172340		2203	4300	6503	SO:0001583	missense	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172340T>C	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.677A>G	9.37:g.94172340T>C	ENSP00000297689:p.Glu226Gly		Somatic					p.E226G	NM_005384.2	NP_005375.2	WXS	Illumina GAIIx	Phase_I	Q16649	NFIL3_HUMAN			2	1071	-			226					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.677A>G	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	T	3.054	-0.194702	0.06259	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.5	4.5	0.54988	Vertebrate interleukin-3 regulated transcription factor (1);	0.075936	0.53938	D	0.000056	T	0.55033	0.1895	L	0.48642	1.525	0.47123	D	0.999323	B	0.09022	0.002	B	0.14023	0.01	T	0.52668	-0.8545	9	0.33940	T	0.23	-38.8255	13.9702	0.64235	0.0:0.0:0.0:1.0	.	226	Q16649	NFIL3_HUMAN	G	226	.	ENSP00000297689:E226G	E	-	2	0	NFIL3	93212161	1.000000	0.71417	0.115000	0.21578	0.045000	0.14185	4.324000	0.59228	1.902000	0.55061	0.459000	0.35465	GAG		0.488	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		7	502	0	0	0	1	0	7	502				
OR4A47	403253	broad.mit.edu	37	11	48511107	48511107	+	Missense_Mutation	SNP	A	A	T	rs200616857		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:48511107A>T	ENST00000446524.1	+	1	839	c.763A>T	c.(763-765)Atg>Ttg	p.M255L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTGTATTTTTATGTATGCTAG	0.428																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(763-765)Atg>Ttg		olfactory receptor, family 4, subfamily A, member 47							213.0	206.0	208.0					11																	48511107		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511107A>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.763A>T	11.37:g.48511107A>T	ENSP00000412752:p.Met255Leu		Somatic					p.M255L	NM_001005512.2	NP_001005512.2	WXS	Illumina GAIIx	Phase_I	Q6IF82	O4A47_HUMAN			1	839	+			255						Missense_Mutation	SNP	ENST00000446524.1	37	c.763A>T	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	2.307	-0.358736	0.05138	.	.	ENSG00000237388	ENST00000446524	T	0.00115	8.71	4.59	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.173909	0.40728	N	0.001040	T	0.00109	0.0003	N	0.16790	0.44	0.09310	N	1	B	0.19331	0.035	B	0.20955	0.032	T	0.04216	-1.0968	10	0.17369	T	0.5	.	8.5275	0.33313	0.9019:0.0:0.0981:0.0	.	255	Q6IF82	O4A47_HUMAN	L	255	ENSP00000412752:M255L	ENSP00000412752:M255L	M	+	1	0	OR4A47	48467683	0.000000	0.05858	0.998000	0.56505	0.282000	0.26991	0.172000	0.16704	1.692000	0.51112	0.172000	0.16884	ATG		0.428	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		11	1082	0	0	0	1	0	11	1082				
ATXN7L2	127002	broad.mit.edu	37	1	110030243	110030243	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:110030243G>A	ENST00000369870.3	+	5	532	c.517G>A	c.(517-519)Ggg>Agg	p.G173R		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	173										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CAGCCAGCCAGGGGGCCTCAC	0.577																																						ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(517-519)Ggg>Agg		ataxin 7-like 2							72.0	78.0	76.0					1																	110030243		2203	4300	6503	SO:0001583	missense	127002							g.chr1:110030243G>A	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.517G>A	1.37:g.110030243G>A	ENSP00000358886:p.Gly173Arg		Somatic					p.G173R	NM_153340.4	NP_699171.3	WXS	Illumina GAIIx	Phase_I	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	5	532	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	173						Missense_Mutation	SNP	ENST00000369870.3	37	c.517G>A	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430365	0.43122	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.30981	1.51	5.46	4.54	0.55810	.	0.211286	0.33572	N	0.004762	T	0.08179	0.0204	N	0.14661	0.345	0.09310	N	0.999991	B	0.22909	0.077	B	0.34180	0.177	T	0.17715	-1.0360	10	0.25106	T	0.35	-4.1469	7.4977	0.27498	0.0865:0.0:0.7503:0.1632	.	173	Q5T6C5	AT7L2_HUMAN	R	173	ENSP00000358886:G173R	ENSP00000358886:G173R	G	+	1	0	ATXN7L2	109831766	0.001000	0.12720	0.159000	0.22649	0.863000	0.49368	0.586000	0.23894	2.552000	0.86080	0.655000	0.94253	GGG		0.577	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		4	215	0	0	0	1	0	4	215				
ANXA4	307	broad.mit.edu	37	2	70045736	70045736	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:70045736G>A	ENST00000394295.4	+	10	882	c.634G>A	c.(634-636)Gat>Aat	p.D212N	ANXA4_ENST00000536030.1_Missense_Mutation_p.D128N|ANXA4_ENST00000409920.1_Missense_Mutation_p.D190N	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	210					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)	p.D212N(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						TGCAGTGTTTGATGAATACAA	0.338																																						ENST00000394295.4																			1	Substitution - Missense(1)	p.D212N(1)	kidney(1)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(634-636)Gat>Aat		annexin A4							100.0	99.0	100.0					2																	70045736		2203	4300	6503	SO:0001583	missense	307				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr2:70045736G>A	M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"""Annexins"""	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.634G>A	2.37:g.70045736G>A	ENSP00000377833:p.Asp212Asn		Somatic				ANXA4_ENST00000536030.1_Missense_Mutation_p.D128N|ANXA4_ENST00000409920.1_Missense_Mutation_p.D190N	p.D212N	NM_001153.3	NP_001144.1	WXS	Illumina GAIIx	Phase_I	P09525	ANXA4_HUMAN			10	882	+			210					B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP	ENST00000394295.4	37	c.634G>A	CCDS1894.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077017	0.76415	.	.	ENSG00000196975	ENST00000409920;ENST00000394295;ENST00000536030	T;T;T	0.03242	4.0;4.0;4.0	5.75	5.75	0.90469	Annexin repeat, conserved site (1);	0.242098	0.47852	D	0.000201	T	0.07369	0.0186	L	0.39085	1.19	0.58432	D	0.999997	P;B;P	0.39576	0.679;0.016;0.679	P;B;P	0.46940	0.532;0.034;0.532	T	0.47886	-0.9082	9	.	.	.	.	17.4171	0.87504	0.0:0.0:1.0:0.0	.	210;190;212	P09525;Q6P452;Q6LES2	ANXA4_HUMAN;.;.	N	190;212;128	ENSP00000386756:D190N;ENSP00000377833:D212N;ENSP00000441931:D128N	.	D	+	1	0	ANXA4	69899240	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.446000	0.52928	2.704000	0.92352	0.591000	0.81541	GAT		0.338	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2	NM_001153		65	127	0	0	0	1	0	65	127				
ARID1A	8289	broad.mit.edu	37	1	27087903	27087903	+	Silent	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:27087903T>C	ENST00000324856.7	+	6	2561	c.2190T>C	c.(2188-2190)agT>agC	p.S730S	ARID1A_ENST00000374152.2_Silent_p.S347S|ARID1A_ENST00000457599.2_Silent_p.S730S|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	730					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.P728fs(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCCACCCAGTGGCCAGTCGG	0.532			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	1	Complex(1)	p.P728fs(1)	liver(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(2188-2190)agT>agC		AT rich interactive domain 1A (SWI-like)							79.0	75.0	77.0					1																	27087903		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27087903T>C	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2190T>C	1.37:g.27087903T>C			Somatic				ARID1A_ENST00000374152.2_Silent_p.S347S|ARID1A_ENST00000457599.2_Silent_p.S730S	p.S730S	NM_006015.4	NP_006006.3	WXS	Illumina GAIIx	Phase_I	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	6	2561	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	730					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.2190T>C	CCDS285.1																																																																																				0.532	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		3	254	0	0	0	1	0	3	254				
NUDT16	131870	broad.mit.edu	37	3	131102114	131102114	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:131102114G>A	ENST00000521288.1	+	3	548	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	NUDT16_ENST00000359850.3_Missense_Mutation_p.E140K|RP11-933H2.4_ENST00000502521.1_RNA|NUDT16_ENST00000537561.1_Missense_Mutation_p.E127K|NUDT16_ENST00000502852.1_3'UTR			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	173	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				adenosine to inosine editing (GO:0006382)|dephosphorylation (GO:0016311)|dITP catabolic process (GO:0035863)|IDP catabolic process (GO:0046709)|mRNA catabolic process (GO:0006402)|negative regulation of rRNA processing (GO:2000233)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|snoRNA catabolic process (GO:0016077)|XDP catabolic process (GO:1901639)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cobalt ion binding (GO:0050897)|dIDP diphosphatase activity (GO:0097383)|dITP diphosphatase activity (GO:0035870)|GTP binding (GO:0005525)|inosine-diphosphatase activity (GO:0090450)|ITP binding (GO:1901641)|m7G(5')pppN diphosphatase activity (GO:0050072)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)|mRNA binding (GO:0003729)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|protein homodimerization activity (GO:0042803)|snoRNA binding (GO:0030515)|XTP binding (GO:1901640)			large_intestine(1)|lung(6)	7						GCAGTTACTTGAAGCTCTCCA	0.552																																						ENST00000359850.3																			0				large_intestine(1)|lung(6)	7						c.(418-420)Gaa>Aaa		nudix (nucleoside diphosphate linked moiety X)-type motif 16							103.0	91.0	95.0					3																	131102114		2203	4300	6503	SO:0001583	missense	131870					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding	g.chr3:131102114G>A	AK055827	CCDS3070.1, CCDS3070.2, CCDS54640.1, CCDS54641.1	3q21.3	2005-01-25						"""Nudix motif containing"""	26442	protein-coding gene	gene with protein product						12477932	Standard	NM_152395		Approved	FLJ31265	uc021xec.1	Q96DE0		ENST00000521288.1:c.517G>A	3.37:g.131102114G>A	ENSP00000429274:p.Glu173Lys		Somatic				NUDT16_ENST00000537561.1_Missense_Mutation_p.E127K|NUDT16_ENST00000521288.1_Missense_Mutation_p.E173K|NUDT16_ENST00000502852.1_3'UTR	p.E140K	NM_152395.2	NP_689608.2	WXS	Illumina GAIIx	Phase_I	Q96DE0	NUD16_HUMAN			3	557	+			173			Nudix hydrolase.		B4E3B4|E9PED4|F5GYJ1|Q96N82	Missense_Mutation	SNP	ENST00000521288.1	37	c.418G>A	CCDS3070.2	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298717	0.23650	.	.	ENSG00000198585	ENST00000537561;ENST00000359850;ENST00000521288	T;T;T	0.42900	0.96;0.96;0.96	2.85	2.85	0.33270	NUDIX hydrolase domain (1);NUDIX hydrolase domain-like (1);	0.955832	0.08608	U	0.920449	T	0.28830	0.0715	L	0.48642	1.525	0.35897	D	0.830121	P	0.46656	0.882	B	0.32022	0.139	T	0.40194	-0.9576	10	0.29301	T	0.29	-12.5192	7.2593	0.26193	0.0:0.0:0.7364:0.2636	.	173	Q96DE0	NUD16_HUMAN	K	127;140;173	ENSP00000440230:E127K;ENSP00000352911:E140K;ENSP00000429274:E173K	ENSP00000352911:E140K	E	+	1	0	NUDT16	132584804	1.000000	0.71417	0.998000	0.56505	0.515000	0.34225	2.314000	0.43743	1.887000	0.54652	0.491000	0.48974	GAA		0.552	NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356537.9	NM_152395		4	54	0	0	0	1	0	4	54				
F5	2153	broad.mit.edu	37	1	169499033	169499033	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:169499033C>T	ENST00000367797.3	-	16	5433	c.5232G>A	c.(5230-5232)ttG>ttA	p.L1744L	F5_ENST00000367796.3_Silent_p.L1749L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1744	F5/8 type A 3.|Plastocyanin-like 5.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGGGACCTATCAAGCCTGAGT	0.373																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(5245-5247)ttG>ttA		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						126.0	125.0	125.0					1																	169499033		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169499033C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.5232G>A	1.37:g.169499033C>T			Somatic				F5_ENST00000367797.3_Silent_p.L1744L	p.L1749L			WXS	Illumina GAIIx	Phase_I	P12259	FA5_HUMAN			16	5448	-	all_hematologic(923;0.208)		1744		L -> V (in dbSNP:rs6034).	F5/8 type A 3.|Plastocyanin-like 5.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.5247G>A	CCDS1281.1																																																																																				0.373	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		5	258	0	0	0	1	0	5	258				
CNTNAP4	85445	broad.mit.edu	37	16	76486590	76486590	+	Silent	SNP	C	C	A	rs151315964		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:76486590C>A	ENST00000476707.1	+	7	1405	c.1266C>A	c.(1264-1266)atC>atA	p.I422I	CNTNAP4_ENST00000307431.8_Silent_p.I418I|CNTNAP4_ENST00000377504.4_Silent_p.I370I|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.I346I			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	419	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.I394M(1)|p.I346M(1)|p.I418M(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGGGGGTATCCTCCTCTTTC	0.458																																						ENST00000307431.8																			3	Substitution - Missense(3)	p.I394M(1)|p.I346M(1)|p.I418M(1)	lung(3)	breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(1252-1254)atC>atA		contactin associated protein-like 4							73.0	73.0	73.0					16																	76486590		2198	4300	6498	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76486590C>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1266C>A	16.37:g.76486590C>A			Somatic				CNTNAP4_ENST00000377504.4_Silent_p.I370I|CNTNAP4_ENST00000478060.1_Silent_p.I346I|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.I422I	p.I418I	NM_033401.3	NP_207837.2	WXS	Illumina GAIIx	Phase_I	Q9C0A0	CNTP4_HUMAN			9	1639	+			419			Laminin G-like 2.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.1254C>A																																																																																					0.458	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		7	133	1	0	0.000274275	1	0.000281014	7	133				
ESPL1	9700	broad.mit.edu	37	12	53684167	53684167	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:53684167A>T	ENST00000257934.4	+	24	5369	c.5278A>T	c.(5278-5280)Atc>Ttc	p.I1760F	ESPL1_ENST00000552462.1_Missense_Mutation_p.I1760F	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1760					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.I1760F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GTTTGATGCCATCCAGAAGGC	0.547																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			1	Substitution - Missense(1)	p.I1760F(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(5278-5280)Atc>Ttc		extra spindle pole bodies homolog 1 (S. cerevisiae)							128.0	111.0	116.0					12																	53684167		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53684167A>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5278A>T	12.37:g.53684167A>T	ENSP00000257934:p.Ile1760Phe		Somatic				ESPL1_ENST00000552462.1_Missense_Mutation_p.I1760F	p.I1760F	NM_012291.4	NP_036423.4	WXS	Illumina GAIIx	Phase_I	Q14674	ESPL1_HUMAN			24	5369	+			1760						Missense_Mutation	SNP	ENST00000257934.4	37	c.5278A>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568623	0.86439	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.15603	2.41;2.41	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	M	0.82823	2.61	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.50583	-0.8811	10	0.87932	D	0	.	14.5491	0.68054	1.0:0.0:0.0:0.0	.	1760	Q14674	ESPL1_HUMAN	F	1760;1435;1760	ENSP00000257934:I1760F;ENSP00000449831:I1760F	ENSP00000257934:I1760F	I	+	1	0	ESPL1	51970434	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	4.875000	0.63072	2.277000	0.76020	0.528000	0.53228	ATC		0.547	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		70	138	0	0	0	1	0	70	138				
PNMA1	9240	broad.mit.edu	37	14	74179821	74179821	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:74179821C>T	ENST00000316836.3	-	1	1307	c.522G>A	c.(520-522)gaG>gaA	p.E174E		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	174					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		caaaggtttcctctccaggcc	0.493																																						ENST00000316836.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13						c.(520-522)gaG>gaA		paraneoplastic Ma antigen 1							48.0	49.0	49.0					14																	74179821		2202	4300	6502	SO:0001819	synonymous_variant	9240				apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding	g.chr14:74179821C>T	AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.522G>A	14.37:g.74179821C>T			Somatic					p.E174E	NM_006029.4	NP_006020.4	WXS	Illumina GAIIx	Phase_I	Q8ND90	PNMA1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)	1	1307	-			174					A8K4L5|O95144|Q8NG07	Silent	SNP	ENST00000316836.3	37	c.522G>A	CCDS9818.1																																																																																				0.493	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1	NM_006029		4	58	0	0	0	1	0	4	58				
ATP5B	506	broad.mit.edu	37	12	57033957	57033957	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:57033957T>C	ENST00000262030.3	-	8	1144	c.1094A>G	c.(1093-1095)gAt>gGt	p.D365G	ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Missense_Mutation_p.D354G	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	365					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)	p.D365G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGTCAAGTCATCAGCAGGCAC	0.483																																						ENST00000262030.3																			1	Substitution - Missense(1)	p.D365G(1)	kidney(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1093-1095)gAt>gGt		ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide							119.0	105.0	110.0					12																	57033957		2203	4300	6503	SO:0001583	missense	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57033957T>C	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1094A>G	12.37:g.57033957T>C	ENSP00000262030:p.Asp365Gly		Somatic				ATP5B_ENST00000552919.1_Missense_Mutation_p.D354G|ATP5B_ENST00000550162.1_5'UTR	p.D365G	NM_001686.3	NP_001677.2	WXS	Illumina GAIIx	Phase_I	P06576	ATPB_HUMAN			8	1144	-			365					A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	c.1094A>G	CCDS8924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.27|18.27	3.587272|3.587272	0.66105|0.66105	.|.	.|.	ENSG00000110955|ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000551570|ENST00000552959	T;T;T|.	0.76060|.	-0.99;-0.99;-0.99|.	5.77|5.77	5.77|5.77	0.91146|0.91146	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78910|.	0.4358|.	M|M	0.86178|0.86178	2.8|2.8	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.81468|.	-0.0919|.	10|.	0.87932|.	D|.	0|.	-33.2737|-33.2737	15.0783|15.0783	0.72093|0.72093	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	365|.	P06576|.	ATPB_HUMAN|.	G|W	365;354;109|301	ENSP00000262030:D365G;ENSP00000450297:D354G;ENSP00000448428:D109G|.	ENSP00000262030:D365G|.	D|X	-|-	2|3	0|0	ATP5B|ATP5B	55320224|55320224	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.871000|7.871000	0.87180|0.87180	2.199000|2.199000	0.70637|0.70637	0.533000|0.533000	0.62120|0.62120	GAT|TGA		0.483	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		50	96	0	0	0	1	0	50	96				
FAM3C	10447	broad.mit.edu	37	7	121023056	121023056	+	De_novo_Start_OutOfFrame	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:121023056A>C	ENST00000359943.3	-	0	181					NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C						multicellular organismal development (GO:0007275)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	cytokine activity (GO:0005125)			kidney(1)|lung(8)	9	all_neural(327;0.117)					ACTTTTCATTAATATGCTCCT	0.303																																						ENST00000359943.3																			0				kidney(1)|lung(8)	9								family with sequence similarity 3, member C							62.0	66.0	65.0					7																	121023056		2201	4287	6488			10447				multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity	g.chr7:121023056A>C	D87120	CCDS5782.1	7q22.1-q31.1	2014-08-14			ENSG00000196937	ENSG00000196937			18664	protein-coding gene	gene with protein product	"""predicted osteoblast protein"", ""interleukin-like EMT inducer"", ""interleukin-like epithelial-mesenchymal transition inducer"""	608618				12160727	Standard	NM_014888		Approved	GS3876, ILEI	uc010lkm.3	Q92520	OTTHUMG00000156979	ENST00000359943.3:c.-33T>G	7.37:g.121023056A>C			Somatic						NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	WXS	Illumina GAIIx	Phase_I	Q92520	FAM3C_HUMAN			0	181	-	all_neural(327;0.117)							A6NDN2|A8K3R7	Translation_Start_Site	SNP	ENST00000359943.3	37		CCDS5782.1																																																																																				0.303	FAM3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346945.1	NM_001040020		16	28	0	0	0	1	0	16	28				
NFE2L2	4780	broad.mit.edu	37	2	178096592	178096592	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:178096592G>A	ENST00000397062.3	-	5	1293	c.739C>T	c.(739-741)Ctt>Ttt	p.L247F	NFE2L2_ENST00000446151.2_Missense_Mutation_p.L224F|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L231F|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L231F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	247					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAAGCATTAAGAAAATGTGGA	0.403			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		0				central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(739-741)Ctt>Ttt		nuclear factor, erythroid 2-like 2							123.0	112.0	116.0					2																	178096592		1880	4122	6002	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178096592G>A		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.739C>T	2.37:g.178096592G>A	ENSP00000380252:p.Leu247Phe	HNSCC(56;0.16)	Somatic				NFE2L2_ENST00000397063.4_Missense_Mutation_p.L231F|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L231F|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L224F	p.L247F	NM_006164.4	NP_006155.2	WXS	Illumina GAIIx	Phase_I	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	1293	-			247					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.739C>T	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733755	0.48939	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000430047;ENST00000421929	T;T;T;T;T;T	0.58652	2.15;2.14;2.15;1.76;0.32;1.25	6.17	4.31	0.51392	.	0.274240	0.42420	D	0.000719	T	0.58337	0.2115	M	0.74881	2.28	0.80722	D	1	P;P	0.46706	0.808;0.883	P;P	0.45037	0.467;0.467	T	0.59757	-0.7394	10	0.56958	D	0.05	-8.5384	6.8663	0.24094	0.0661:0.1292:0.6701:0.1346	.	224;247	E9PGJ7;Q16236	.;NF2L2_HUMAN	F	231;247;224;231;44;231	ENSP00000380253:L231F;ENSP00000380252:L247F;ENSP00000411575:L224F;ENSP00000400073:L231F;ENSP00000391291:L44F;ENSP00000412191:L231F	ENSP00000380252:L247F	L	-	1	0	NFE2L2	177804838	1.000000	0.71417	0.969000	0.41365	0.927000	0.56198	2.822000	0.48073	0.874000	0.35823	0.655000	0.94253	CTT		0.403	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		10	121	0	0	0	1	0	10	121				
EPHA10	284656	broad.mit.edu	37	1	38189012	38189012	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:38189012G>A	ENST00000373048.4	-	9	1804	c.1805C>T	c.(1804-1806)gCc>gTc	p.A602V	EPHA10_ENST00000427468.2_Missense_Mutation_p.A602V|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.A97V|EPHA10_ENST00000540011.1_Missense_Mutation_p.A97V	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	602					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTCATCATGGGCATCCCCTCC	0.622																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1804-1806)gCc>gTc		EPH receptor A10							76.0	78.0	78.0					1																	38189012		2043	4173	6216	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38189012G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1805C>T	1.37:g.38189012G>A	ENSP00000362139:p.Ala602Val		Somatic				EPHA10_ENST00000540011.1_Missense_Mutation_p.A97V|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.A602V|EPHA10_ENST00000330210.7_Missense_Mutation_p.A97V	p.A602V	NM_001099439.1	NP_001092909.1	WXS	Illumina GAIIx	Phase_I	Q5JZY3	EPHAA_HUMAN			9	1804	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	602					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.1805C>T	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199335	0.58126	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	4.58	3.64	0.41730	.	0.276138	0.19508	N	0.112568	T	0.11367	0.0277	M	0.61703	1.905	0.24994	N	0.991519	P	0.38978	0.652	B	0.33960	0.173	T	0.14117	-1.0484	10	0.35671	T	0.21	.	10.8713	0.46885	0.0:0.4478:0.5521:0.0	.	602	Q5JZY3	EPHAA_HUMAN	V	97;602;97;602	ENSP00000330379:A97V;ENSP00000397746:A602V;ENSP00000441822:A97V;ENSP00000362139:A602V	ENSP00000330379:A97V	A	-	2	0	EPHA10	37961599	0.998000	0.40836	0.804000	0.32291	0.748000	0.42578	3.752000	0.55172	2.114000	0.64651	0.313000	0.20887	GCC		0.622	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		3	91	0	0	0	1	0	3	91				
IGF2BP1	10642	broad.mit.edu	37	17	47119732	47119732	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:47119732C>A	ENST00000290341.3	+	9	1404	c.1070C>A	c.(1069-1071)gCc>gAc	p.A357D	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A218D	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	357	Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GATGTGGCTGCCATGAGCGTG	0.542																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1069-1071)gCc>gAc		insulin-like growth factor 2 mRNA binding protein 1							96.0	95.0	96.0					17																	47119732		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47119732C>A	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1070C>A	17.37:g.47119732C>A	ENSP00000290341:p.Ala357Asp		Somatic				IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A218D	p.A357D	NM_006546.3	NP_006537.3	WXS	Illumina GAIIx	Phase_I	Q9NZI8	IF2B1_HUMAN			9	1404	+			357			Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.1070C>A	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953610	0.73902	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.33216	2.17;1.42	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	M	0.68317	2.08	0.80722	D	1	D;B	0.54601	0.967;0.114	D;B	0.65874	0.939;0.094	T	0.53012	-0.8498	10	0.56958	D	0.05	-24.2664	19.5457	0.95295	0.0:1.0:0.0:0.0	.	218;357	C9JT33;Q9NZI8	.;IF2B1_HUMAN	D	357;218	ENSP00000290341:A357D;ENSP00000389135:A218D	ENSP00000290341:A357D	A	+	2	0	IGF2BP1	44474731	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.685000	0.84117	2.763000	0.94921	0.655000	0.94253	GCC		0.542	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		3	65	1	0	1	1	1	3	65				
N4BP2	55728	broad.mit.edu	37	4	40123363	40123363	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:40123363C>T	ENST00000261435.6	+	9	4048	c.3632C>T	c.(3631-3633)cCt>cTt	p.P1211L		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1211					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GCTGTCACTCCTGAAAACCAT	0.418																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(3631-3633)cCt>cTt		NEDD4 binding protein 2							72.0	72.0	72.0					4																	40123363		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40123363C>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3632C>T	4.37:g.40123363C>T	ENSP00000261435:p.Pro1211Leu		Somatic					p.P1211L	NM_018177.4	NP_060647.2	WXS	Illumina GAIIx	Phase_I	Q86UW6	N4BP2_HUMAN			9	4048	+			1211					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.3632C>T	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	C	6.854	0.526884	0.13066	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.16897	2.31	5.62	4.77	0.60923	.	0.540515	0.17007	N	0.190647	T	0.12433	0.0302	N	0.19112	0.55	0.43222	D	0.995101	B;B	0.22146	0.065;0.039	B;B	0.21708	0.036;0.016	T	0.07462	-1.0771	10	0.45353	T	0.12	-2.1315	12.2497	0.54591	0.0:0.9223:0.0:0.0777	.	1211;1211	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	L	1211;1131	ENSP00000261435:P1211L	ENSP00000261435:P1211L	P	+	2	0	N4BP2	39799758	0.081000	0.21417	0.903000	0.35520	0.071000	0.16799	0.146000	0.16180	2.656000	0.90262	0.563000	0.77884	CCT		0.418	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		5	100	0	0	0	1	0	5	100				
COL6A3	1293	broad.mit.edu	37	2	238244811	238244811	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:238244811C>T	ENST00000295550.4	-	40	9384	c.8932G>A	c.(8932-8934)Gct>Act	p.A2978T	COL6A3_ENST00000346358.4_Missense_Mutation_p.A2778T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2772T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2371T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2777T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2772T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2978	Ala-rich.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A2978T(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGGTGGCAGCTGGTTTGGCT	0.587																																						ENST00000295550.4																			1	Substitution - Missense(1)	p.A2978T(1)	kidney(1)	breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(8932-8934)Gct>Act		collagen, type VI, alpha 3							39.0	36.0	37.0					2																	238244811		2036	4009	6045	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238244811C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8932G>A	2.37:g.238244811C>T	ENSP00000295550:p.Ala2978Thr		Somatic				COL6A3_ENST00000472056.1_Missense_Mutation_p.A2371T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2772T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2772T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2777T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2778T	p.A2978T	NM_004369.3	NP_004360.2	WXS	Illumina GAIIx	Phase_I	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	40	9384	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2978			Ala-rich.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.8932G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	7.713	0.695595	0.15106	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.90069	-2.61;-2.48;-2.48;-2.56;-2.48;-2.46	4.86	2.91	0.33838	.	0.597758	0.13535	N	0.380693	D	0.84442	0.5473	L	0.55834	1.745	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.74453	-0.3660	10	0.45353	T	0.12	.	7.4679	0.27332	0.0:0.7097:0.1856:0.1047	.	2371;2772;2978	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	T	2978;2777;2772;2371;2772;2778	ENSP00000295550:A2978T;ENSP00000315609:A2777T;ENSP00000315873:A2772T;ENSP00000418285:A2371T;ENSP00000386844:A2772T;ENSP00000295546:A2778T	ENSP00000295550:A2978T	A	-	1	0	COL6A3	237909550	0.000000	0.05858	0.014000	0.15608	0.504000	0.33889	-0.537000	0.06128	1.032000	0.39892	0.563000	0.77884	GCT		0.587	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		22	68	0	0	0	1	0	22	68				
GPR112	139378	broad.mit.edu	37	X	135441449	135441449	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chrX:135441449A>T	ENST00000394143.1	+	11	7271		c.e11-1		GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Splice_Site|GPR112_ENST00000412101.1_Splice_Site|GPR112_ENST00000370652.1_Splice_Site	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTGCTTTGTAGTTGTGTTTG	0.373																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.e11-1		G protein-coupled receptor 112							155.0	147.0	150.0					X																	135441449		2203	4299	6502	SO:0001630	splice_region_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135441449A>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6981-1A>T	X.37:g.135441449A>T			Somatic				GPR112_ENST00000287534.4_Intron|GPR112_ENST00000370652.1_Splice_Site|GPR112_ENST00000412101.1_Splice_Site|GPR112_ENST00000394141.1_Splice_Site		NM_153834.3	NP_722576.3	WXS	Illumina GAIIx	Phase_I	Q8IZF6	GP112_HUMAN			11	7271	+	Acute lymphoblastic leukemia(192;0.000127)							A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Splice_Site	SNP	ENST00000394143.1	37		CCDS35409.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486662	0.26686	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000394141	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5242	0.50569	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR112	135269115	0.992000	0.36948	0.890000	0.34922	0.067000	0.16453	4.125000	0.57931	1.994000	0.58287	0.486000	0.48141	.		0.373	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		Intron	5	368	0	0	0	1	0	5	368				
AHNAK2	113146	broad.mit.edu	37	14	105421823	105421823	+	Missense_Mutation	SNP	C	C	T	rs267603898		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:105421823C>T	ENST00000333244.5	-	5	582	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	155	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGGCACCTTCTCTCAAGTTA	0.582																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(463-465)Gaa>Aaa		AHNAK nucleoprotein 2							74.0	81.0	78.0					14																	105421823		1993	4165	6158	SO:0001583	missense	113146					nucleus		g.chr14:105421823C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.463G>A	14.37:g.105421823C>T	ENSP00000353114:p.Glu155Lys		Somatic					p.E155K	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		5	582	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	155			PDZ.		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.463G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	18.49	3.634447	0.67130	.	.	ENSG00000185567	ENST00000333244	T	0.03524	3.9	4.72	3.83	0.44106	PDZ/DHR/GLGF (3);	0.185425	0.39210	U	0.001429	T	0.08802	0.0218	L	0.49256	1.55	0.25122	N	0.99064	D	0.56521	0.976	P	0.54060	0.741	T	0.04041	-1.0982	10	0.87932	D	0	.	11.2184	0.48840	0.0:0.9152:0.0:0.0848	.	155	Q8IVF2	AHNK2_HUMAN	K	155	ENSP00000353114:E155K	ENSP00000353114:E155K	E	-	1	0	AHNAK2	104492868	0.835000	0.29415	0.998000	0.56505	0.543000	0.35085	1.058000	0.30504	1.213000	0.43380	0.650000	0.86243	GAA		0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		10	32	0	0	0	1	0	10	32				
ZNF565	147929	broad.mit.edu	37	19	36674268	36674268	+	Silent	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:36674268A>G	ENST00000355114.5	-	5	1446	c.720T>C	c.(718-720)tgT>tgC	p.C240C	ZNF565_ENST00000304116.5_Silent_p.C200C|ZNF565_ENST00000392173.2_Silent_p.C200C			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AGGCCTTCCCACATTCCTTAC	0.468																																						ENST00000355114.5																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(718-720)tgT>tgC		zinc finger protein 565							90.0	80.0	83.0					19																	36674268		2203	4300	6503	SO:0001819	synonymous_variant	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36674268A>G	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.720T>C	19.37:g.36674268A>G			Somatic				ZNF565_ENST00000304116.5_Silent_p.C200C|ZNF565_ENST00000392173.2_Silent_p.C200C	p.C240C			WXS	Illumina GAIIx	Phase_I	Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	1446	-	Esophageal squamous(110;0.162)		200					B3KQ35|Q6NUS2	Silent	SNP	ENST00000355114.5	37	c.720T>C																																																																																					0.468	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		8	180	0	0	0	1	0	8	180				
UBP1	7342	broad.mit.edu	37	3	33434899	33434899	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:33434899G>A	ENST00000283629.3	-	14	1967	c.1438C>T	c.(1438-1440)Cga>Tga	p.R480*	UBP1_ENST00000283628.5_Nonsense_Mutation_p.R480*|UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000447368.2_Nonsense_Mutation_p.R444*	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	480					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						GCAAGTTTTCGAGCAACTTCT	0.353																																						ENST00000283629.3																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(1438-1440)Cga>Tga		upstream binding protein 1 (LBP-1a)							80.0	79.0	79.0					3																	33434899		2203	4300	6503	SO:0001587	stop_gained	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33434899G>A	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.1438C>T	3.37:g.33434899G>A	ENSP00000283629:p.Arg480*		Somatic				UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000447368.2_Nonsense_Mutation_p.R444*|UBP1_ENST00000283628.5_Nonsense_Mutation_p.R480*	p.R480*	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	WXS	Illumina GAIIx	Phase_I	Q9NZI7	UBIP1_HUMAN			14	1967	-			480					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Nonsense_Mutation	SNP	ENST00000283629.3	37	c.1438C>T	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	G	39	7.534764	0.98342	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	.	.	.	5.89	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-5.2433	11.9868	0.53153	0.0:0.1315:0.7315:0.1369	.	.	.	.	X	480;444;480	.	ENSP00000283628:R480X	R	-	1	2	UBP1	33409903	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.326000	0.43849	1.480000	0.48289	0.557000	0.71058	CGA		0.353	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		3	57	0	0	0	1	0	3	57				
RGL1	23179	broad.mit.edu	37	1	183816775	183816775	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:183816775G>T	ENST00000360851.3	+	3	392	c.214G>T	c.(214-216)Ggc>Tgc	p.G72C	RGL1_ENST00000536277.1_Missense_Mutation_p.G70C|RGL1_ENST00000539189.1_Missense_Mutation_p.G72C|RGL1_ENST00000304685.4_Missense_Mutation_p.G107C			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	72	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CATAAAAGCTGGCACCTTGGA	0.443																																						ENST00000304685.3																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(319-321)Ggc>Tgc		ral guanine nucleotide dissociation stimulator-like 1							167.0	170.0	169.0					1																	183816775		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183816775G>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.214G>T	1.37:g.183816775G>T	ENSP00000354097:p.Gly72Cys		Somatic				RGL1_ENST00000539189.1_Missense_Mutation_p.G72C|RGL1_ENST00000367531.1_Missense_Mutation_p.G107C|RGL1_ENST00000536277.1_Missense_Mutation_p.G70C|RGL1_ENST00000360851.3_Missense_Mutation_p.G72C	p.G107C	NM_015149.3	NP_055964.3	WXS	Illumina GAIIx	Phase_I	Q9NZL6	RGL1_HUMAN			4	780	+			72			N-terminal Ras-GEF.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.319G>T		.	.	.	.	.	.	.	.	.	.	G	27.5	4.838816	0.91117	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	5.61	5.61	0.85477	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.75221	-0.3394	10	0.87932	D	0	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	72;70;72;107	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	C	107;107;70;72;72	ENSP00000303192:G107C;ENSP00000356501:G107C;ENSP00000438662:G70C;ENSP00000354097:G72C;ENSP00000437355:G72C	ENSP00000303192:G107C	G	+	1	0	RGL1	182083398	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.184000	0.94893	2.793000	0.96121	0.655000	0.94253	GGC		0.443	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		18	486	1	0	4.63292e-17	1	4.87861e-17	18	486				
MTMR3	8897	broad.mit.edu	37	22	30415933	30415933	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:30415933C>T	ENST00000401950.2	+	17	2627	c.2285C>T	c.(2284-2286)tCa>tTa	p.S762L	CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.S762L|MTMR3_ENST00000406629.1_Missense_Mutation_p.S762L|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.S626L|MTMR3_ENST00000351488.3_Missense_Mutation_p.S762L	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	762					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CCTCTGTTCTCACAGGGCATT	0.577																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(2284-2286)tCa>tTa		myotubularin related protein 3							80.0	80.0	80.0					22																	30415933		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30415933C>T	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2285C>T	22.37:g.30415933C>T	ENSP00000384651:p.Ser762Leu		Somatic				MTMR3_ENST00000401950.2_Missense_Mutation_p.S762L|MTMR3_ENST00000323630.5_Missense_Mutation_p.S626L|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.S762L|MTMR3_ENST00000406629.1_Missense_Mutation_p.S762L	p.S762L	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	WXS	Illumina GAIIx	Phase_I	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	2613	+			762					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.2285C>T	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	C	5.600	0.295377	0.10622	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.93189	-2.98;-2.96;-3.18;-3.01;-2.96	4.81	3.73	0.42828	.	3.024400	0.00873	N	0.002054	D	0.87791	0.6266	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.003;0.001;0.003	T	0.75379	-0.3338	10	0.72032	D	0.01	.	8.1021	0.30863	0.0:0.7391:0.1651:0.0958	.	762;762;762	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	L	762;762;626;762;762	ENSP00000384651:S762L;ENSP00000331649:S762L;ENSP00000318070:S626L;ENSP00000307271:S762L;ENSP00000384077:S762L	ENSP00000318070:S626L	S	+	2	0	MTMR3	28745933	0.116000	0.22171	0.898000	0.35279	0.174000	0.22865	2.690000	0.47001	2.494000	0.84150	0.462000	0.41574	TCA		0.577	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		41	169	0	0	0	1	0	41	169				
SETMAR	6419	broad.mit.edu	37	3	4355104	4355104	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:4355104G>A	ENST00000358065.4	+	2	746	c.679G>A	c.(679-681)Gag>Aag	p.E227K	SETMAR_ENST00000430981.1_Missense_Mutation_p.E227K|SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	227	Histone-lysine N-methyltransferase.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TCATTCTTGTGAGCCAAACCT	0.378								Chromatin Structure																														ENST00000358065.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9						c.(679-681)Gag>Aag	Chromatin Structure	SET domain and mariner transposase fusion gene							86.0	86.0	86.0					3																	4355104		2203	4300	6503	SO:0001583	missense	6419				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding	g.chr3:4355104G>A	U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.679G>A	3.37:g.4355104G>A	ENSP00000373354:p.Glu227Lys		Somatic				SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.E227K|SETMAR_ENST00000425863.1_Intron	p.E227K	NM_006515.3	NP_006506.3	WXS	Illumina GAIIx	Phase_I	Q53H47	SETMR_HUMAN		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)	2	746	+		Melanoma(143;0.0657)	214			Histone-lysine N-methyltransferase.|SET.		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	ENST00000358065.4	37	c.679G>A	CCDS2563.2	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480666	0.63849	.	.	ENSG00000170364	ENST00000358065;ENST00000430981	D;D	0.89875	-2.58;-2.58	5.17	5.17	0.71159	SET domain (3);	.	.	.	.	D	0.91720	0.7382	L	0.54965	1.715	0.80722	D	1	D;P	0.54207	0.965;0.932	P;P	0.55545	0.778;0.555	D	0.92556	0.6054	9	0.72032	D	0.01	.	18.6997	0.91615	0.0:0.0:1.0:0.0	.	214;227	Q53H47;C9JHK2	SETMR_HUMAN;.	K	227	ENSP00000373354:E227K;ENSP00000403000:E227K	ENSP00000373354:E227K	E	+	1	0	SETMAR	4330104	1.000000	0.71417	0.994000	0.49952	0.185000	0.23345	3.503000	0.53340	2.393000	0.81446	0.650000	0.86243	GAG		0.378	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515		5	54	0	0	0	1	0	5	54				
TUBA4A	7277	broad.mit.edu	37	2	220116808	220116808	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:220116808T>G	ENST00000248437.4	-	2	321	c.148A>C	c.(148-150)Acc>Ccc	p.T50P	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Missense_Mutation_p.T35P|TUBA4A_ENST00000498660.1_Intron	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	50					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.T50P(1)|p.T35P(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	AAGAAGGTGGTGAAGGAGTCG	0.542																																						ENST00000392088.2																			2	Substitution - Missense(2)	p.T50P(1)|p.T35P(1)	kidney(2)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(103-105)Acc>Ccc		tubulin, alpha 4a							96.0	81.0	86.0					2																	220116808		2203	4300	6503	SO:0001583	missense	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220116808T>G	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.148A>C	2.37:g.220116808T>G	ENSP00000248437:p.Thr50Pro		Somatic				TUBA4A_ENST00000248437.4_Missense_Mutation_p.T50P|TUBA4A_ENST00000498660.1_Intron	p.T35P	NM_001278552.1	NP_001265481.1	WXS	Illumina GAIIx	Phase_I	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	658	-		Renal(207;0.0474)	50					A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	c.103A>C	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.207333	0.39003	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000427737;ENST00000456818;ENST00000447205;ENST00000425551	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.31	4.31	0.51392	Tubulin/FtsZ, GTPase domain (4);	0.065363	0.64402	D	0.000016	T	0.65207	0.2669	L	0.58583	1.82	0.58432	D	0.999999	B	0.21071	0.051	B	0.28784	0.094	T	0.67734	-0.5594	10	0.87932	D	0	.	13.9316	0.63998	0.0:0.0:0.0:1.0	.	50	P68366	TBA4A_HUMAN	P	50;35;35;73;35;52	ENSP00000248437:T50P;ENSP00000375938:T35P;ENSP00000408194:T35P;ENSP00000416992:T73P;ENSP00000396061:T35P;ENSP00000404740:T52P	ENSP00000248437:T50P	T	-	1	0	TUBA4A	219825052	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.131000	0.71670	1.942000	0.56320	0.459000	0.35465	ACC		0.542	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		62	136	0	0	0	1	0	62	136				
NSMAF	8439	broad.mit.edu	37	8	59506794	59506794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:59506794G>A	ENST00000038176.3	-	23	2160	c.1948C>T	c.(1948-1950)Caa>Taa	p.Q650*	NSMAF_ENST00000427130.2_Nonsense_Mutation_p.Q681*	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	650					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CACTGACCTTGGGATGTTGTG	0.428																																						ENST00000038176.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(1948-1950)Caa>Taa		neutral sphingomyelinase (N-SMase) activation associated factor							121.0	114.0	116.0					8																	59506794		2203	4300	6503	SO:0001587	stop_gained	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59506794G>A	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1948C>T	8.37:g.59506794G>A	ENSP00000038176:p.Gln650*		Somatic				NSMAF_ENST00000427130.2_Nonsense_Mutation_p.Q681*	p.Q650*	NM_003580.3	NP_003571.2	WXS	Illumina GAIIx	Phase_I	Q92636	FAN_HUMAN			23	2160	-		all_lung(136;0.174)|Lung NSC(129;0.2)	650					B4DFB0|E9PCH0|Q8IW26	Nonsense_Mutation	SNP	ENST00000038176.3	37	c.1948C>T	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	G	39	7.881694	0.98542	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	.	.	.	5.83	5.83	0.93111	.	0.054881	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1072	0.93301	0.0:0.0:1.0:0.0	.	.	.	.	X	650;681	.	.	Q	-	1	0	NSMAF	59669348	1.000000	0.71417	0.971000	0.41717	0.172000	0.22775	6.589000	0.74080	2.763000	0.94921	0.555000	0.69702	CAA		0.428	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		42	104	0	0	0	1	0	42	104				
VWA3B	200403	broad.mit.edu	37	2	98736074	98736074	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:98736074C>T	ENST00000477737.1	+	4	594	c.390C>T	c.(388-390)agC>agT	p.S130S	VWA3B_ENST00000435344.1_Silent_p.S130S|VWA3B_ENST00000451075.2_Intron	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	130										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCAGCAAGAGCCGGCAGATTT	0.493																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(388-390)agC>agT		von Willebrand factor A domain containing 3B							159.0	155.0	156.0					2																	98736074		1967	4148	6115	SO:0001819	synonymous_variant	200403							g.chr2:98736074C>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.390C>T	2.37:g.98736074C>T			Somatic				VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Silent_p.S130S	p.S130S	NM_144992.4	NP_659429.4	WXS	Illumina GAIIx	Phase_I	Q502W6	VWA3B_HUMAN			4	594	+			130					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	37	c.390C>T	CCDS42718.1																																																																																				0.493	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		4	332	0	0	0	1	0	4	332				
DDX24	57062	broad.mit.edu	37	14	94521373	94521373	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:94521373G>A	ENST00000330836.5	-	7	2278	c.2147C>T	c.(2146-2148)cCc>cTc	p.P716L	DDX24_ENST00000555054.1_Missense_Mutation_p.P673L|DDX24_ENST00000544005.1_Missense_Mutation_p.P466L	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	716	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TGTCTGCACGGGGAACAGTGG	0.458																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(2146-2148)cCc>cTc		DEAD (Asp-Glu-Ala-Asp) box helicase 24							335.0	309.0	318.0					14																	94521373		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94521373G>A	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.2147C>T	14.37:g.94521373G>A	ENSP00000328690:p.Pro716Leu		Somatic				DDX24_ENST00000544005.1_Missense_Mutation_p.P466L|DDX24_ENST00000555054.1_Missense_Mutation_p.P673L	p.P716L	NM_020414.3	NP_065147.1	WXS	Illumina GAIIx	Phase_I	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	7	2278	-		all_cancers(154;0.12)	716			Helicase C-terminal.		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.2147C>T	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227924	0.58777	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.04275	3.75;3.66;3.76	5.58	5.58	0.84498	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.18841	0.0452	L	0.49513	1.565	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.00066	-1.2144	10	0.87932	D	0	-10.0443	19.5725	0.95427	0.0:0.0:1.0:0.0	.	716	Q9GZR7	DDX24_HUMAN	L	716;466;661;342;673;673	ENSP00000328690:P716L;ENSP00000440623:P466L;ENSP00000452145:P673L	ENSP00000328690:P716L	P	-	2	0	DDX24	93591126	1.000000	0.71417	0.988000	0.46212	0.011000	0.07611	9.776000	0.99001	2.613000	0.88420	0.655000	0.94253	CCC		0.458	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		10	1288	0	0	0	1	0	10	1288				
HIST1H2BD	3017	broad.mit.edu	37	6	26158616	26158616	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:26158616C>T	ENST00000289316.2	+	1	243	c.219C>T	c.(217-219)cgC>cgT	p.R73R	HIST1H2BD_ENST00000377777.4_Silent_p.R73R	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	73					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TCTTCGAGCGCATCGCAGGCG	0.597																																						ENST00000289316.2																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						c.(217-219)cgC>cgT		histone cluster 1, H2bd							152.0	147.0	149.0					6																	26158616		2203	4300	6503	SO:0001819	synonymous_variant	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158616C>T	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.219C>T	6.37:g.26158616C>T			Somatic				HIST1H2BD_ENST00000377777.4_Silent_p.R73R	p.R73R	NM_138720.2	NP_619790.1	WXS	Illumina GAIIx	Phase_I	P58876	H2B1D_HUMAN			1	243	+			73						Silent	SNP	ENST00000289316.2	37	c.219C>T	CCDS4587.1																																																																																				0.597	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		81	512	0	0	0	1	0	81	512				
TP53	7157	broad.mit.edu	37	17	7579591	7579591	+	Splice_Site	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:7579591C>T	ENST00000269305.4	-	4	286		c.e4-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAAGGGGGACTGTAGATGGG	0.592		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(1)	bone(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|pancreas(3)|upper_aerodigestive_tract(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CS971912	TP53	S		c.e4-1	Other conserved DNA damage response genes	tumor protein p53							141.0	137.0	138.0					17																	7579591		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579591C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.97-1G>A	17.37:g.7579591C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	229	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	6.702	0.498192	0.12762	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	2.49	2.49	0.30216	.	.	.	.	.	.	.	.	.	.	.	0.40380	D	0.979434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6143	0.33822	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520316	0.879000	0.30193	0.021000	0.16686	0.027000	0.11550	1.937000	0.40193	1.730000	0.51580	0.561000	0.74099	.		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	7	851	0	0	0	1	0	7	851				
NLRX1	79671	broad.mit.edu	37	11	119053914	119053914	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:119053914G>A	ENST00000409109.1	+	10	3281	c.2694G>A	c.(2692-2694)gtG>gtA	p.V898V	NLRX1_ENST00000409265.4_Intron|NLRX1_ENST00000409991.1_Silent_p.V898V|PDZD3_ENST00000531114.1_5'Flank|NLRX1_ENST00000292199.2_Silent_p.V898V|PDZD3_ENST00000355547.5_5'Flank|PDZD3_ENST00000525131.1_5'Flank|NLRX1_ENST00000525863.1_Intron|PDZD3_ENST00000392817.2_5'Flank|PDZD3_ENST00000322712.4_5'Flank	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	898	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGGTGGTGGTGTCACTGACAG	0.612																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(2692-2694)gtG>gtA		NLR family member X1							87.0	80.0	82.0					11																	119053914		2200	4295	6495	SO:0001819	synonymous_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119053914G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2694G>A	11.37:g.119053914G>A			Somatic				NLRX1_ENST00000409991.1_Silent_p.V898V|NLRX1_ENST00000525863.1_Intron|NLRX1_ENST00000409265.4_Intron|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000292199.2_Silent_p.V898V	p.V898V			WXS	Illumina GAIIx	Phase_I	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	10	3281	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	898			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	ENST00000409109.1	37	c.2694G>A	CCDS8416.1																																																																																				0.612	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		3	66	0	0	0	1	0	3	66				
EFCAB5	374786	broad.mit.edu	37	17	28405393	28405393	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:28405393G>T	ENST00000394835.3	+	15	3090	c.2898G>T	c.(2896-2898)gaG>gaT	p.E966D	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E842D	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	966							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ATGCTTTAGAGAGGAGCCACA	0.463																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(2896-2898)gaG>gaT		EF-hand calcium binding domain 5							120.0	116.0	117.0					17																	28405393		1897	4126	6023	SO:0001583	missense	374786						calcium ion binding	g.chr17:28405393G>T	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2898G>T	17.37:g.28405393G>T	ENSP00000378312:p.Glu966Asp		Somatic				EFCAB5_ENST00000320856.5_Missense_Mutation_p.E842D|EFCAB5_ENST00000394832.2_Intron	p.E966D	NM_198529.3	NP_940931.2	WXS	Illumina GAIIx	Phase_I	A4FU69	EFCB5_HUMAN			15	3090	+			966					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.2898G>T	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	8.056	0.767094	0.15983	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.11712	2.75;2.78;2.77	4.89	-1.47	0.08772	GAF (1);	0.544123	0.16208	N	0.224599	T	0.12263	0.0298	M	0.75264	2.295	0.09310	N	0.999999	B;P	0.52316	0.019;0.952	B;P	0.45610	0.015;0.487	T	0.10894	-1.0610	10	0.42905	T	0.14	-1.1801	2.3146	0.04195	0.3997:0.1203:0.3596:0.1204	.	842;966	E7EVS9;A4FU69	.;EFCB5_HUMAN	D	966;842;648	ENSP00000378312:E966D;ENSP00000322003:E842D;ENSP00000417009:E648D	ENSP00000322003:E842D	E	+	3	2	EFCAB5	25429519	0.016000	0.18221	0.014000	0.15608	0.000000	0.00434	-0.074000	0.11450	-0.558000	0.06118	-3.727000	0.00023	GAG		0.463	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		6	313	1	0	2.0095e-06	1	2.07931e-06	6	313				
OR1L1	26737	broad.mit.edu	37	9	125424612	125424612	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:125424612C>T	ENST00000373686.1	+	1	768	c.768C>T	c.(766-768)gtC>gtT	p.V256V	OR1L1_ENST00000309623.1_Silent_p.V206V			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V256V(1)		breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GCTTGGCTGTCATAATGACCC	0.398																																						ENST00000373686.1																			1	Substitution - coding silent(1)	p.V256V(1)	kidney(1)	breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						c.(766-768)gtC>gtT		olfactory receptor, family 1, subfamily L, member 1							191.0	188.0	189.0					9																	125424612		2203	4300	6503	SO:0001819	synonymous_variant	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125424612C>T		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.768C>T	9.37:g.125424612C>T			Somatic					p.V256V			WXS	Illumina GAIIx	Phase_I	Q8NH94	OR1L1_HUMAN			1	768	+			256					Q5T7Z3|Q6IFN2	Silent	SNP	ENST00000373686.1	37	c.768C>T																																																																																					0.398	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				470	249	0	0	0	1	0	470	249				
ZFHX3	463	broad.mit.edu	37	16	72830584	72830584	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:72830584C>G	ENST00000268489.5	-	9	6669	c.5997G>C	c.(5995-5997)aaG>aaC	p.K1999N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.K1085N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1999					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTGATGACTCTTTAAAATCA	0.443																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(5995-5997)aaG>aaC		zinc finger homeobox 3							104.0	103.0	104.0					16																	72830584		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72830584C>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5997G>C	16.37:g.72830584C>G	ENSP00000268489:p.Lys1999Asn		Somatic				ZFHX3_ENST00000397992.5_Missense_Mutation_p.K1085N	p.K1999N	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			9	6669	-		Ovarian(137;0.13)	1999					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.5997G>C	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.409049	0.42715	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.29655	1.56;2.36	5.75	4.8	0.61643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.52532	D	0.000071	T	0.52565	0.1742	M	0.64404	1.975	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.56631	-0.7947	10	0.87932	D	0	.	14.5177	0.67830	0.0:0.93:0.0:0.07	.	1999	Q15911	ZFHX3_HUMAN	N	1999;1085	ENSP00000268489:K1999N;ENSP00000438926:K1085N	ENSP00000268489:K1999N	K	-	3	2	ZFHX3	71388085	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.033000	0.70925	1.421000	0.47157	0.655000	0.94253	AAG		0.443	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		8	456	0	0	0	1	0	8	456				
PIP	5304	broad.mit.edu	37	7	142829297	142829297	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:142829297G>C	ENST00000291009.3	+	1	128	c.88G>C	c.(88-90)Gac>Cac	p.D30H		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	30					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)	p.D30H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CAAAGCTCAGGACAACACGTG	0.537																																						ENST00000291009.3																			1	Substitution - Missense(1)	p.D30H(1)	kidney(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18						c.(88-90)Gac>Cac		prolactin-induced protein							146.0	138.0	141.0					7																	142829297		2203	4299	6502	SO:0001583	missense	5304					extracellular region	actin binding	g.chr7:142829297G>C		CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.88G>C	7.37:g.142829297G>C	ENSP00000291009:p.Asp30His		Somatic					p.D30H	NM_002652.2	NP_002643.1	WXS	Illumina GAIIx	Phase_I	P12273	PIP_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)	1	128	+	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)	30					A0A963|A0A9C3|A0A9F3|A4D2I1	Missense_Mutation	SNP	ENST00000291009.3	37	c.88G>C	CCDS34768.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216217	0.58452	.	.	ENSG00000159763	ENST00000291009	T	0.14516	2.5	4.65	4.65	0.58169	.	0.758677	0.11986	N	0.510300	T	0.10852	0.0265	N	0.14661	0.345	0.09310	N	0.999999	P	0.41673	0.759	B	0.40602	0.334	T	0.17684	-1.0361	10	0.87932	D	0	.	13.2025	0.59776	0.0:0.0:1.0:0.0	.	30	P12273	PIP_HUMAN	H	30	ENSP00000291009:D30H	ENSP00000291009:D30H	D	+	1	0	PIP	142539419	0.861000	0.29849	0.229000	0.23960	0.403000	0.30841	1.152000	0.31663	2.565000	0.86533	0.655000	0.94253	GAC		0.537	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652		167	445	0	0	0	1	0	167	445				
ERBB3	2065	broad.mit.edu	37	12	56481856	56481856	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:56481856C>A	ENST00000267101.3	+	7	1224	c.784C>A	c.(784-786)Cct>Act	p.P262T	ERBB3_ENST00000415288.2_Missense_Mutation_p.P203T|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	262					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTGTCCACAGCCTCTTGTCTA	0.512																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(784-786)Cct>Act		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							92.0	85.0	88.0					12																	56481856		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56481856C>A	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.784C>A	12.37:g.56481856C>A	ENSP00000267101:p.Pro262Thr		Somatic				ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.P203T	p.P262T	NM_001982.3	NP_001973.2	WXS	Illumina GAIIx	Phase_I	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		7	1224	+			262					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.784C>A	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649502	0.29336	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	T;T	0.62639	0.01;0.01	4.78	4.78	0.61160	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.091109	0.46442	D	0.000281	T	0.55337	0.1914	L	0.37750	1.13	0.80722	D	1	B	0.23990	0.095	B	0.29176	0.099	T	0.52343	-0.8588	10	0.33940	T	0.23	.	16.7284	0.85429	0.0:1.0:0.0:0.0	.	262	P21860	ERBB3_HUMAN	T	262;262;203	ENSP00000267101:P262T;ENSP00000408340:P203T	ENSP00000267101:P262T	P	+	1	0	ERBB3	54768123	0.932000	0.31603	1.000000	0.80357	0.920000	0.55202	1.715000	0.37971	2.482000	0.83794	0.563000	0.77884	CCT		0.512	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			4	177	1	0	1	1	1	4	177				
ZGRF1	55345	broad.mit.edu	37	4	113540540	113540540	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:113540540C>T	ENST00000505019.1	-	6	783	c.658G>A	c.(658-660)Gga>Aga	p.G220R	C4orf21_ENST00000309071.5_Missense_Mutation_p.G220R|C4orf21_ENST00000445203.2_Missense_Mutation_p.G189R	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		220						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGCTTATTTCCAGAATTGACA	0.388																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(658-660)Gga>Aga		chromosome 4 open reading frame 21							49.0	52.0	51.0					4																	113540540		2202	4299	6501	SO:0001583	missense	55345							g.chr4:113540540C>T																												ENST00000505019.1:c.658G>A	4.37:g.113540540C>T	ENSP00000424737:p.Gly220Arg		Somatic				C4orf21_ENST00000309071.5_Missense_Mutation_p.G220R|C4orf21_ENST00000445203.2_Missense_Mutation_p.G189R	p.G220R	NM_018392.4	NP_060862.3	WXS	Illumina GAIIx	Phase_I	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	783	-		Ovarian(17;0.156)	220					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.658G>A		.	.	.	.	.	.	.	.	.	.	C	10.04	1.242621	0.22796	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.82344	-1.6;1.9;1.48	5.31	4.47	0.54385	.	0.772617	0.11322	N	0.576000	T	0.71558	0.3354	L	0.29908	0.895	0.09310	N	1	P;B	0.34462	0.454;0.418	B;B	0.32805	0.153;0.116	T	0.57039	-0.7879	10	0.17369	T	0.5	-0.9871	8.5738	0.33585	0.0:0.7138:0.0:0.2862	.	220;220	Q86YA3;G5EA02	CD021_HUMAN;.	R	220;220;189	ENSP00000424737:G220R;ENSP00000309095:G220R;ENSP00000390505:G189R	ENSP00000309095:G220R	G	-	1	0	C4orf21	113759989	0.931000	0.31567	0.013000	0.15412	0.019000	0.09904	1.992000	0.40737	1.232000	0.43678	0.591000	0.81541	GGA		0.388	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			5	39	0	0	0	1	0	5	39				
SLC2A13	114134	broad.mit.edu	37	12	40158549	40158549	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:40158549G>A	ENST00000280871.4	-	8	1607	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	519					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CAGGTGCAAAGAAGACAAGAT	0.338										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(1555-1557)ttC>ttT		solute carrier family 2 (facilitated glucose transporter), member 13							113.0	125.0	121.0					12																	40158549		2203	4300	6503	SO:0001819	synonymous_variant	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40158549G>A	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1557C>T	12.37:g.40158549G>A		HNSCC(50;0.14)	Somatic					p.F519F	NM_052885.3	NP_443117.3	WXS	Illumina GAIIx	Phase_I	Q96QE2	MYCT_HUMAN			8	1607	-		Lung NSC(34;0.105)|all_lung(34;0.123)	519					Q17S07	Silent	SNP	ENST00000280871.4	37	c.1557C>T	CCDS8736.2																																																																																				0.338	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			4	199	0	0	0	1	0	4	199				
WDR49	151790	broad.mit.edu	37	3	167254723	167254723	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:167254723C>T	ENST00000308378.3	-	7	1138	c.833G>A	c.(832-834)gGa>gAa	p.G278E	WDR49_ENST00000453925.2_Missense_Mutation_p.G342E|WDR49_ENST00000476376.1_Missense_Mutation_p.G103E|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	278										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTGTATACCTCCTTTCCATTC	0.393																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(832-834)gGa>gAa		WD repeat domain 49							91.0	84.0	86.0					3																	167254723		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167254723C>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.833G>A	3.37:g.167254723C>T	ENSP00000311343:p.Gly278Glu		Somatic				WDR49_ENST00000476376.1_Missense_Mutation_p.G103E|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.G342E	p.G278E	NM_178824.3	NP_849146.1	WXS	Illumina GAIIx	Phase_I	Q8IV35	WDR49_HUMAN			7	1138	-			278					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.833G>A	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.73|16.73	3.203197|3.203197	0.58234|0.58234	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600|ENST00000308378;ENST00000476376;ENST00000453925	.|T;T;T	.|0.42513	.|1.6;1.76;0.97	5.69|5.69	5.69|5.69	0.88448|0.88448	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.170991	.|0.50627	.|D	.|0.000116	T|T	0.55353|0.55353	0.1915|0.1915	L|L	0.44542|0.44542	1.39|1.39	0.42369|0.42369	D|D	0.992445|0.992445	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.996;0.998	T|T	0.40850|0.40850	-0.9541|-0.9541	5|10	.|0.10111	.|T	.|0.7	.|.	18.5851|18.5851	0.91187|0.91187	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|342;278	.|E7EQK3;Q8IV35	.|.;WDR49_HUMAN	K|E	354|278;103;342	.|ENSP00000311343:G278E;ENSP00000420508:G103E;ENSP00000410863:G342E	.|ENSP00000311343:G278E	E|G	-|-	1|2	0|0	WDR49|WDR49	168737417|168737417	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.111000|0.111000	0.19643|0.19643	5.325000|5.325000	0.65869|0.65869	2.700000|2.700000	0.92200|0.92200	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.393	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		6	190	0	0	0	1	0	6	190				
ZMYM6	9204	broad.mit.edu	37	1	35480663	35480663	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:35480663T>C	ENST00000357182.4	-	5	756	c.529A>G	c.(529-531)Aag>Gag	p.K177E	ZMYM6_ENST00000373340.2_Missense_Mutation_p.K177E|ZMYM6_ENST00000487874.1_Missense_Mutation_p.K177E|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	177					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K177E(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGTTTTTTCTTTAGCTCATAA	0.348																																						ENST00000357182.4																			1	Substitution - Missense(1)	p.K177E(1)	kidney(1)	breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(529-531)Aag>Gag		zinc finger, MYM-type 6							93.0	88.0	90.0					1																	35480663		2203	4300	6503	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35480663T>C	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.529A>G	1.37:g.35480663T>C	ENSP00000349708:p.Lys177Glu		Somatic				ZMYM6_ENST00000373340.2_Missense_Mutation_p.K177E|ZMYM6_ENST00000487874.1_Missense_Mutation_p.K177E|ZMYM6_ENST00000493328.1_5'UTR	p.K177E	NM_007167.3	NP_009098.3	WXS	Illumina GAIIx	Phase_I	O95789	ZMYM6_HUMAN			5	756	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	177					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.529A>G	CCDS387.2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978637	0.74360	.	.	ENSG00000163867	ENST00000373340;ENST00000357182;ENST00000415531	T;T;T	0.36878	1.78;2.9;1.23	4.51	3.36	0.38483	TRASH (1);	0.112824	0.56097	D	0.000021	T	0.51787	0.1695	L	0.55990	1.75	0.36623	D	0.875888	D;D	0.65815	0.995;0.995	D;D	0.70227	0.952;0.968	T	0.60944	-0.7162	10	0.87932	D	0	-7.2588	11.5467	0.50698	0.0:0.0:0.15:0.85	.	177;177	O95789;O95789-1	ZMYM6_HUMAN;.	E	177	ENSP00000362437:K177E;ENSP00000349708:K177E;ENSP00000391337:K177E	ENSP00000349708:K177E	K	-	1	0	ZMYM6	35253250	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	4.398000	0.59697	0.844000	0.35094	0.460000	0.39030	AAG		0.348	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		29	40	0	0	0	1	0	29	40				
ST6GAL2	84620	broad.mit.edu	37	2	107460390	107460390	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:107460390C>T	ENST00000409382.3	-	2	654	c.44G>A	c.(43-45)gGa>gAa	p.G15E	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G15E|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G15E	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	15					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AGCGAATATTCCGAAAAGCAT	0.517																																						ENST00000409382.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(43-45)gGa>gAa		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							52.0	59.0	57.0					2																	107460390		2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460390C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.44G>A	2.37:g.107460390C>T	ENSP00000386942:p.Gly15Glu		Somatic				ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G15E|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G15E	p.G15E	NM_001142351.1	NP_001135823.1	WXS	Illumina GAIIx	Phase_I	Q96JF0	SIAT2_HUMAN			2	654	-			15					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.44G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495269	0.26774	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087;ENST00000419159	T;T;T	0.40756	2.07;2.07;1.02	5.74	4.86	0.63082	.	0.152835	0.64402	D	0.000020	T	0.61502	0.2352	L	0.60455	1.87	0.53688	D	0.999974	D;D	0.71674	0.998;0.997	D;D	0.75484	0.986;0.967	T	0.65705	-0.6103	10	0.87932	D	0	-23.2595	16.0748	0.80962	0.0:0.8661:0.1339:0.0	.	15;15	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	E	15	ENSP00000355273:G15E;ENSP00000386942:G15E;ENSP00000387332:G15E	ENSP00000355273:G15E	G	-	2	0	ST6GAL2	106826822	0.984000	0.35163	0.165000	0.22776	0.274000	0.26718	2.651000	0.46674	1.395000	0.46643	0.655000	0.94253	GGA		0.517	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		21	46	0	0	0	1	0	21	46				
ZGRF1	55345	broad.mit.edu	37	4	113539199	113539199	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:113539199G>T	ENST00000505019.1	-	6	2124	c.1999C>A	c.(1999-2001)Caa>Aaa	p.Q667K	C4orf21_ENST00000309071.5_Missense_Mutation_p.Q667K|C4orf21_ENST00000445203.2_Missense_Mutation_p.Q636K	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		667						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.Q667K(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTGACTTCTTGAATAGGTTTA	0.313																																						ENST00000505019.1																			2	Substitution - Missense(2)	p.Q667K(2)	kidney(2)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1999-2001)Caa>Aaa		chromosome 4 open reading frame 21							89.0	93.0	91.0					4																	113539199		2202	4300	6502	SO:0001583	missense	55345							g.chr4:113539199G>T																												ENST00000505019.1:c.1999C>A	4.37:g.113539199G>T	ENSP00000424737:p.Gln667Lys		Somatic				C4orf21_ENST00000309071.5_Missense_Mutation_p.Q667K|C4orf21_ENST00000445203.2_Missense_Mutation_p.Q636K	p.Q667K	NM_018392.4	NP_060862.3	WXS	Illumina GAIIx	Phase_I	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	2124	-		Ovarian(17;0.156)	667					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.1999C>A		.	.	.	.	.	.	.	.	.	.	G	10.22	1.291374	0.23564	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.83075	-1.68;1.83;1.4	5.14	3.33	0.38152	.	2.305190	0.01565	N	0.020300	T	0.81034	0.4739	L	0.56769	1.78	0.09310	N	1	B;B	0.17465	0.022;0.007	B;B	0.14023	0.01;0.005	T	0.57106	-0.7868	10	0.11794	T	0.64	8.4652	10.3546	0.43956	0.0:0.1307:0.5991:0.2702	.	667;667	Q86YA3;G5EA02	CD021_HUMAN;.	K	667;667;636	ENSP00000424737:Q667K;ENSP00000309095:Q667K;ENSP00000390505:Q636K	ENSP00000309095:Q667K	Q	-	1	0	C4orf21	113758648	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.143000	0.16115	0.609000	0.30018	0.557000	0.71058	CAA		0.313	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			6	37	1	0	0.0293803	1	0.0297369	6	37				
DUOX1	53905	broad.mit.edu	37	15	45433252	45433252	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:45433252G>A	ENST00000321429.4	+	14	1956	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	DUOX1_ENST00000561166.1_Missense_Mutation_p.E163K|DUOX1_ENST00000389037.3_Missense_Mutation_p.E517K	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	517	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTACTGGTTTGAGAACACCAG	0.617																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(1549-1551)Gag>Aag		dual oxidase 1							106.0	101.0	102.0					15																	45433252		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45433252G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1549G>A	15.37:g.45433252G>A	ENSP00000317997:p.Glu517Lys		Somatic				DUOX1_ENST00000561166.1_Missense_Mutation_p.E163K|DUOX1_ENST00000389037.3_Missense_Mutation_p.E517K	p.E517K	NM_017434.3	NP_059130.2	WXS	Illumina GAIIx	Phase_I	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	14	1956	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	517			Peroxidase-like; mediates peroxidase activity.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.1549G>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224580	0.95139	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.72615	-0.67;-0.67	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.85826	0.5787	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88215	0.2893	10	0.62326	D	0.03	-30.1199	14.9827	0.71321	0.0:0.0:1.0:0.0	.	517	Q9NRD9	DUOX1_HUMAN	K	517	ENSP00000317997:E517K;ENSP00000373689:E517K	ENSP00000317997:E517K	E	+	1	0	DUOX1	43220544	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.407000	0.97325	2.474000	0.83562	0.650000	0.86243	GAG		0.617	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		13	170	0	0	0	1	0	13	170				
PDXP	57026	broad.mit.edu	37	22	38055358	38055358	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:38055358C>G	ENST00000215904.6	+	1	625	c.569C>G	c.(568-570)aCc>aGc	p.T190S	SH3BP1_ENST00000599616.1_Intron|Z83844.1_ENST00000456099.1_RNA	NM_020315.4	NP_064711.1	Q96GD0	PLPP_HUMAN	pyridoxal (pyridoxine, vitamin B6) phosphatase	190					actin rod assembly (GO:0031247)|cellular response to ATP (GO:0071318)|positive regulation of actin filament depolymerization (GO:0030836)|protein dephosphorylation (GO:0006470)|pyridoxal phosphate catabolic process (GO:0032361)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heat shock protein binding (GO:0031072)|magnesium ion binding (GO:0000287)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|pyridoxal phosphatase activity (GO:0033883)	p.T190S(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					GGCAGCCGGACCCCTGGTGAG	0.711																																						ENST00000215904.6																			1	Substitution - Missense(1)	p.T190S(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9						c.(568-570)aCc>aGc		pyridoxal (pyridoxine, vitamin B6) phosphatase							12.0	14.0	13.0					22																	38055358		2003	3968	5971	SO:0001583	missense	57026							g.chr22:38055358C>G	BC064922	CCDS13953.1	22q12.3	2005-08-16			ENSG00000241360	ENSG00000241360			30259	protein-coding gene	gene with protein product		609246				14522954	Standard	NM_020315		Approved	dJ37E16.5, FLJ32703		Q96GD0	OTTHUMG00000044618	ENST00000215904.6:c.569C>G	22.37:g.38055358C>G	ENSP00000215904:p.Thr190Ser		Somatic				SH3BP1_ENST00000599616.1_Intron	p.T190S	NM_020315.4	NP_064711.1	WXS	Illumina GAIIx	Phase_I					1	625	+	Melanoma(58;0.0574)							Q9UGY2	Missense_Mutation	SNP	ENST00000215904.6	37	c.569C>G	CCDS13953.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161767	0.57368	.	.	ENSG00000241360	ENST00000215904	T	0.28454	1.61	4.64	4.64	0.57946	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Nitrophenylphosphatase-like  domain (1);	.	.	.	.	T	0.22003	0.0530	N	0.17674	0.51	0.80722	D	1	P	0.47484	0.896	B	0.37731	0.257	T	0.11641	-1.0579	9	0.62326	D	0.03	-18.9083	17.6881	0.88261	0.0:1.0:0.0:0.0	.	190	Q96GD0	PLPP_HUMAN	S	190	ENSP00000215904:T190S	ENSP00000215904:T190S	T	+	2	0	PDXP	36385304	1.000000	0.71417	0.998000	0.56505	0.713000	0.41058	2.484000	0.45242	2.412000	0.81896	0.462000	0.41574	ACC		0.711	PDXP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104105.2	NM_020315		3	7	0	0	0	1	0	3	7				
KIAA1614	57710	broad.mit.edu	37	1	180904820	180904820	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:180904820A>C	ENST00000367588.4	+	5	1830	c.1775A>C	c.(1774-1776)gAa>gCa	p.E592A	KIAA1614_ENST00000367587.1_Missense_Mutation_p.E213A	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	592								p.E592A(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CTCCACATGGAATGGATCCGG	0.637																																						ENST00000367588.4																			1	Substitution - Missense(1)	p.E592A(1)	kidney(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(1774-1776)gAa>gCa		KIAA1614							20.0	23.0	22.0					1																	180904820		2092	4211	6303	SO:0001583	missense	57710							g.chr1:180904820A>C	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1775A>C	1.37:g.180904820A>C	ENSP00000356560:p.Glu592Ala		Somatic				KIAA1614_ENST00000367587.1_Missense_Mutation_p.E213A	p.E592A	NM_020950.1	NP_066001.1	WXS	Illumina GAIIx	Phase_I	Q5VZ46	K1614_HUMAN			5	1830	+			592					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.1775A>C	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	a	12.50	1.958053	0.34565	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.58060	0.87;0.36	4.96	1.27	0.21489	.	0.479841	0.21202	N	0.078447	T	0.37625	0.1010	L	0.41824	1.3	0.31212	N	0.698528	B	0.16396	0.017	B	0.20384	0.029	T	0.27773	-1.0064	9	0.36615	T	0.2	-4.7279	5.1198	0.14854	0.6857:0.1523:0.162:0.0	.	592	Q5VZ46	K1614_HUMAN	A	592;213	ENSP00000356560:E592A;ENSP00000356559:E213A	ENSP00000356559:E213A	E	+	2	0	KIAA1614	179171443	0.047000	0.20315	0.001000	0.08648	0.040000	0.13550	1.122000	0.31295	-0.039000	0.13602	-0.386000	0.06593	GAA		0.637	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		35	61	0	0	0	1	0	35	61				
SLC14A1	6563	broad.mit.edu	37	18	43314250	43314250	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr18:43314250C>T	ENST00000321925.4	+	5	585	c.353C>T	c.(352-354)gCa>gTa	p.A118V	SLC14A1_ENST00000589700.1_Missense_Mutation_p.A118V|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000591943.1_3'UTR|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000402943.2_Missense_Mutation_p.A13V|SLC14A1_ENST00000502059.2_Missense_Mutation_p.A10V|SLC14A1_ENST00000535474.1_5'UTR|SLC14A1_ENST00000586142.1_Missense_Mutation_p.A118V|SLC14A1_ENST00000436407.3_Missense_Mutation_p.A174V|SLC14A1_ENST00000415427.3_Missense_Mutation_p.A174V	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	118					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)	p.A118V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCATTAATAGCATCTGGGCTC	0.478																																						ENST00000321925.4																			1	Substitution - Missense(1)	p.A118V(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(352-354)gCa>gTa		solute carrier family 14 (urea transporter), member 1							180.0	161.0	167.0					18																	43314250		2203	4300	6503	SO:0001583	missense	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43314250C>T	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.353C>T	18.37:g.43314250C>T	ENSP00000318546:p.Ala118Val		Somatic				SLC14A1_ENST00000591943.1_3'UTR|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000535474.1_5'UTR|SLC14A1_ENST00000589700.1_Missense_Mutation_p.A118V|SLC14A1_ENST00000586142.1_Missense_Mutation_p.A118V|SLC14A1_ENST00000502059.2_Missense_Mutation_p.A10V|SLC14A1_ENST00000436407.3_Missense_Mutation_p.A174V|SLC14A1_ENST00000415427.3_Missense_Mutation_p.A174V|SLC14A1_ENST00000402943.2_Missense_Mutation_p.A13V|RP11-116O18.3_ENST00000586213.1_RNA	p.A118V	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	WXS	Illumina GAIIx	Phase_I	Q13336	UT1_HUMAN			5	585	+			118					A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	c.353C>T	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041634	0.75732	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000436407	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.46	5.46	0.80206	.	0.059906	0.64402	D	0.000003	T	0.73505	0.3595	M	0.93898	3.47	0.80722	D	1	P;P;P	0.51351	0.944;0.745;0.928	P;P;P	0.55260	0.719;0.616;0.772	T	0.80605	-0.1308	10	0.59425	D	0.04	-9.3049	19.3072	0.94167	0.0:1.0:0.0:0.0	.	174;10;118	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	V	118;174;10;13;174	ENSP00000318546:A118V;ENSP00000412309:A174V;ENSP00000442180:A10V;ENSP00000385320:A13V;ENSP00000390637:A174V	ENSP00000318546:A118V	A	+	2	0	SLC14A1	41568248	1.000000	0.71417	0.087000	0.20705	0.196000	0.23810	4.355000	0.59424	2.570000	0.86706	0.591000	0.81541	GCA		0.478	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		4	88	0	0	0	1	0	4	88				
ARMC8	25852	broad.mit.edu	37	3	137960624	137960624	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:137960624G>A	ENST00000469044.1	+	11	1108		c.e11-1		ARMC8_ENST00000491704.1_Splice_Site|ARMC8_ENST00000358441.2_Splice_Site|ARMC8_ENST00000470821.1_Splice_Site|ARMC8_ENST00000471453.1_Splice_Site|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000485396.1_Splice_Site|ARMC8_ENST00000489213.1_Splice_Site|ARMC8_ENST00000481646.1_Splice_Site|ARMC8_ENST00000393058.3_Splice_Site|ARMC8_ENST00000538260.1_Splice_Site	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8											endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CTACCTTTCAGACATTACCTT	0.368																																						ENST00000469044.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.e11-1		armadillo repeat containing 8							100.0	91.0	94.0					3																	137960624		2203	4300	6503	SO:0001630	splice_region_variant	25852						binding	g.chr3:137960624G>A		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.838-1G>A	3.37:g.137960624G>A			Somatic				ARMC8_ENST00000538260.1_Splice_Site|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Splice_Site|ARMC8_ENST00000489213.1_Splice_Site|ARMC8_ENST00000393058.3_Splice_Site|ARMC8_ENST00000358441.2_Splice_Site|ARMC8_ENST00000485396.1_Splice_Site|ARMC8_ENST00000481646.1_Splice_Site|ARMC8_ENST00000471453.1_Splice_Site|ARMC8_ENST00000470821.1_Splice_Site		NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	WXS	Illumina GAIIx	Phase_I	Q8IUR7	ARMC8_HUMAN			11	1108	+								A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Splice_Site	SNP	ENST00000469044.1	37			.	.	.	.	.	.	.	.	.	.	G	23.9	4.474660	0.84640	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000358441;ENST00000489213;ENST00000485396;ENST00000471453;ENST00000470821;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.546	0.87861	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARMC8	139443314	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.852000	0.99516	2.737000	0.93849	0.563000	0.77884	.		0.368	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396	Intron	112	144	0	0	0	1	0	112	144				
CRTC1	23373	broad.mit.edu	37	19	18876286	18876286	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:18876286C>T	ENST00000321949.8	+	9	985	c.959C>T	c.(958-960)gCa>gTa	p.A320V	CRTC1_ENST00000594658.1_Missense_Mutation_p.A279V|CRTC1_ENST00000338797.6_Missense_Mutation_p.A336V|CRTC1_ENST00000601916.1_Missense_Mutation_p.A245V	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						AGCACAGAGGCAAGGCGTCAG	0.657																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(1006-1008)gCa>gTa		CREB regulated transcription coactivator 1							91.0	85.0	87.0					19																	18876286		2203	4300	6503	SO:0001583	missense	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18876286C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.959C>T	19.37:g.18876286C>T	ENSP00000323332:p.Ala320Val		Somatic				CRTC1_ENST00000321949.8_Missense_Mutation_p.A320V|CRTC1_ENST00000601916.1_Missense_Mutation_p.A245V|CRTC1_ENST00000594658.1_Missense_Mutation_p.A279V	p.A336V	NM_001098482.1	NP_001091952.1	WXS	Illumina GAIIx	Phase_I	Q6UUV9	CRTC1_HUMAN			10	1032	+			320			Ser-rich.			Missense_Mutation	SNP	ENST00000321949.8	37	c.1007C>T	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643723	0.29246	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.11712	2.75;2.76	4.38	4.38	0.52667	.	1.218230	0.05628	N	0.581203	T	0.11495	0.0280	L	0.27053	0.805	0.09310	N	0.999992	B;B;B	0.15141	0.012;0.002;0.002	B;B;B	0.11329	0.006;0.004;0.003	T	0.30327	-0.9982	10	0.23891	T	0.37	-6.1689	15.8646	0.79055	0.0:1.0:0.0:0.0	.	320;336;320	Q6UUV9-3;Q6UUV9-2;Q6UUV9	.;.;CRTC1_HUMAN	V	320;336;320	ENSP00000345001:A336V;ENSP00000323332:A320V	ENSP00000262813:A320V	A	+	2	0	CRTC1	18737286	0.000000	0.05858	0.238000	0.24106	0.808000	0.45660	0.783000	0.26802	2.159000	0.67721	0.561000	0.74099	GCA		0.657	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		15	101	0	0	0	1	0	15	101				
RASSF8	11228	broad.mit.edu	37	12	26220645	26220645	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:26220645G>A	ENST00000405154.2	+	4	1336	c.1137G>A	c.(1135-1137)agG>agA	p.R379R	RASSF8_ENST00000282884.9_Splice_Site_p.R379R|RASSF8_ENST00000542865.1_Splice_Site_p.R379R|RASSF8_ENST00000541490.1_Splice_Site_p.R379R|RASSF8_ENST00000381352.3_Splice_Site_p.R379R	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	379					signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					ACATTGAAAGGGGTAAGATGT	0.403																																						ENST00000405154.2																			0				cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25						c.e4+1		Ras association (RalGDS/AF-6) domain family (N-terminal) member 8							113.0	110.0	111.0					12																	26220645		2203	4300	6503	SO:0001630	splice_region_variant	11228				signal transduction			g.chr12:26220645G>A	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.1138+1G>A	12.37:g.26220645G>A			Somatic				RASSF8_ENST00000541490.1_Splice_Site_p.R379_splice|RASSF8_ENST00000282884.9_Splice_Site_p.R379_splice|RASSF8_ENST00000381352.3_Splice_Site_p.R379_splice|RASSF8_ENST00000542865.1_Splice_Site_p.R379_splice	p.R379_splice	NM_001164748.1	NP_001158220.1	WXS	Illumina GAIIx	Phase_I	Q8NHQ8	RASF8_HUMAN			4	1336	+	Colorectal(261;0.0847)		379					A8K1Z0|O95647|Q5SCI2|Q76KB6	Splice_Site	SNP	ENST00000405154.2	37	c.1138_splice	CCDS53765.1																																																																																				0.403	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211	Silent	9	263	0	0	0	1	0	9	263				
UBE3C	9690	broad.mit.edu	37	7	157000395	157000395	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:157000395A>T	ENST00000348165.5	+	13	1936		c.e13-1			NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C						protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGTGTTTTTTAGTTGTAGGTC	0.348																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.e13-1		ubiquitin protein ligase E3C							77.0	77.0	77.0					7																	157000395		2203	4300	6503	SO:0001630	splice_region_variant	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157000395A>T	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1577-1A>T	7.37:g.157000395A>T			Somatic						NM_014671.2	NP_055486.2	WXS	Illumina GAIIx	Phase_I	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	13	1936	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)						A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Splice_Site	SNP	ENST00000348165.5	37		CCDS34789.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.256388	0.22965	.	.	ENSG00000009335	ENST00000348165	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.99996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5851	0.39512	0.7294:0.0:0.0:0.2706	.	.	.	.	.	-1	.	.	.	+	.	.	UBE3C	156693156	1.000000	0.71417	0.949000	0.38748	0.423000	0.31445	4.676000	0.61627	1.986000	0.57962	0.533000	0.62120	.		0.348	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	Intron	7	244	0	0	0	1	0	7	244				
DSEL	92126	broad.mit.edu	37	18	65179106	65179106	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr18:65179106C>T	ENST00000310045.7	-	2	4243	c.2770G>A	c.(2770-2772)Ggg>Agg	p.G924R	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	914					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CGAAAATGCCCACTGCGGATA	0.433																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2770-2772)Ggg>Agg		dermatan sulfate epimerase-like							76.0	77.0	77.0					18																	65179106		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179106C>T	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2770G>A	18.37:g.65179106C>T	ENSP00000310565:p.Gly924Arg		Somatic				CTD-2541J13.2_ENST00000583493.1_RNA	p.G924R	NM_032160.2	NP_115536.1	WXS	Illumina GAIIx	Phase_I	Q8IZU8	DSEL_HUMAN			2	4243	-		Esophageal squamous(42;0.129)	914					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.2770G>A	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677083	0.88445	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.22134	1.97	5.13	3.33	0.38152	Sulfotransferase domain (1);	0.125706	0.52532	U	0.000067	T	0.38348	0.1037	M	0.68952	2.095	0.46823	D	0.999211	P	0.39022	0.655	P	0.55455	0.776	T	0.08994	-1.0695	10	0.62326	D	0.03	0.0681	9.8908	0.41290	0.1392:0.7883:0.0:0.0725	.	914	Q8IZU8	DSEL_HUMAN	R	924;914	ENSP00000310565:G924R	ENSP00000310565:G924R	G	-	1	0	DSEL	63330086	0.961000	0.32948	0.185000	0.23176	0.986000	0.74619	3.994000	0.56994	0.543000	0.28864	0.563000	0.77884	GGG		0.433	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		8	84	0	0	0	1	0	8	84				
TRAPPC10	7109	broad.mit.edu	37	21	45502732	45502732	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr21:45502732C>A	ENST00000291574.4	+	14	1962	c.1787C>A	c.(1786-1788)tCc>tAc	p.S596Y		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	596					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TTTGATCCCTCCAATGCCGTG	0.493																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(1786-1788)tCc>tAc		trafficking protein particle complex 10							187.0	160.0	169.0					21																	45502732		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45502732C>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.1787C>A	21.37:g.45502732C>A	ENSP00000291574:p.Ser596Tyr		Somatic					p.S596Y	NM_003274.4	NP_003265.3	WXS	Illumina GAIIx	Phase_I	P48553	TPC10_HUMAN			14	1962	+			596					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.1787C>A	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727873	0.48833	.	.	ENSG00000160218	ENST00000291574	T	0.46451	0.87	5.58	3.76	0.43208	.	0.569181	0.19891	N	0.103738	T	0.22781	0.0550	N	0.08118	0	0.09310	N	1	P	0.40875	0.731	B	0.37198	0.243	T	0.06127	-1.0844	10	0.56958	D	0.05	.	10.796	0.46461	0.0:0.7962:0.1322:0.0716	.	596	P48553	TPC10_HUMAN	Y	596	ENSP00000291574:S596Y	ENSP00000291574:S596Y	S	+	2	0	TRAPPC10	44327160	0.463000	0.25799	0.002000	0.10522	0.908000	0.53690	5.395000	0.66291	0.706000	0.31912	-0.175000	0.13238	TCC		0.493	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		5	591	1	0	0.014758	1	0.01501	5	591				
TBC1D8B	54885	broad.mit.edu	37	X	106109045	106109045	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chrX:106109045A>T	ENST00000357242.5	+	16	2618	c.2444A>T	c.(2443-2445)tAt>tTt	p.Y815F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y809F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	815							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTATCTTGTTATTGGTGTTTG	0.343																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2443-2445)tAt>tTt		TBC1 domain family, member 8B (with GRAM domain)							128.0	118.0	121.0					X																	106109045		2203	4300	6503	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106109045A>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2444A>T	X.37:g.106109045A>T	ENSP00000349781:p.Tyr815Phe		Somatic				TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y809F	p.Y815F	NM_017752.2	NP_060222.2	WXS	Illumina GAIIx	Phase_I	Q0IIM8	TBC8B_HUMAN			16	2618	+			815					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2444A>T	CCDS14522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.420514|4.420514	0.83559|0.83559	.|.	.|.	ENSG00000133138|ENSG00000133138	ENST00000431860|ENST00000357242;ENST00000276175;ENST00000394972	.|T;T	.|0.59364	.|0.27;0.27	5.59|5.59	5.59|5.59	0.84812|0.84812	.|EF-hand-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76076|0.76076	0.3937|0.3937	M|M	0.83483|0.83483	2.645|2.645	0.53005|0.53005	D|D	0.999963|0.999963	.|D	.|0.71674	.|0.998	.|D	.|0.77004	.|0.989	T|T	0.76528|0.76528	-0.2926|-0.2926	5|10	.|0.33141	.|T	.|0.24	-5.6795|-5.6795	13.501|13.501	0.61454|0.61454	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|815	.|Q0IIM8	.|TBC8B_HUMAN	F|F	77|815;809;77	.|ENSP00000349781:Y815F;ENSP00000276175:Y809F	.|ENSP00000276175:Y809F	L|Y	+|+	3|2	2|0	TBC1D8B|TBC1D8B	105995701|105995701	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	8.962000|8.962000	0.93254|0.93254	1.868000|1.868000	0.54150|0.54150	0.412000|0.412000	0.27726|0.27726	TTA|TAT		0.343	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		7	179	0	0	0	1	0	7	179				
ALG10B	144245	broad.mit.edu	37	12	38714245	38714245	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:38714245G>A	ENST00000308742.4	+	3	968	c.652G>A	c.(652-654)Gac>Aac	p.D218N	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	218					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AAAGAAGGAAGACAGACTTCC	0.378																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(652-654)Gac>Aac		ALG10B, alpha-1,2-glucosyltransferase							107.0	111.0	110.0					12																	38714245		2203	4298	6501	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714245G>A	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.652G>A	12.37:g.38714245G>A	ENSP00000310120:p.Asp218Asn		Somatic				ALG10B_ENST00000551464.1_Intron	p.D218N	NM_001013620.3	NP_001013642.1	WXS	Illumina GAIIx	Phase_I	Q5I7T1	AG10B_HUMAN			3	968	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	218					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.652G>A	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	N	5.583	0.292315	0.10567	.	.	ENSG00000175548	ENST00000308742	T	0.54479	0.57	3.24	2.35	0.29111	.	0.149328	0.64402	D	0.000014	T	0.30823	0.0777	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06320	-1.0833	10	0.11485	T	0.65	.	8.8874	0.35411	0.1158:0.0:0.8841:0.0	.	218	Q5I7T1	AG10B_HUMAN	N	218	ENSP00000310120:D218N	ENSP00000310120:D218N	D	+	1	0	ALG10B	37000512	1.000000	0.71417	0.054000	0.19295	0.150000	0.21749	4.482000	0.60257	0.939000	0.37446	-0.272000	0.10252	GAC		0.378	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		4	181	0	0	0	1	0	4	181				
AGAP2	116986	broad.mit.edu	37	12	58124279	58124279	+	Splice_Site	SNP	C	C	T	rs546178093		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:58124279C>T	ENST00000547588.1	-	12	2426	c.2427G>A	c.(2425-2427)acG>acA	p.T809T	AGAP2_ENST00000257897.3_Splice_Site_p.T473T	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	809	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.T809T(1)|p.T473T(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCCACTGACCCGTGCTGAGGG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		19718	0.0		0.001	False		,,,				2504	0.0					ENST00000257897.3																			2	Substitution - coding silent(2)	p.T809T(1)|p.T473T(1)	lung(2)	breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.e12+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							234.0	239.0	237.0					12																	58124279		2203	4300	6503	SO:0001630	splice_region_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58124279C>T	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2428+1G>A	12.37:g.58124279C>T			Somatic				AGAP2_ENST00000547588.1_Splice_Site_p.T809_splice	p.T473_splice	NM_014770.3	NP_055585.1	WXS	Illumina GAIIx	Phase_I	Q99490	AGAP2_HUMAN			12	1504	-			809			G domain.		A8K9F7|O00578|Q548E0|Q8IWU3	Splice_Site	SNP	ENST00000547588.1	37	c.1420_splice	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	C	2.477	-0.320551	0.05386	.	.	ENSG00000135439	ENST00000328568	.	.	.	4.72	-5.17	0.02849	.	.	.	.	.	T	0.35248	0.0925	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33497	-0.9866	4	.	.	.	.	0.9277	0.01328	0.193:0.2488:0.3134:0.2448	.	.	.	.	R	673	.	.	G	-	1	0	AGAP2	56410546	0.322000	0.24634	0.855000	0.33649	0.656000	0.38851	-1.356000	0.02609	-1.480000	0.01865	-2.560000	0.00174	GGA		0.562	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770	Silent	6	740	0	0	0	1	0	6	740				
N4BP2	55728	broad.mit.edu	37	4	40123371	40123371	+	Missense_Mutation	SNP	C	C	T	rs369443725		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:40123371C>T	ENST00000261435.6	+	9	4056	c.3640C>T	c.(3640-3642)Cat>Tat	p.H1214Y		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1214					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCCTGAAAACCATGAATCGAT	0.418																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(3640-3642)Cat>Tat		NEDD4 binding protein 2		C	TYR/HIS	0,4406		0,0,2203	74.0	73.0	74.0		3640	0.1	0.0	4		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	N4BP2	NM_018177.4	83	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1214/1771	40123371	1,13005	2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40123371C>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3640C>T	4.37:g.40123371C>T	ENSP00000261435:p.His1214Tyr		Somatic					p.H1214Y	NM_018177.4	NP_060647.2	WXS	Illumina GAIIx	Phase_I	Q86UW6	N4BP2_HUMAN			9	4056	+			1214					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.3640C>T	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.200|3.200	-0.163923|-0.163923	0.06502|0.06502	0.0|0.0	1.16E-4|1.16E-4	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.17213|.	2.29|.	5.6|5.6	0.073|0.073	0.14389|0.14389	.|.	1.176710|.	0.06286|.	N|.	0.698344|.	T|T	0.22205|0.22205	0.0535|0.0535	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B|.	0.32717|.	0.381;0.263|.	B;B|.	0.27887|.	0.084;0.038|.	T|T	0.26744|0.26744	-1.0094|-1.0094	10|5	0.59425|.	D|.	0.04|.	0.1539|0.1539	5.4914|5.4914	0.16779|0.16779	0.0:0.4964:0.1433:0.3603|0.0:0.4964:0.1433:0.3603	.|.	1214;1214|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	Y|L	1214;1134|860	ENSP00000261435:H1214Y|.	ENSP00000261435:H1214Y|.	H|P	+|+	1|2	0|0	N4BP2|N4BP2	39799766|39799766	0.961000|0.961000	0.32948|0.32948	0.000000|0.000000	0.03702|0.03702	0.037000|0.037000	0.13140|0.13140	0.000000|0.000000	0.12993|0.12993	0.034000|0.034000	0.15491|0.15491	0.563000|0.563000	0.77884|0.77884	CAT|CCA		0.418	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		5	105	0	0	0	1	0	5	105				
C5orf42	65250	broad.mit.edu	37	5	37168957	37168957	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:37168957A>T	ENST00000508244.1	-	33	7262	c.7169T>A	c.(7168-7170)aTa>aAa	p.I2390K	C5orf42_ENST00000274258.7_Missense_Mutation_p.I1270K|C5orf42_ENST00000425232.2_Missense_Mutation_p.I2390K			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2390						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCTTCTGCTATAGGTTGGAT	0.373																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(3808-3810)aTa>aAa		chromosome 5 open reading frame 42							191.0	191.0	191.0					5																	37168957		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37168957A>T		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7169T>A	5.37:g.37168957A>T	ENSP00000421690:p.Ile2390Lys		Somatic				C5orf42_ENST00000508244.1_Missense_Mutation_p.I2390K|C5orf42_ENST00000425232.2_Missense_Mutation_p.I2390K	p.I1270K			WXS	Illumina GAIIx	Phase_I	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		34	7396	-	all_lung(31;0.000616)		2390					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.3809T>A	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	A	12.89	2.074934	0.36566	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.22134	1.97;1.97;1.98;1.97	4.52	-1.53	0.08611	.	1.540460	0.03896	N	0.279478	T	0.08268	0.0206	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.18304	-1.0341	10	0.05436	T	0.98	.	0.6941	0.00896	0.4211:0.1203:0.237:0.2216	.	2390;1270	E9PH94;Q9H799	.;CE042_HUMAN	K	2390;2390;1270;1438;1270	ENSP00000421690:I2390K;ENSP00000389014:I2390K;ENSP00000274258:I1270K;ENSP00000424223:I1438K	ENSP00000274258:I1270K	I	-	2	0	C5orf42	37204714	0.000000	0.05858	0.002000	0.10522	0.227000	0.25037	-1.167000	0.03126	-0.080000	0.12685	-0.269000	0.10298	ATA		0.373	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		5	213	0	0	0	1	0	5	213				
TAF1L	138474	broad.mit.edu	37	9	32634384	32634384	+	Silent	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:32634384A>G	ENST00000242310.4	-	1	1283	c.1194T>C	c.(1192-1194)tcT>tcC	p.S398S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	398					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCATCATTCTAGATTTTATCA	0.453																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1192-1194)tcT>tcC		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							219.0	211.0	214.0					9																	32634384		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634384A>G	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1194T>C	9.37:g.32634384A>G			Somatic				RP11-555J4.4_ENST00000430787.1_RNA	p.S398S	NM_153809.2	NP_722516.1	WXS	Illumina GAIIx	Phase_I	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1283	-			398					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.1194T>C	CCDS35003.1																																																																																				0.453	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			4	380	0	0	0	1	0	4	380				
EEF1E1	9521	broad.mit.edu	37	6	8080190	8080190	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:8080190G>A	ENST00000379715.5	-	4	514	c.458C>T	c.(457-459)cCa>cTa	p.P153L	EEF1E1-BLOC1S5_ENST00000397456.2_Intron|EEF1E1_ENST00000429723.2_Intron	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	153	GST C-terminal.				gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					CCTGATGCCTGGATAATGCTG	0.378																																						ENST00000379715.5																			0				endometrium(1)|prostate(1)	2						c.(457-459)cCa>cTa		eukaryotic translation elongation factor 1 epsilon 1							151.0	126.0	134.0					6																	8080190		2203	4300	6503	SO:0001583	missense	9521				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus		g.chr6:8080190G>A	AF054186	CCDS4507.1, CCDS47370.1	6p24.3	2009-05-20			ENSG00000124802	ENSG00000124802			3212	protein-coding gene	gene with protein product	"""aminoacyl tRNA synthetase complex-interacting multifunctional protein 3"""	609206		P18		9653160	Standard	NM_004280		Approved	AIMP3	uc003mxz.3	O43324	OTTHUMG00000014221	ENST00000379715.5:c.458C>T	6.37:g.8080190G>A	ENSP00000369038:p.Pro153Leu		Somatic				EEF1E1-MUTED_ENST00000397456.2_Intron|EEF1E1_ENST00000429723.2_Intron	p.P153L	NM_004280.4	NP_004271.1	WXS	Illumina GAIIx	Phase_I	O43324	MCA3_HUMAN			4	514	-	Ovarian(93;0.0398)		153			GST C-terminal.		C9JLK5|Q5THS2	Missense_Mutation	SNP	ENST00000379715.5	37	c.458C>T	CCDS4507.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135281	0.77662	.	.	ENSG00000124802	ENST00000379715	.	.	.	5.32	5.32	0.75619	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.050341	0.85682	D	0.000000	T	0.81833	0.4906	M	0.90082	3.085	0.80722	D	1	D	0.65815	0.995	P	0.60789	0.879	D	0.84623	0.0685	8	.	.	.	-13.6578	19.3933	0.94594	0.0:0.0:1.0:0.0	.	153	O43324	MCA3_HUMAN	L	153	.	.	P	-	2	0	EEF1E1	8025189	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.096000	0.89537	2.648000	0.89879	0.650000	0.86243	CCA		0.378	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039799.2	NM_004280		5	116	0	0	0	1	0	5	116				
COL6A6	131873	broad.mit.edu	37	3	130287215	130287215	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:130287215G>A	ENST00000358511.6	+	5	2199	c.2168G>A	c.(2167-2169)aGa>aAa	p.R723K	COL6A6_ENST00000453409.2_Missense_Mutation_p.R723K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	723	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCCAACATCAGAAAGTTTCTC	0.512																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2167-2169)aGa>aAa		collagen, type VI, alpha 6							85.0	88.0	87.0					3																	130287215		1937	4127	6064	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130287215G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2168G>A	3.37:g.130287215G>A	ENSP00000351310:p.Arg723Lys		Somatic				COL6A6_ENST00000453409.2_Missense_Mutation_p.R723K	p.R723K	NM_001102608.1	NP_001096078.1	WXS	Illumina GAIIx	Phase_I	A6NMZ7	CO6A6_HUMAN			5	2199	+			723			Nonhelical region.|VWFA 4.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2168G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	3.575	-0.086754	0.07097	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.82803	-1.65;-1.65	5.51	3.71	0.42584	von Willebrand factor, type A (3);	0.092162	0.47455	D	0.000223	T	0.59252	0.2180	N	0.05259	-0.085	0.25123	N	0.990626	B	0.18461	0.028	B	0.20767	0.031	T	0.48468	-0.9033	10	0.02654	T	1	.	7.9209	0.29846	0.273:0.0:0.727:0.0	.	723	A6NMZ7	CO6A6_HUMAN	K	723	ENSP00000351310:R723K;ENSP00000399236:R723K	ENSP00000351310:R723K	R	+	2	0	COL6A6	131769905	0.992000	0.36948	1.000000	0.80357	0.674000	0.39518	0.710000	0.25748	1.327000	0.45338	0.655000	0.94253	AGA		0.512	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		24	162	0	0	0	1	0	24	162				
RNF17	56163	broad.mit.edu	37	13	25367255	25367255	+	Silent	SNP	C	C	T	rs141654694		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr13:25367255C>T	ENST00000255324.5	+	10	1063	c.1011C>T	c.(1009-1011)taC>taT	p.Y337Y	RNF17_ENST00000381921.1_Silent_p.Y337Y|RNF17_ENST00000255325.6_Silent_p.Y337Y|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	337					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Y337Y(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTCTTGTTACGATACATACC	0.348																																						ENST00000255324.5																			2	Substitution - coding silent(2)	p.Y337Y(2)	breast(2)	NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(1009-1011)taC>taT		ring finger protein 17		C	,	0,4406		0,0,2203	131.0	128.0	129.0		1011,1011	3.9	0.0	13	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RNF17	NM_001184993.1,NM_031277.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	337/1620,337/1624	25367255	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25367255C>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1011C>T	13.37:g.25367255C>T			Somatic				RNF17_ENST00000255325.5_Silent_p.Y338Y|RNF17_ENST00000381921.1_Silent_p.Y337Y|RNF17_ENST00000255326.4_3'UTR	p.Y337Y	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	WXS	Illumina GAIIx	Phase_I	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	10	1063	+		Lung SC(185;0.0225)|Breast(139;0.077)	337					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.1011C>T	CCDS9308.2																																																																																				0.348	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		5	320	0	0	0	1	0	5	320				
VPS35	55737	broad.mit.edu	37	16	46705623	46705623	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:46705623C>T	ENST00000299138.7	-	12	1576	c.1518G>A	c.(1516-1518)caG>caA	p.Q506Q	VPS35_ENST00000568642.1_5'Flank	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	506					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATACCAAGTACTGCTGGTCAG	0.448																																						ENST00000299138.7																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(1516-1518)caG>caA		vacuolar protein sorting 35 homolog (S. cerevisiae)							55.0	50.0	52.0					16																	46705623		2203	4300	6503	SO:0001819	synonymous_variant	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46705623C>T	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.1518G>A	16.37:g.46705623C>T			Somatic					p.Q506Q	NM_018206.4	NP_060676.2	WXS	Illumina GAIIx	Phase_I	Q96QK1	VPS35_HUMAN			12	1576	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	506					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Silent	SNP	ENST00000299138.7	37	c.1518G>A	CCDS10721.1																																																																																				0.448	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			8	109	0	0	0	1	0	8	109				
FBXO38	81545	broad.mit.edu	37	5	147788696	147788696	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:147788696G>A	ENST00000340253.5	+	8	1046	c.878G>A	c.(877-879)aGa>aAa	p.R293K	FBXO38_ENST00000513826.1_Missense_Mutation_p.R293K|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000394370.3_Missense_Mutation_p.R293K|FBXO38_ENST00000296701.6_Missense_Mutation_p.R293K			Q6PIJ6	FBX38_HUMAN	F-box protein 38	293					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTTTTAGAAATTTGCAC	0.348																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(877-879)aGa>aAa		F-box protein 38							228.0	223.0	225.0					5																	147788696		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147788696G>A	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.878G>A	5.37:g.147788696G>A	ENSP00000342023:p.Arg293Lys		Somatic				FBXO38_ENST00000394370.3_Missense_Mutation_p.R293K|FBXO38_ENST00000513826.1_Missense_Mutation_p.R293K|FBXO38_ENST00000296701.6_Missense_Mutation_p.R293K|FBXO38_ENST00000509699.2_3'UTR	p.R293K			WXS	Illumina GAIIx	Phase_I	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	1046	+			293					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.878G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.149338	0.94645	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.16897	2.31;5.58;2.31;5.58	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.32852	0.0843	L	0.34521	1.04	0.58432	D	0.999999	D;D;D	0.67145	0.996;0.996;0.99	D;D;D	0.76071	0.987;0.987;0.98	T	0.04915	-1.0918	10	0.87932	D	0	-13.4034	17.559	0.87901	0.0:0.0:1.0:0.0	.	293;293;293	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	K	293	ENSP00000342023:R293K;ENSP00000296701:R293K;ENSP00000377895:R293K;ENSP00000426410:R293K	ENSP00000296701:R293K	R	+	2	0	FBXO38	147768889	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.476000	0.97823	2.557000	0.86248	0.491000	0.48974	AGA		0.348	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		9	363	0	0	0	1	0	9	363				
CCDC132	55610	broad.mit.edu	37	7	92987688	92987688	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:92987688T>A	ENST00000305866.5	+	28	2963	c.2835T>A	c.(2833-2835)aaT>aaA	p.N945K	CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.N665K|CCDC132_ENST00000544910.1_Missense_Mutation_p.N915K	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	945						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CCCATATCAATAAGAAAGCAA	0.388																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(2743-2745)aaT>aaA		coiled-coil domain containing 132							142.0	132.0	135.0					7																	92987688		1840	4091	5931	SO:0001583	missense	55610							g.chr7:92987688T>A	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2835T>A	7.37:g.92987688T>A	ENSP00000307666:p.Asn945Lys		Somatic				CCDC132_ENST00000535481.1_Missense_Mutation_p.N665K|CCDC132_ENST00000305866.5_Missense_Mutation_p.N945K|CCDC132_ENST00000541136.1_3'UTR	p.N915K	NM_001257998.1	NP_001244927.1	WXS	Illumina GAIIx	Phase_I	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		29	2965	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		945					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.2745T>A	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.011070	0.75046	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000535481	.	.	.	5.42	1.41	0.22369	Protein of unknown function DUF2451, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51500	0.1678	N	0.20328	0.56	0.80722	D	1	D;D;D	0.62365	0.991;0.989;0.991	D;D;D	0.76575	0.988;0.979;0.988	T	0.51204	-0.8735	9	0.72032	D	0.01	-27.4563	6.9202	0.24383	0.0:0.4129:0.0:0.587	.	665;915;945	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	K	945;915;665	.	ENSP00000307666:N945K	N	+	3	2	CCDC132	92825624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.010000	0.40913	0.450000	0.26774	0.529000	0.55759	AAT		0.388	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		5	171	0	0	0	1	0	5	171				
HMCN1	83872	broad.mit.edu	37	1	186086589	186086589	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:186086589A>T	ENST00000271588.4	+	77	11912		c.e77-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGTTGTTTTAGTTCCACCTT	0.403																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e77-1		hemicentin 1							70.0	69.0	70.0					1																	186086589		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186086589A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11684-1A>T	1.37:g.186086589A>T			Somatic				HMCN1_ENST00000367492.2_Splice_Site		NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			77	11912	+								A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37		CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.669800	0.88348	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8909	0.79296	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184353212	1.000000	0.71417	0.969000	0.41365	0.967000	0.64934	9.339000	0.96797	2.146000	0.66826	0.533000	0.62120	.		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Intron	5	120	0	0	0	1	0	5	120				
NUAK2	81788	broad.mit.edu	37	1	205272959	205272959	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:205272959G>A	ENST00000367157.3	-	7	1632	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CATTGAGTTTGAGGATGCCTT	0.642																																						ENST00000367157.3																			0				breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(1504-1506)ctC>ctT		NUAK family, SNF1-like kinase, 2							50.0	54.0	53.0					1																	205272959		2203	4300	6503	SO:0001819	synonymous_variant	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205272959G>A	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1506C>T	1.37:g.205272959G>A			Somatic					p.L502L	NM_030952.1	NP_112214.1	WXS	Illumina GAIIx	Phase_I	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		7	1632	-	Breast(84;0.186)		502						Silent	SNP	ENST00000367157.3	37	c.1506C>T	CCDS1453.1																																																																																				0.642	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		7	72	0	0	0	1	0	7	72				
ARMC8	25852	broad.mit.edu	37	3	137960639	137960639	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:137960639G>A	ENST00000469044.1	+	11	1123	c.852G>A	c.(850-852)ttG>ttA	p.L284L	ARMC8_ENST00000491704.1_Silent_p.L242L|ARMC8_ENST00000358441.2_Silent_p.L270L|ARMC8_ENST00000470821.1_Silent_p.L284L|ARMC8_ENST00000471453.1_Silent_p.L270L|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000485396.1_Silent_p.L211L|ARMC8_ENST00000489213.1_Silent_p.L242L|ARMC8_ENST00000481646.1_Silent_p.L270L|ARMC8_ENST00000393058.3_Silent_p.L274L|ARMC8_ENST00000538260.1_Silent_p.L253L	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	284								p.L270F(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TACCTTGTTTGGTTCGAATGT	0.378																																						ENST00000469044.1																			2	Substitution - Missense(2)	p.L270F(2)	lung(2)	endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.(850-852)ttG>ttA		armadillo repeat containing 8							117.0	106.0	110.0					3																	137960639		2203	4300	6503	SO:0001819	synonymous_variant	25852						binding	g.chr3:137960639G>A		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.852G>A	3.37:g.137960639G>A			Somatic				ARMC8_ENST00000538260.1_Silent_p.L253L|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Silent_p.L242L|ARMC8_ENST00000489213.1_Silent_p.L242L|ARMC8_ENST00000393058.3_Silent_p.L274L|ARMC8_ENST00000358441.2_Silent_p.L270L|ARMC8_ENST00000485396.1_Silent_p.L211L|ARMC8_ENST00000481646.1_Silent_p.L270L|ARMC8_ENST00000471453.1_Silent_p.L270L|ARMC8_ENST00000470821.1_Silent_p.L284L	p.L284L	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	WXS	Illumina GAIIx	Phase_I	Q8IUR7	ARMC8_HUMAN			11	1123	+			284					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Silent	SNP	ENST00000469044.1	37	c.852G>A																																																																																					0.378	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		178	178	0	0	0	1	0	178	178				
SHOC2	8036	broad.mit.edu	37	10	112724542	112724542	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:112724542G>A	ENST00000369452.4	+	2	771	c.426G>A	c.(424-426)gtG>gtA	p.V142V	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Silent_p.V142V	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	142					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CAGCAGAGGTGGGATGTTTAG	0.383																																						ENST00000369452.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17						c.(424-426)gtG>gtA		soc-2 suppressor of clear homolog (C. elegans)							77.0	79.0	79.0					10																	112724542		2203	4300	6503	SO:0001819	synonymous_variant	8036				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	g.chr10:112724542G>A	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.426G>A	10.37:g.112724542G>A			Somatic				SHOC2_ENST00000265277.5_Silent_p.V142V|SHOC2_ENST00000489390.1_Intron	p.V142V	NM_007373.3	NP_031399.2	WXS	Illumina GAIIx	Phase_I	Q9UQ13	SHOC2_HUMAN		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	2	771	+			142					A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Silent	SNP	ENST00000369452.4	37	c.426G>A	CCDS7568.1																																																																																				0.383	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373		4	116	0	0	0	1	0	4	116				
TONSL	4796	broad.mit.edu	37	8	145666428	145666428	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:145666428A>T	ENST00000409379.3	-	8	961	c.932T>A	c.(931-933)aTg>aAg	p.M311K	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	311					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.M311K(1)|p.M152K(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						ACAGATGACCATGGCACCCTG	0.637																																						ENST00000409379.3																			2	Substitution - Missense(2)	p.M311K(1)|p.M152K(1)	kidney(2)	biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(931-933)aTg>aAg		tonsoku-like, DNA repair protein							92.0	87.0	89.0					8																	145666428		2203	4300	6503	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145666428A>T		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.932T>A	8.37:g.145666428A>T	ENSP00000386239:p.Met311Lys		Somatic					p.M311K	NM_013432.4	NP_038460.4	WXS	Illumina GAIIx	Phase_I	Q96HA7	TONSL_HUMAN			8	961	-			311					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.932T>A	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	A	6.912	0.537951	0.13188	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.75589	-0.95	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.293777	0.38720	N	0.001594	T	0.69878	0.3160	L	0.56769	1.78	0.43953	D	0.996627	P	0.38335	0.627	B	0.35114	0.196	T	0.72757	-0.4197	10	0.51188	T	0.08	-17.2256	13.4696	0.61276	1.0:0.0:0.0:0.0	.	311	Q96HA7	TONSL_HUMAN	K	311	ENSP00000386239:M311K	ENSP00000386239:M311K	M	-	2	0	TONSL	145637236	1.000000	0.71417	0.998000	0.56505	0.020000	0.10135	8.316000	0.89985	2.077000	0.62373	0.459000	0.35465	ATG		0.637	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		5	9	0	0	0	1	0	5	9				
OR9Q1	219956	broad.mit.edu	37	11	57947012	57947012	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:57947012A>T	ENST00000335397.3	+	3	412	c.96A>T	c.(94-96)ttA>ttT	p.L32F		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCTTGTTTTTATTTATGTATC	0.448																																						ENST00000335397.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(94-96)ttA>ttT		olfactory receptor, family 9, subfamily Q, member 1							209.0	198.0	202.0					11																	57947012		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947012A>T	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.96A>T	11.37:g.57947012A>T	ENSP00000334934:p.Leu32Phe		Somatic					p.L32F	NM_001005212.3	NP_001005212.1	WXS	Illumina GAIIx	Phase_I	Q8NGQ5	OR9Q1_HUMAN			3	412	+		Breast(21;0.222)	32					Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.96A>T	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.422402	0.25639	.	.	ENSG00000186509	ENST00000335397	T	0.01804	4.63	4.75	-9.5	0.00584	.	0.000000	0.35555	N	0.003126	T	0.04815	0.0130	M	0.77820	2.39	0.18873	N	0.999987	D	0.71674	0.998	D	0.63113	0.911	T	0.18023	-1.0350	10	0.54805	T	0.06	-3.2934	7.7301	0.28781	0.1236:0.1588:0.5605:0.1571	.	32	Q8NGQ5	OR9Q1_HUMAN	F	32	ENSP00000334934:L32F	ENSP00000334934:L32F	L	+	3	2	OR9Q1	57703588	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	-4.246000	0.00267	-3.550000	0.00142	-0.376000	0.06991	TTA		0.448	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		10	416	0	0	0	1	0	10	416				
CD163	9332	broad.mit.edu	37	12	7651778	7651778	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:7651778G>A	ENST00000359156.4	-	4	666	c.464C>T	c.(463-465)tCc>tTc	p.S155F	CD163_ENST00000396620.3_Missense_Mutation_p.S155F|CD163_ENST00000432237.2_Missense_Mutation_p.S155F|CD163_ENST00000541972.1_Missense_Mutation_p.S143F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	155					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TTCCAAATTGGATCCATCTGG	0.408																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(463-465)tCc>tTc		CD163 molecule							135.0	134.0	134.0					12																	7651778		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7651778G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.464C>T	12.37:g.7651778G>A	ENSP00000352071:p.Ser155Phe		Somatic				CD163_ENST00000432237.2_Missense_Mutation_p.S155F|CD163_ENST00000396620.3_Missense_Mutation_p.S155F|CD163_ENST00000541972.1_Missense_Mutation_p.S143F	p.S155F	NM_004244.5	NP_004235.4	WXS	Illumina GAIIx	Phase_I	Q86VB7	C163A_HUMAN			4	666	-			155					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.464C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714950	0.30413	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01347	4.99;4.99;5.0;5.0	4.96	4.0	0.46444	Speract/scavenger receptor-related (1);	1.323970	0.04820	N	0.436710	T	0.03959	0.0111	N	0.21324	0.655	0.09310	N	1	D;B;D	0.76494	0.999;0.047;0.999	D;B;D	0.67103	0.949;0.014;0.949	T	0.53099	-0.8486	10	0.72032	D	0.01	.	7.9616	0.30074	0.0:0.1732:0.648:0.1788	.	155;155;155	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	F	155;143;155;155	ENSP00000352071:S155F;ENSP00000444071:S143F;ENSP00000379863:S155F;ENSP00000403885:S155F	ENSP00000352071:S155F	S	-	2	0	CD163	7543045	0.002000	0.14202	0.918000	0.36340	0.147000	0.21601	0.817000	0.27281	2.469000	0.83416	0.650000	0.86243	TCC		0.408	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		10	548	0	0	0	1	0	10	548				
RHD	6007	broad.mit.edu	37	1	25628086	25628086	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:25628086C>T	ENST00000328664.4	+	5	865	c.710C>T	c.(709-711)gCc>gTc	p.A237V	RHD_ENST00000417538.2_Missense_Mutation_p.A237V|RHD_ENST00000357542.4_Missense_Mutation_p.A237V|RHD_ENST00000423810.2_Missense_Mutation_p.A237V|RHD_ENST00000454452.2_Missense_Mutation_p.A237V|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000342055.5_Missense_Mutation_p.A237V|RHD_ENST00000568195.1_Missense_Mutation_p.A237V	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	237						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGAAGAATGCCGTGTTCAAC	0.557																																						ENST00000328664.4																			0				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14						c.(709-711)gCc>gTc		Rh blood group, D antigen							197.0	154.0	169.0					1																	25628086		2122	3774	5896	SO:0001583	missense	6007					integral to plasma membrane		g.chr1:25628086C>T	AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.710C>T	1.37:g.25628086C>T	ENSP00000331871:p.Ala237Val		Somatic				RHD_ENST00000342055.5_Missense_Mutation_p.A237V|RHD_ENST00000357542.4_Missense_Mutation_p.A237V|RHD_ENST00000417538.2_Missense_Mutation_p.A237V|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000568195.1_Missense_Mutation_p.A237V|RHD_ENST00000454452.2_Missense_Mutation_p.A237V|RHD_ENST00000423810.2_Missense_Mutation_p.A237V	p.A237V	NM_016124.3	NP_057208.2	WXS	Illumina GAIIx	Phase_I	Q02161	RHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	5	865	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	237					Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	ENST00000328664.4	37	c.710C>T	CCDS262.1	.	.	.	.	.	.	.	.	.	.	.	15.89	2.965168	0.53507	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72	3.8	1.83	0.25207	Ammonium transporter AmtB-like (3);	0.113575	0.64402	D	0.000015	T	0.45597	0.1350	M	0.80746	2.51	0.43879	D	0.996498	P;P;D;P;P;P;D;P	0.76494	0.857;0.857;0.999;0.722;0.678;0.896;0.998;0.927	P;P;D;P;P;B;D;P	0.79108	0.811;0.789;0.992;0.714;0.57;0.446;0.923;0.665	T	0.30937	-0.9961	10	0.87932	D	0	-6.7567	5.0704	0.14604	0.0:0.661:0.2148:0.1242	.	237;237;237;237;237;237;237;237	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	V	237	ENSP00000331871:A237V;ENSP00000413849:A237V;ENSP00000339577:A237V;ENSP00000350150:A237V;ENSP00000396420:A237V;ENSP00000399640:A237V	ENSP00000331871:A237V	A	+	2	0	RHD	25500673	0.894000	0.30519	0.038000	0.18304	0.071000	0.16799	2.131000	0.42074	0.104000	0.17725	0.184000	0.17185	GCC		0.557	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124		5	709	0	0	0	1	0	5	709				
OR4Q3	441669	broad.mit.edu	37	14	20215690	20215690	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:20215690A>T	ENST00000331723.1	+	1	104	c.104A>T	c.(103-105)tAc>tTc	p.Y35F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTTTTTTTACATTGCTATT	0.378																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(103-105)tAc>tTc		olfactory receptor, family 4, subfamily Q, member 3							169.0	173.0	172.0					14																	20215690		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215690A>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.104A>T	14.37:g.20215690A>T	ENSP00000330049:p.Tyr35Phe		Somatic					p.Y35F	NM_172194.1	NP_751944.1	WXS	Illumina GAIIx	Phase_I	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	104	+	all_cancers(95;0.00108)		35					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.104A>T	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	12.51	1.958973	0.34565	.	.	ENSG00000182652	ENST00000331723	T	0.04406	3.63	4.32	3.09	0.35607	.	0.000000	0.36591	U	0.002508	T	0.10637	0.0260	M	0.85542	2.76	0.27984	N	0.935927	P	0.46512	0.879	P	0.44518	0.452	T	0.06991	-1.0796	10	0.87932	D	0	.	8.4189	0.32687	0.8259:0.0:0.0:0.1741	.	35	Q8NH05	OR4Q3_HUMAN	F	35	ENSP00000330049:Y35F	ENSP00000330049:Y35F	Y	+	2	0	OR4Q3	19285530	0.740000	0.28207	0.136000	0.22124	0.867000	0.49689	1.606000	0.36826	1.814000	0.52955	0.416000	0.27883	TAC		0.378	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			8	299	0	0	0	1	0	8	299				
USP32P2	220594	broad.mit.edu	37	17	18420715	18420715	+	RNA	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:18420715G>A	ENST00000425211.1	-	0	1762				USP32P2_ENST00000412260.1_RNA																							AAACTTTCCCGAGGAAATTTG	0.443																																						ENST00000425211.1																			0																																																			220594							g.chr17:18420715G>A																													17.37:g.18420715G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	1762	-									RNA	SNP	ENST00000425211.1	37																																																																																						0.443	CTD-2303H24.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473021.1			27	28	0	0	0	1	0	27	28				
ST6GALNAC6	30815	broad.mit.edu	37	9	130653221	130653221	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:130653221G>A	ENST00000373146.1	-	5	578	c.399C>T	c.(397-399)atC>atT	p.I133I	ST6GALNAC6_ENST00000373141.1_Silent_p.I99I|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373144.3_Silent_p.I99I|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Silent_p.I133I|ST6GALNAC6_ENST00000291839.5_Silent_p.I133I			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	133					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CATTCATGCGGATTGTACACT	0.607																																						ENST00000373146.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(397-399)atC>atT		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6							95.0	85.0	88.0					9																	130653221		2203	4300	6503	SO:0001819	synonymous_variant	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130653221G>A	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.399C>T	9.37:g.130653221G>A			Somatic				ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Silent_p.I133I|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373141.1_Silent_p.I99I|ST6GALNAC6_ENST00000373144.3_Silent_p.I99I|ST6GALNAC6_ENST00000291839.5_Silent_p.I133I	p.I133I			WXS	Illumina GAIIx	Phase_I	Q969X2	SIA7F_HUMAN			5	578	-			133					B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Silent	SNP	ENST00000373146.1	37	c.399C>T	CCDS6882.1																																																																																				0.607	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		4	20	0	0	0	1	0	4	20				
SERPINB7	8710	broad.mit.edu	37	18	61463591	61463591	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr18:61463591A>G	ENST00000398019.2	+	5	753	c.428A>G	c.(427-429)aAt>aGt	p.N143S	SERPINB7_ENST00000540675.1_Missense_Mutation_p.N126S|SERPINB7_ENST00000336429.2_Missense_Mutation_p.N143S|SERPINB7_ENST00000546027.1_Missense_Mutation_p.N143S	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	143					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.N143S(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CGTAATATTAATAAGTGGGTT	0.353																																						ENST00000398019.2																			1	Substitution - Missense(1)	p.N143S(1)	kidney(1)	central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(427-429)aAt>aGt		serpin peptidase inhibitor, clade B (ovalbumin), member 7							78.0	80.0	79.0					18																	61463591		2203	4299	6502	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61463591A>G	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.428A>G	18.37:g.61463591A>G	ENSP00000381101:p.Asn143Ser		Somatic				SERPINB7_ENST00000336429.2_Missense_Mutation_p.N143S|SERPINB7_ENST00000546027.1_Missense_Mutation_p.N143S|SERPINB7_ENST00000540675.1_Missense_Mutation_p.N126S	p.N143S	NM_003784.3	NP_003775.1	WXS	Illumina GAIIx	Phase_I	O75635	SPB7_HUMAN			5	753	+		Esophageal squamous(42;0.129)	143					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.428A>G	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.812234	0.50527	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000447428;ENST00000546027	D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-2.96;-3.13	5.56	5.56	0.83823	Serpin domain (3);	0.000000	0.56097	D	0.000024	D	0.97256	0.9103	H	0.95504	3.68	0.43029	D	0.994595	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.98662	1.0684	9	.	.	.	.	15.1782	0.72931	1.0:0.0:0.0:0.0	.	126;143	F5GZC0;O75635	.;SPB7_HUMAN	S	143;143;126;143;143	ENSP00000337212:N143S;ENSP00000381101:N143S;ENSP00000444572:N126S;ENSP00000402362:N143S;ENSP00000444861:N143S	.	N	+	2	0	SERPINB7	59614571	1.000000	0.71417	0.995000	0.50966	0.010000	0.07245	7.356000	0.79445	2.239000	0.73571	0.528000	0.53228	AAT		0.353	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		38	18	0	0	0	1	0	38	18				
ZNF737	100129842	broad.mit.edu	37	19	20727828	20727828	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:20727828T>C	ENST00000427401.4	-	4	1275	c.1181A>G	c.(1180-1182)gAg>gGg	p.E394G		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E393G(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GTAGGGTTTCTCTCCAGTATG	0.408																																						ENST00000427401.4																			1	Substitution - Missense(1)	p.E393G(1)	kidney(1)	breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(1180-1182)gAg>gGg		zinc finger protein 737							76.0	76.0	76.0					19																	20727828		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20727828T>C	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1181A>G	19.37:g.20727828T>C	ENSP00000395733:p.Glu394Gly		Somatic					p.E394G	NM_001159293.1	NP_001152765.1	WXS	Illumina GAIIx	Phase_I	C9JHM3	C9JHM3_HUMAN			4	1275	-			394					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.1181A>G	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	N	11.22	1.575053	0.28092	.	.	ENSG00000237440	ENST00000427401	T	0.27557	1.66	0.801	0.801	0.18679	.	.	.	.	.	T	0.31009	0.0783	M	0.67625	2.065	0.27757	N	0.943952	P	0.37141	0.584	B	0.39339	0.297	T	0.27191	-1.0081	9	0.72032	D	0.01	.	5.4149	0.16368	0.0:0.0:0.0:1.0	.	394	C9JHM3	.	G	394	ENSP00000395733:E394G	ENSP00000395733:E394G	E	-	2	0	ZNF737	20519668	0.965000	0.33210	0.578000	0.28575	0.580000	0.36256	2.046000	0.41260	0.147000	0.19030	0.145000	0.16022	GAG		0.408	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		20	57	0	0	0	1	0	20	57				
IQCK	124152	broad.mit.edu	37	16	19746673	19746673	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:19746673A>T	ENST00000320394.6	+	5	1075		c.e5-1		IQCK_ENST00000433597.2_Splice_Site|IQCK_ENST00000541926.1_Splice_Site|IQCK_ENST00000564186.1_Splice_Site	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K											kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TGTTTGTTTTAGGTTCTCCCA	0.428																																						ENST00000320394.6																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.e5-1		IQ motif containing K							73.0	70.0	71.0					16																	19746673		2197	4300	6497	SO:0001630	splice_region_variant	124152							g.chr16:19746673A>T	AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.377-1A>T	16.37:g.19746673A>T			Somatic				IQCK_ENST00000564186.1_Splice_Site|IQCK_ENST00000541926.1_Splice_Site|IQCK_ENST00000433597.2_Splice_Site		NM_153208.1	NP_694940.1	WXS	Illumina GAIIx	Phase_I	Q8N0W5	IQCK_HUMAN			5	1075	+								B2RDU0|O43327|Q8NFF4	Splice_Site	SNP	ENST00000320394.6	37		CCDS10580.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.991737	0.35131	.	.	ENSG00000174628	ENST00000320394;ENST00000308214;ENST00000541926;ENST00000433597	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3641	0.60674	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IQCK	19654174	1.000000	0.71417	0.983000	0.44433	0.485000	0.33311	5.410000	0.66381	2.095000	0.63458	0.533000	0.62120	.		0.428	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208	Intron	4	83	0	0	0	1	0	4	83				
ORC1	4998	broad.mit.edu	37	1	52851529	52851529	+	Silent	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:52851529T>A	ENST00000371568.3	-	9	1694	c.1476A>T	c.(1474-1476)cgA>cgT	p.R492R	ORC1_ENST00000371566.1_Silent_p.R492R	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	492					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R492R(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGTACCTCAGTCGGGCTTCCT	0.542																																						ENST00000371568.3																			1	Substitution - coding silent(1)	p.R492R(1)	kidney(1)	breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1474-1476)cgA>cgT		origin recognition complex, subunit 1							37.0	35.0	36.0					1																	52851529		2203	4300	6503	SO:0001819	synonymous_variant	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52851529T>A		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1476A>T	1.37:g.52851529T>A			Somatic				ORC1_ENST00000371566.1_Silent_p.R492R	p.R492R	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	WXS	Illumina GAIIx	Phase_I	Q13415	ORC1_HUMAN			9	1694	-			492					D3DQ34|Q13471|Q5T0F5	Silent	SNP	ENST00000371568.3	37	c.1476A>T	CCDS566.1																																																																																				0.542	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		11	41	0	0	0	1	0	11	41				
THYN1	29087	broad.mit.edu	37	11	134118717	134118717	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:134118717T>C	ENST00000341541.3	-	6	1078	c.617A>G	c.(616-618)cAg>cGg	p.Q206R	THYN1_ENST00000352327.5_Intron|THYN1_ENST00000392595.2_Missense_Mutation_p.Q206R|THYN1_ENST00000392594.3_Missense_Mutation_p.Q206R|THYN1_ENST00000525677.1_5'Flank	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	206						nucleus (GO:0005634)		p.Q206R(1)		endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		ggtcagggGCTGGATTGATAA	0.468																																						ENST00000341541.3																			1	Substitution - Missense(1)	p.Q206R(1)	kidney(1)	endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7						c.(616-618)cAg>cGg		thymocyte nuclear protein 1							84.0	91.0	88.0					11																	134118717		2201	4297	6498	SO:0001583	missense	29087					nucleus		g.chr11:134118717T>C	BC006978	CCDS8496.1, CCDS8497.1	11q25	2006-02-09			ENSG00000151500	ENSG00000151500			29560	protein-coding gene	gene with protein product		613739				14601557, 12384300	Standard	NM_014174		Approved	THY28	uc001qhg.3	Q9P016	OTTHUMG00000167176	ENST00000341541.3:c.617A>G	11.37:g.134118717T>C	ENSP00000341657:p.Gln206Arg		Somatic				THYN1_ENST00000352327.5_Intron|THYN1_ENST00000392595.2_Missense_Mutation_p.Q206R|THYN1_ENST00000392594.3_Missense_Mutation_p.Q206R	p.Q206R	NM_014174.2	NP_054893.1	WXS	Illumina GAIIx	Phase_I	Q9P016	THYN1_HUMAN		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)	6	1078	-	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	206					Q567Q2|Q9H3L4|Q9HC20	Missense_Mutation	SNP	ENST00000341541.3	37	c.617A>G	CCDS8496.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.222881	0.58668	.	.	ENSG00000151500	ENST00000392595;ENST00000341541;ENST00000392594	.	.	.	5.73	4.58	0.56647	EVE domain (1);PUA-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86171	0.5869	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87853	0.2659	9	0.48119	T	0.1	-16.1392	11.7768	0.51991	0.1322:0.0:0.0:0.8678	.	206	Q9P016	THYN1_HUMAN	R	206	.	ENSP00000341657:Q206R	Q	-	2	0	THYN1	133623927	1.000000	0.71417	0.735000	0.30896	0.320000	0.28249	7.421000	0.80204	0.966000	0.38159	0.533000	0.62120	CAG		0.468	THYN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393599.1	NM_014174		5	56	0	0	0	1	0	5	56				
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582																																						ENST00000406386.3																			6	Substitution - coding silent(6)	p.C432C(6)	kidney(3)|cervix(1)|lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1294-1296)tgC>tgT		TRIO and F-actin binding protein																																				SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119859C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1296C>T	22.37:g.38119859C>T			Somatic				RP1-37E16.12_ENST00000455236.1_RNA	p.C432C	NM_001039141.2	NP_001034230.1	WXS	Illumina GAIIx	Phase_I	Q9H2D6	TARA_HUMAN			7	1551	+	Melanoma(58;0.0574)		432					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1296C>T	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			4	97	0	0	0	1	0	4	97				
ASB13	79754	broad.mit.edu	37	10	5690940	5690940	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:5690940G>A	ENST00000357700.6	-	4	536	c.510C>T	c.(508-510)ctC>ctT	p.L170L	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	170					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		CACCTGCATTGAGCAGCACTT	0.587																																						ENST00000357700.6																			0				NS(1)|endometrium(3)|lung(3)|ovary(1)	8						c.(508-510)ctC>ctT		ankyrin repeat and SOCS box containing 13							119.0	107.0	111.0					10																	5690940		2203	4300	6503	SO:0001819	synonymous_variant	79754				intracellular signal transduction		protein binding	g.chr10:5690940G>A	AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"""Ankyrin repeat domain containing"""	19765	protein-coding gene	gene with protein product		615055	"""ankyrin repeat and SOCS box-containing 13"""			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.510C>T	10.37:g.5690940G>A			Somatic				ASB13_ENST00000479033.1_5'UTR	p.L170L	NM_024701.3	NP_078977.2	WXS	Illumina GAIIx	Phase_I	Q8WXK3	ASB13_HUMAN		GBM - Glioblastoma multiforme(2;9.59e-09)	4	536	-			170					A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Silent	SNP	ENST00000357700.6	37	c.510C>T	CCDS7070.1																																																																																				0.587	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046564.1			24	185	0	0	0	1	0	24	185				
FSIP1	161835	broad.mit.edu	37	15	40068678	40068678	+	Silent	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:40068678T>A	ENST00000350221.3	-	2	257	c.48A>T	c.(46-48)tcA>tcT	p.S16S	RP11-37C7.1_ENST00000558616.1_RNA	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	16								p.S16S(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TTCTTGAATTTGAAGCTGGTT	0.358																																						ENST00000350221.3																			1	Substitution - coding silent(1)	p.S16S(1)	kidney(1)	NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23						c.(46-48)tcA>tcT		fibrous sheath interacting protein 1							131.0	128.0	129.0					15																	40068678		2203	4300	6503	SO:0001819	synonymous_variant	161835							g.chr15:40068678T>A	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.48A>T	15.37:g.40068678T>A			Somatic				RP11-37C7.1_ENST00000558616.1_RNA	p.S16S	NM_152597.4	NP_689810.3	WXS	Illumina GAIIx	Phase_I	Q8NA03	FSIP1_HUMAN		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)	2	257	-		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)	16					Q6X2C8|Q86Y89	Silent	SNP	ENST00000350221.3	37	c.48A>T	CCDS10050.1																																																																																				0.358	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		59	80	0	0	0	1	0	59	80				
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G	rs370664533	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:62839353A>G	ENST00000328439.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000536311.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			2	Substitution - coding silent(2)	p.E268E(2)	prostate(1)|kidney(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(802-804)gaA>gaG		myelin transcription factor 1							19.0	19.0	19.0					20																	62839353		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839353A>G	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.804A>G	20.37:g.62839353A>G			Somatic				MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E268E	p.E268E			WXS	Illumina GAIIx	Phase_I	Q01538	MYT1_HUMAN			7	1168	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		268			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.804A>G	CCDS13558.1																																																																																				0.572	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		3	18	0	0	0	1	0	3	18				
MDH1	4190	broad.mit.edu	37	2	63834039	63834039	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:63834039T>A	ENST00000233114.8	+	9	1358	c.923T>A	c.(922-924)tTc>tAc	p.F308Y	MDH1_ENST00000544381.1_Missense_Mutation_p.F219Y|MDH1_ENST00000394423.1_Missense_Mutation_p.F308Y|MDH1_ENST00000409908.1_Missense_Mutation_p.F143Y|MDH1_ENST00000409476.1_Missense_Mutation_p.F184Y|MDH1_ENST00000539945.1_Missense_Mutation_p.F326Y	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	308					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	diiodophenylpyruvate reductase activity (GO:0047860)|L-malate dehydrogenase activity (GO:0030060)|malic enzyme activity (GO:0004470)|NAD binding (GO:0051287)	p.F308Y(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						ATTAATGATTTCTCACGTGAG	0.353																																						ENST00000233114.8																			1	Substitution - Missense(1)	p.F308Y(1)	kidney(1)	endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						c.(922-924)tTc>tAc		malate dehydrogenase 1, NAD (soluble)	NADH(DB00157)						83.0	85.0	84.0					2																	63834039		2203	4300	6503	SO:0001583	missense	4190				gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity	g.chr2:63834039T>A		CCDS1874.1, CCDS56121.1, CCDS56122.1	2p23	2012-10-02			ENSG00000014641	ENSG00000014641	1.1.1.37		6970	protein-coding gene	gene with protein product		154200					Standard	NM_005917		Approved		uc010ypv.2	P40925	OTTHUMG00000129512	ENST00000233114.8:c.923T>A	2.37:g.63834039T>A	ENSP00000233114:p.Phe308Tyr		Somatic				MDH1_ENST00000409908.1_Missense_Mutation_p.F143Y|MDH1_ENST00000409476.1_Missense_Mutation_p.F184Y|MDH1_ENST00000544381.1_Missense_Mutation_p.F219Y|MDH1_ENST00000539945.1_Missense_Mutation_p.F326Y|MDH1_ENST00000394423.1_Missense_Mutation_p.F308Y	p.F308Y	NM_005917.3	NP_005908.1	WXS	Illumina GAIIx	Phase_I	P40925	MDHC_HUMAN			9	1358	+			308					B2R5V5|B4DUN2|B7Z3I7|F5H098|Q6I9V0	Missense_Mutation	SNP	ENST00000233114.8	37	c.923T>A	CCDS1874.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985349	0.93044	.	.	ENSG00000014641	ENST00000233114;ENST00000409908;ENST00000409476;ENST00000539945;ENST00000544381;ENST00000394423	T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.76	5.76	0.90799	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.041315	0.85682	D	0.000000	T	0.81283	0.4790	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82756	-0.0300	10	0.62326	D	0.03	-24.9208	16.3786	0.83431	0.0:0.0:0.0:1.0	.	326;308	F5H098;P40925	.;MDHC_HUMAN	Y	308;143;184;326;219;308	ENSP00000233114:F308Y;ENSP00000386743:F143Y;ENSP00000386719:F184Y;ENSP00000438144:F326Y;ENSP00000446395:F219Y;ENSP00000377945:F308Y	ENSP00000233114:F308Y	F	+	2	0	MDH1	63687543	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.698000	0.84413	2.323000	0.78572	0.528000	0.53228	TTC		0.353	MDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251687.1			14	39	0	0	0	1	0	14	39				
IKBKB	3551	broad.mit.edu	37	8	42163859	42163859	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:42163859A>T	ENST00000520810.1	+	7	663		c.e7-1		IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000416505.2_Splice_Site|IKBKB_ENST00000519735.1_Splice_Site|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Splice_Site	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta						B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTTTTGTTTTAGTTAATACAC	0.438																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.e7-1		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						87.0	80.0	83.0					8																	42163859		2203	4300	6503	SO:0001630	splice_region_variant	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42163859A>T	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.478-1A>T	8.37:g.42163859A>T			Somatic				IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000416505.2_Splice_Site|IKBKB_ENST00000519735.1_Splice_Site		NM_001556.2	NP_001547.1	WXS	Illumina GAIIx	Phase_I	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		7	663	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)						B4DZ30|B4E0U4|O75327	Splice_Site	SNP	ENST00000520810.1	37		CCDS6128.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.595846	0.86953	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000519735;ENST00000520835	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2236	0.73333	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IKBKB	42283016	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	9.283000	0.95860	2.050000	0.60909	0.533000	0.62120	.		0.438	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1		Intron	5	71	0	0	0	1	0	5	71				
ARMC8	25852	broad.mit.edu	37	3	137960824	137960824	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:137960824G>A	ENST00000469044.1	+	11	1308	c.1037G>A	c.(1036-1038)aGg>aAg	p.R346K	ARMC8_ENST00000491704.1_Splice_Site_p.R304K|ARMC8_ENST00000358441.2_Splice_Site_p.R332K|ARMC8_ENST00000470821.1_Splice_Site_p.R346K|ARMC8_ENST00000471453.1_Splice_Site_p.R332K|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000485396.1_Splice_Site_p.R273K|ARMC8_ENST00000489213.1_Splice_Site_p.R304K|ARMC8_ENST00000481646.1_Splice_Site_p.R332K|ARMC8_ENST00000393058.3_Splice_Site_p.R336K|ARMC8_ENST00000538260.1_Splice_Site_p.R315K	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	346										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GATATTAAAAGGGTATGTTAT	0.378																																						ENST00000469044.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.e11+1		armadillo repeat containing 8							99.0	90.0	93.0					3																	137960824		2203	4300	6503	SO:0001630	splice_region_variant	25852						binding	g.chr3:137960824G>A		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1038+1G>A	3.37:g.137960824G>A			Somatic				ARMC8_ENST00000538260.1_Splice_Site_p.R315_splice|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Splice_Site_p.R304_splice|ARMC8_ENST00000489213.1_Splice_Site_p.R304_splice|ARMC8_ENST00000393058.3_Splice_Site_p.R336_splice|ARMC8_ENST00000358441.2_Splice_Site_p.R332_splice|ARMC8_ENST00000485396.1_Splice_Site_p.R273_splice|ARMC8_ENST00000481646.1_Splice_Site_p.R332_splice|ARMC8_ENST00000471453.1_Splice_Site_p.R332_splice|ARMC8_ENST00000470821.1_Splice_Site_p.R346_splice	p.R346_splice	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	WXS	Illumina GAIIx	Phase_I	Q8IUR7	ARMC8_HUMAN			11	1308	+			346					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Splice_Site	SNP	ENST00000469044.1	37	c.1038_splice		.	.	.	.	.	.	.	.	.	.	G	20.7	4.036021	0.75617	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000358441;ENST00000489213;ENST00000485396;ENST00000471453;ENST00000470821;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459	T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;2.26;1.53;0.43;2.26;2.25;0.43;-0.16	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70439	0.3224	L	0.47716	1.5	0.80722	D	1	P;P;P;B;B;B	0.47910	0.841;0.902;0.841;0.063;0.106;0.018	P;P;P;B;B;B	0.60173	0.745;0.87;0.745;0.015;0.019;0.008	T	0.61347	-0.7081	10	0.14252	T	0.57	-6.7866	17.8686	0.88804	0.0:0.0:1.0:0.0	.	273;315;346;332;346;332	B7Z637;F5GWK4;Q8IUR7;Q8IUR7-2;G5E9V6;Q8IUR7-6	.;.;ARMC8_HUMAN;.;.;.	K	332;346;304;332;304;273;332;346;315;336;240;203	ENSP00000420333:R332K;ENSP00000419413:R346K;ENSP00000417304:R304K;ENSP00000351221:R332K;ENSP00000418412:R304K;ENSP00000417049:R273K;ENSP00000420440:R332K;ENSP00000418405:R346K;ENSP00000441592:R315K;ENSP00000376778:R336K	ENSP00000351221:R332K	R	+	2	0	ARMC8	139443514	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.852000	0.99516	2.817000	0.96982	0.563000	0.77884	AGG		0.378	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396	Missense_Mutation	104	143	0	0	0	1	0	104	143				
XRCC1	7515	broad.mit.edu	37	19	44055819	44055819	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:44055819G>A	ENST00000262887.5	-	10	1650	c.1103C>T	c.(1102-1104)cCc>cTc	p.P368L	XRCC1_ENST00000543982.1_Missense_Mutation_p.P337L|L34079.3_ENST00000597119.1_RNA			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	368	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GCTGTACTTGGGGGTGTTGGC	0.617								Other BER factors																														ENST00000262887.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1102-1104)cCc>cTc	Other BER factors	X-ray repair complementing defective repair in Chinese hamster cells 1							87.0	84.0	85.0					19																	44055819		2203	4300	6503	SO:0001583	missense	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44055819G>A	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1103C>T	19.37:g.44055819G>A	ENSP00000262887:p.Pro368Leu		Somatic				XRCC1_ENST00000543982.1_Missense_Mutation_p.P337L	p.P368L			WXS	Illumina GAIIx	Phase_I	P18887	XRCC1_HUMAN			10	1650	-		Prostate(69;0.0153)	368			BRCT 1.		Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	37	c.1103C>T	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451489	0.84209	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	T;T	0.11712	2.75;2.97	4.81	4.81	0.61882	BRCT (4);	0.000000	0.85682	D	0.000000	T	0.41811	0.1175	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.49485	-0.8935	10	0.51188	T	0.08	-24.5281	16.185	0.81946	0.0:0.0:1.0:0.0	.	337;368	F5H8D7;P18887	.;XRCC1_HUMAN	L	382;368;337;368	ENSP00000262887:P368L;ENSP00000443671:P337L	ENSP00000262887:P368L	P	-	2	0	XRCC1	48747659	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.492000	0.90471	2.588000	0.87417	0.563000	0.77884	CCC		0.617	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297		8	326	0	0	0	1	0	8	326				
MCC	4163	broad.mit.edu	37	5	112458445	112458445	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:112458445C>T	ENST00000302475.4	-	4	956	c.393G>A	c.(391-393)atG>atA	p.M131I	MCC_ENST00000408903.3_Missense_Mutation_p.M321I|MCC_ENST00000515367.2_Missense_Mutation_p.M68I|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	131					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GGTCTTGGTCCATGCTTCGAG	0.522																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(391-393)atG>atA		mutated in colorectal cancers							175.0	140.0	152.0					5																	112458445		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112458445C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.393G>A	5.37:g.112458445C>T	ENSP00000305617:p.Met131Ile		Somatic				MCC_ENST00000515367.2_Missense_Mutation_p.M68I|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.M321I	p.M131I	NM_002387.2	NP_002378.1	WXS	Illumina GAIIx	Phase_I	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	4	956	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	131					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.393G>A	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082577	0.36758	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.77489	-1.1;2.59;1.42	5.76	3.05	0.35203	.	0.478146	0.25143	N	0.032814	T	0.55321	0.1913	N	0.08118	0	0.41610	D	0.9889	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.37291	-0.9712	10	0.15499	T	0.54	-7.3774	10.7127	0.45993	0.0:0.7923:0.0:0.2077	.	131;93;321;131	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	I	131;68;321	ENSP00000305617:M131I;ENSP00000421615:M68I;ENSP00000386227:M321I	ENSP00000305617:M131I	M	-	3	0	MCC	112486344	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	1.549000	0.36212	0.374000	0.24650	0.563000	0.77884	ATG		0.522	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		8	157	0	0	0	1	0	8	157				
ZYG11B	79699	broad.mit.edu	37	1	53245634	53245634	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:53245634T>A	ENST00000294353.6	+	4	1206	c.1061T>A	c.(1060-1062)gTg>gAg	p.V354E	ZYG11B_ENST00000443756.2_Missense_Mutation_p.V354E|ZYG11B_ENST00000545132.1_Missense_Mutation_p.V354E	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	354								p.V354E(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CTGACTCATGTGATGGAAAAA	0.363																																						ENST00000294353.6																			1	Substitution - Missense(1)	p.V354E(1)	kidney(1)	breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						c.(1060-1062)gTg>gAg		zyg-11 family member B, cell cycle regulator							136.0	132.0	134.0					1																	53245634		2203	4300	6503	SO:0001583	missense	79699						protein binding	g.chr1:53245634T>A	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1061T>A	1.37:g.53245634T>A	ENSP00000294353:p.Val354Glu		Somatic				ZYG11B_ENST00000443756.2_Missense_Mutation_p.V354E|ZYG11B_ENST00000545132.1_Missense_Mutation_p.V354E	p.V354E	NM_024646.2	NP_078922.1	WXS	Illumina GAIIx	Phase_I	Q9C0D3	ZY11B_HUMAN			4	1206	+			354					Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	c.1061T>A	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	T	6.345	0.431839	0.12045	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.07021	3.23;3.23;3.23	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.054749	0.64402	D	0.000001	T	0.06280	0.0162	L	0.31294	0.92	0.49483	D	0.999799	B;B	0.32467	0.372;0.006	B;B	0.29077	0.098;0.006	T	0.07809	-1.0753	10	0.02654	T	1	.	15.6846	0.77400	0.0:0.0:0.0:1.0	.	354;354	B4DK95;Q9C0D3	.;ZY11B_HUMAN	E	354	ENSP00000400522:V354E;ENSP00000441315:V354E;ENSP00000294353:V354E	ENSP00000294353:V354E	V	+	2	0	ZYG11B	53018222	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.008000	0.57103	2.098000	0.63641	0.528000	0.53228	GTG		0.363	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		53	86	0	0	0	1	0	53	86				
ABHD14A	25864	broad.mit.edu	37	3	52012054	52012054	+	Silent	SNP	G	G	A	rs201635694	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:52012054G>A	ENST00000273596.3	+	2	305	c.237G>A	c.(235-237)tcG>tcA	p.S79S	ABHD14B_ENST00000483233.1_Intron|ACY1_ENST00000458031.2_Missense_Mutation_p.R31H|ABHD14A_ENST00000491470.1_Silent_p.S79S|ABHD14A-ACY1_ENST00000463937.1_Silent_p.S79S	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	79						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.S79S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGGCAACTCGCCCATCTTTT	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		18569	0.001		0.001	False		,,,				2504	0.0					ENST00000458031.2																			1	Substitution - coding silent(1)	p.S79S(1)	kidney(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(91-93)cGc>cAc		aminoacylase 1	L-Aspartic Acid(DB00128)						38.0	35.0	36.0					3																	52012054		2202	4300	6502	SO:0001819	synonymous_variant	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52012054G>A	AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"""Abhydrolase domain containing"""	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.237G>A	3.37:g.52012054G>A			Somatic				ABHD14B_ENST00000483233.1_Intron|ABHD14A_ENST00000491470.1_Silent_p.S79S|ABHD14A-ACY1_ENST00000463937.1_Silent_p.S79S|ABHD14A_ENST00000273596.3_Silent_p.S79S	p.R31H			WXS	Illumina GAIIx	Phase_I	Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	323	+			0					Q6UXU8|Q9Y3T7	Missense_Mutation	SNP	ENST00000273596.3	37	c.92G>A	CCDS2843.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.15	3.041065	0.55003	.	.	ENSG00000114786	ENST00000458031	T	0.73575	-0.76	5.93	2.14	0.27477	.	.	.	.	.	T	0.61489	0.2351	.	.	.	0.52099	D	0.999949	B	0.26195	0.144	B	0.09377	0.004	T	0.57694	-0.7767	8	0.87932	D	0	-8.1994	6.2388	0.20778	0.0:0.6399:0.1333:0.2269	.	31	B4DNW0	.	H	31	ENSP00000390557:R31H	ENSP00000390557:R31H	R	+	2	0	RP11-155D18.11	51987094	0.048000	0.20356	0.755000	0.31263	0.994000	0.84299	0.005000	0.13129	0.421000	0.25980	-0.128000	0.14901	CGC		0.617	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	NM_015407		14	7	0	0	0	1	0	14	7				
PTPRO	5800	broad.mit.edu	37	12	15742486	15742486	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:15742486G>A	ENST00000281171.4	+	25	3838	c.3508G>A	c.(3508-3510)Gaa>Aaa	p.E1170K	PTPRO_ENST00000542557.1_Missense_Mutation_p.E331K|PTPRO_ENST00000445537.2_Missense_Mutation_p.E359K|PTPRO_ENST00000544244.1_Missense_Mutation_p.E331K|PTPRO_ENST00000442921.2_Missense_Mutation_p.E359K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E1142K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1170	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCTGGTGTCAGAAATGAGGTC	0.443																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(3508-3510)Gaa>Aaa		protein tyrosine phosphatase, receptor type, O							181.0	164.0	170.0					12																	15742486		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15742486G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3508G>A	12.37:g.15742486G>A	ENSP00000281171:p.Glu1170Lys		Somatic				PTPRO_ENST00000544244.1_Missense_Mutation_p.E331K|PTPRO_ENST00000445537.2_Missense_Mutation_p.E359K|PTPRO_ENST00000542557.1_Missense_Mutation_p.E331K|PTPRO_ENST00000442921.2_Missense_Mutation_p.E359K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E1142K	p.E1170K	NM_030667.2	NP_109592.1	WXS	Illumina GAIIx	Phase_I	Q16827	PTPRO_HUMAN			25	3838	+		Hepatocellular(102;0.244)	1170			Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.3508G>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.627889	0.66901	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.1	5.1	0.69264	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.134025	0.33875	N	0.004475	T	0.68091	0.2963	N	0.17594	0.5	0.58432	D	0.999999	B;P;P	0.37914	0.067;0.556;0.611	B;B;B	0.30105	0.062;0.067;0.111	T	0.68652	-0.5352	10	0.09590	T	0.72	.	18.701	0.91620	0.0:0.0:1.0:0.0	.	331;1142;1170	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	K	1170;1142;359;331;359;331	ENSP00000281171:E1170K;ENSP00000343434:E1142K;ENSP00000404188:E359K;ENSP00000437571:E331K;ENSP00000393449:E359K;ENSP00000439234:E331K	ENSP00000281171:E1170K	E	+	1	0	PTPRO	15633753	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.640000	0.98453	2.649000	0.89929	0.561000	0.74099	GAA		0.443	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			7	287	0	0	0	1	0	7	287				
PTPRK	5796	broad.mit.edu	37	6	128297850	128297850	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:128297850C>T	ENST00000368215.3	-	27	3917	c.3918G>A	c.(3916-3918)atG>atA	p.M1306I	PTPRK_ENST00000368226.4_Missense_Mutation_p.M1307I|PTPRK_ENST00000368213.5_Missense_Mutation_p.M1313I|PTPRK_ENST00000368210.3_Missense_Mutation_p.M1325I|PTPRK_ENST00000368227.3_Missense_Mutation_p.M1324I|PTPRK_ENST00000532331.1_Missense_Mutation_p.M1329I|PTPRK_ENST00000368207.3_Missense_Mutation_p.M1339I			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1306	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CATCACAGTCCATTGAACAAG	0.438																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(3970-3972)atG>atA		protein tyrosine phosphatase, receptor type, K							104.0	86.0	92.0					6																	128297850		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128297850C>T	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3918G>A	6.37:g.128297850C>T	ENSP00000357198:p.Met1306Ile		Somatic				PTPRK_ENST00000368215.3_Missense_Mutation_p.M1306I|PTPRK_ENST00000532331.1_Missense_Mutation_p.M1329I|PTPRK_ENST00000368213.5_Missense_Mutation_p.M1313I|PTPRK_ENST00000368207.3_Missense_Mutation_p.M1339I|PTPRK_ENST00000368226.4_Missense_Mutation_p.M1307I|PTPRK_ENST00000368210.3_Missense_Mutation_p.M1325I	p.M1324I			WXS	Illumina GAIIx	Phase_I	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	28	4338	-			1306			Tyrosine-protein phosphatase 2.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.3972G>A		.	.	.	.	.	.	.	.	.	.	C	10.46	1.355308	0.24512	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.56	5.56	0.83823	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.039016	0.85682	D	0.000000	T	0.66237	0.2769	N	0.01235	-0.94	0.80722	D	1	B;B;P;P	0.48503	0.302;0.257;0.911;0.892	B;B;P;P	0.57324	0.105;0.064;0.818;0.722	T	0.72984	-0.4125	10	0.15952	T	0.53	.	19.8818	0.96901	0.0:1.0:0.0:0.0	.	1329;1313;1306;1307	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	I	1307;1324;1329;1313;1325;1306;1339	ENSP00000357209:M1307I;ENSP00000357210:M1324I;ENSP00000432973:M1329I;ENSP00000357196:M1313I;ENSP00000357193:M1325I;ENSP00000357198:M1306I;ENSP00000357190:M1339I	ENSP00000357190:M1339I	M	-	3	0	PTPRK	128339543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.773000	0.95371	0.655000	0.94253	ATG		0.438	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			4	83	0	0	0	1	0	4	83				
PQLC3	130814	broad.mit.edu	37	2	11304356	11304356	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:11304356C>A	ENST00000295083.3	+	4	498	c.323C>A	c.(322-324)gCc>gAc	p.A108D	PQLC3_ENST00000402361.1_Missense_Mutation_p.A108D|PQLC3_ENST00000441908.2_Missense_Mutation_p.A108D|PQLC3_ENST00000476787.1_Intron	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	108						integral component of membrane (GO:0016021)		p.A108D(1)		kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TTCATCCTTGCCCTGCAGAAG	0.458																																						ENST00000295083.3																			1	Substitution - Missense(1)	p.A108D(1)	kidney(1)	kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(322-324)gCc>gAc		PQ loop repeat containing 3							207.0	152.0	171.0					2																	11304356		2203	4300	6503	SO:0001583	missense	130814					integral to membrane		g.chr2:11304356C>A	BC027625	CCDS1679.1, CCDS62856.1, CCDS62857.1	2p25.1	2004-02-05	2005-07-19	2005-07-19	ENSG00000162976	ENSG00000162976			28503	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 22"""	C2orf22		12477932	Standard	NM_001282711		Approved	MGC33602	uc002rbc.3	Q8N755	OTTHUMG00000119055	ENST00000295083.3:c.323C>A	2.37:g.11304356C>A	ENSP00000295083:p.Ala108Asp		Somatic				PQLC3_ENST00000441908.2_Missense_Mutation_p.A108D|PQLC3_ENST00000476787.1_Intron|PQLC3_ENST00000402361.1_Missense_Mutation_p.A108D	p.A108D	NM_152391.3	NP_689604.1	WXS	Illumina GAIIx	Phase_I	Q8N755	PQLC3_HUMAN		Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)	4	498	+	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)		108					B2R8K1|B4DWA4	Missense_Mutation	SNP	ENST00000295083.3	37	c.323C>A	CCDS1679.1	.	.	.	.	.	.	.	.	.	.	C	7.080	0.570038	0.13560	.	.	ENSG00000162976	ENST00000445402;ENST00000295083;ENST00000441908;ENST00000402361	D;T;D;D	0.86769	-2.17;-0.57;-2.14;-2.1	5.68	3.86	0.44501	.	0.267496	0.42294	D	0.000733	T	0.80319	0.4601	L	0.38175	1.15	0.09310	N	0.999999	B;B	0.29341	0.242;0.242	B;B	0.24541	0.054;0.054	T	0.66810	-0.5829	10	0.34782	T	0.22	-27.8055	13.2975	0.60305	0.0:0.603:0.397:0.0	.	108;108	B4DWA4;Q8N755	.;PQLC3_HUMAN	D	131;108;108;108	ENSP00000410430:A131D;ENSP00000295083:A108D;ENSP00000406148:A108D;ENSP00000384129:A108D	ENSP00000295083:A108D	A	+	2	0	PQLC3	11221807	0.775000	0.28604	0.016000	0.15963	0.566000	0.35808	2.938000	0.48987	0.724000	0.32296	0.561000	0.74099	GCC		0.458	PQLC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239266.4	NM_152391		46	83	1	0	3.76628e-20	1	3.99629e-20	46	83				
IGKV1-6	28943	broad.mit.edu	37	2	89265853	89265853	+	RNA	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:89265853G>A	ENST00000464162.1	-	0	307									immunoglobulin kappa variable 1-6																		TGGTGAGAGTGAAATCTGTGC	0.478																																						ENST00000464162.1																			0																				165.0	158.0	160.0					2																	89265853		1878	4106	5984			28943							g.chr2:89265853G>A	M64858		2p11.2	2012-02-10			ENSG00000239855	ENSG00000239855		"""Immunoglobulins / IGK locus"""	5742	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151559		2.37:g.89265853G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	307	-									RNA	SNP	ENST00000464162.1	37																																																																																						0.478	IGKV1-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323134.2	NG_000834		6	309	0	0	0	1	0	6	309				
LRP2	4036	broad.mit.edu	37	2	170096194	170096194	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:170096194G>A	ENST00000263816.3	-	26	4422	c.4137C>T	c.(4135-4137)ttC>ttT	p.F1379F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1379	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGGCAAGTAAGAATCCCAATG	0.428																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(4135-4137)ttC>ttT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						118.0	115.0	116.0					2																	170096194		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170096194G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4137C>T	2.37:g.170096194G>A			Somatic					p.F1379F	NM_004525.2	NP_004516.2	WXS	Illumina GAIIx	Phase_I	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	26	4422	-			1379			EGF-like 5.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.4137C>T	CCDS2232.1																																																																																				0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		46	219	0	0	0	1	0	46	219				
HIST1H2BL	8340	broad.mit.edu	37	6	27775524	27775524	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:27775524C>T	ENST00000377401.2	-	1	185	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2AI_ENST00000358739.3_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	54					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						AGAAGAGATGCCGGTGTCGGG	0.582																																						ENST00000377401.2																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(160-162)gGc>gAc		histone cluster 1, H2bl							206.0	195.0	199.0					6																	27775524		2203	4300	6503	SO:0001583	missense	8340				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27775524C>T	Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"""Histones / Replication-dependent"""	4748	protein-coding gene	gene with protein product		602800	"""H2B histone family, member C"", ""histone 1, H2bl"""	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.161G>A	6.37:g.27775524C>T	ENSP00000366618:p.Gly54Asp		Somatic					p.G54D	NM_003519.3	NP_003510.1	WXS	Illumina GAIIx	Phase_I	Q99880	H2B1L_HUMAN			1	185	-			54					B2R5A3|Q52LW9	Missense_Mutation	SNP	ENST00000377401.2	37	c.161G>A	CCDS4625.1	.	.	.	.	.	.	.	.	.	.	.	23.5	4.420936	0.83559	.	.	ENSG00000185130	ENST00000377401	T	0.69435	-0.4	4.35	4.35	0.52113	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.85835	0.5789	H	0.98426	4.23	0.58432	D	0.999994	P	0.42161	0.772	P	0.56700	0.804	D	0.90595	0.4540	9	0.87932	D	0	.	16.7577	0.85504	0.0:1.0:0.0:0.0	.	54	Q99880	H2B1L_HUMAN	D	54	ENSP00000366618:G54D	ENSP00000366618:G54D	G	-	2	0	HIST1H2BL	27883503	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.331000	0.59273	2.335000	0.79485	0.655000	0.94253	GGC		0.582	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040153.1	NM_003519		4	177	0	0	0	1	0	4	177				
FLG2	388698	broad.mit.edu	37	1	152325175	152325175	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152325175T>C	ENST00000388718.5	-	3	5159	c.5087A>G	c.(5086-5088)cAt>cGt	p.H1696R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1696					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTGTCCATGAGTAGTTCC	0.493																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5086-5088)cAt>cGt		filaggrin family member 2							413.0	360.0	378.0					1																	152325175		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325175T>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5087A>G	1.37:g.152325175T>C	ENSP00000373370:p.His1696Arg		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.H1696R	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5159	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1696					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5087A>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.388893	0.25118	.	.	ENSG00000143520	ENST00000388718	T	0.37752	1.18	4.43	4.43	0.53597	.	.	.	.	.	T	0.14485	0.0350	M	0.67397	2.05	0.09310	N	1	P	0.43750	0.816	B	0.34093	0.175	T	0.09314	-1.0680	9	0.16420	T	0.52	0.001	10.3995	0.44220	0.0:0.0:0.0:1.0	.	1696	Q5D862	FILA2_HUMAN	R	1696	ENSP00000373370:H1696R	ENSP00000373370:H1696R	H	-	2	0	FLG2	150591799	0.001000	0.12720	0.021000	0.16686	0.004000	0.04260	0.118000	0.15605	1.775000	0.52247	0.374000	0.22700	CAT		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		19	1240	0	0	0	1	0	19	1240				
ALS2	57679	broad.mit.edu	37	2	202626520	202626520	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:202626520C>T	ENST00000264276.6	-	4	569	c.197G>A	c.(196-198)gGg>gAg	p.G66E	ALS2_ENST00000467448.1_Missense_Mutation_p.G66E|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	66					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GGGAAGAGTCCCAAAGCTGTA	0.383																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(196-198)gGg>gAg		amyotrophic lateral sclerosis 2 (juvenile)							71.0	66.0	68.0					2																	202626520		1824	4075	5899	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202626520C>T	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.197G>A	2.37:g.202626520C>T	ENSP00000264276:p.Gly66Glu		Somatic				ALS2_ENST00000467448.1_Missense_Mutation_p.G66E|ALS2_ENST00000496244.1_5'UTR	p.G66E	NM_020919.3	NP_065970.2	WXS	Illumina GAIIx	Phase_I	Q96Q42	ALS2_HUMAN			4	569	-			66					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.197G>A	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.964834	0.92791	.	.	ENSG00000003393	ENST00000264276;ENST00000467448;ENST00000409632;ENST00000410052	D;D;D;D	0.99245	-5.62;-5.62;-5.62;-5.62	6.07	6.07	0.98685	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.99582	0.9849	M	0.91561	3.22	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98459	1.0595	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	66;66;66;66	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	E	66	ENSP00000264276:G66E;ENSP00000429223:G66E;ENSP00000386384:G66E;ENSP00000386948:G66E	ENSP00000264276:G66E	G	-	2	0	ALS2	202334765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.885000	0.99019	0.655000	0.94253	GGG		0.383	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		5	149	0	0	0	1	0	5	149				
CLASP2	23122	broad.mit.edu	37	3	33725901	33725901	+	Silent	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:33725901C>A	ENST00000468888.2	-	6	640	c.594G>T	c.(592-594)gtG>gtT	p.V198V	CLASP2_ENST00000399362.4_Silent_p.V198V|CLASP2_ENST00000359576.5_Silent_p.V198V|CLASP2_ENST00000307312.7_5'UTR			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1251					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.V198V(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CTTTTTCTCCCACATGTCTAT	0.318																																						ENST00000399362.4																			1	Substitution - coding silent(1)	p.V198V(1)	kidney(1)	breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(592-594)gtG>gtT		cytoplasmic linker associated protein 2							141.0	141.0	141.0					3																	33725901		1815	4079	5894	SO:0001819	synonymous_variant	23122							g.chr3:33725901C>A	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.594G>T	3.37:g.33725901C>A			Somatic				CLASP2_ENST00000468888.2_Silent_p.V198V|CLASP2_ENST00000359576.5_Silent_p.V198V|CLASP2_ENST00000307312.7_5'UTR	p.V198V	NM_015097.2	NP_055912.2	WXS	Illumina GAIIx	Phase_I	B2RTR1	B2RTR1_HUMAN			6	947	-			198					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Silent	SNP	ENST00000468888.2	37	c.594G>T																																																																																					0.318	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		59	61	1	0	4.97629e-18	1	5.26678e-18	59	61				
EMC1	23065	broad.mit.edu	37	1	19559502	19559502	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:19559502G>A	ENST00000477853.1	-	14	1602	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	EMC1_ENST00000375208.3_Silent_p.I498I|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.I519I	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	520						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TGTCAATGTTGATCTCATTCT	0.493																																						ENST00000477853.1																			0											c.(1558-1560)atC>atT		ER membrane protein complex subunit 1							205.0	213.0	211.0					1																	19559502		2203	4300	6503	SO:0001819	synonymous_variant	23065							g.chr1:19559502G>A		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1560C>T	1.37:g.19559502G>A			Somatic				RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.I519I|EMC1_ENST00000375208.3_Silent_p.I498I	p.I520I	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1	WXS	Illumina GAIIx	Phase_I					14	1602	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	c.1560C>T	CCDS190.1	.	.	.	.	.	.	.	.	.	.	G	9.335	1.061433	0.19987	.	.	ENSG00000127463	ENST00000375197	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.3839	11.8972	0.52663	0.083:0.0:0.917:0.0	.	.	.	.	X	254	.	.	Q	-	1	0	KIAA0090	19432089	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.124000	0.42006	2.735000	0.93741	0.655000	0.94253	CAA		0.493	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		9	452	0	0	0	1	0	9	452				
FAM188B	84182	broad.mit.edu	37	7	30868348	30868348	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:30868348G>A	ENST00000265299.6	+	6	1204	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	376										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTGCCCTGCGGCTCGGTAGG	0.577																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1126-1128)cGg>cAg		family with sequence similarity 188, member B							121.0	125.0	124.0					7																	30868348		2033	4188	6221	SO:0001583	missense	84182							g.chr7:30868348G>A	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1127G>A	7.37:g.30868348G>A	ENSP00000265299:p.Arg376Gln		Somatic				INMT-FAM188B_ENST00000458257.1_3'UTR	p.R376Q	NM_032222.2	NP_115598.2	WXS	Illumina GAIIx	Phase_I	Q4G0A6	F188B_HUMAN			6	1204	+			376					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.1127G>A	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	G	0.303	-0.972480	0.02215	.	.	ENSG00000106125	ENST00000265299	T	0.09073	3.02	3.3	-1.98	0.07480	.	1.137110	0.06545	N	0.744044	T	0.02267	0.0070	N	0.00321	-1.65	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44742	-0.9308	10	0.87932	D	0	-37.2256	7.2327	0.26051	0.6464:0.0:0.3536:0.0	.	376	Q4G0A6	F188B_HUMAN	Q	376	ENSP00000265299:R376Q	ENSP00000265299:R376Q	R	+	2	0	FAM188B	30834873	0.682000	0.27624	0.190000	0.23270	0.006000	0.05464	0.000000	0.12993	-0.364000	0.08088	-2.040000	0.00418	CGG		0.577	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		287	1074	0	0	0	1	0	287	1074				
ZNF318	24149	broad.mit.edu	37	6	43306092	43306092	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:43306092C>T	ENST00000361428.2	-	10	5721	c.5644G>A	c.(5644-5646)Gat>Aat	p.D1882N	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1882					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ACAGGTGTATCTTGTGGGTTG	0.418																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(5644-5646)Gat>Aat		zinc finger protein 318							76.0	79.0	78.0					6																	43306092		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43306092C>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5644G>A	6.37:g.43306092C>T	ENSP00000354964:p.Asp1882Asn		Somatic				ZNF318_ENST00000318149.3_Intron	p.D1882N	NM_014345.2	NP_055160.2	WXS	Illumina GAIIx	Phase_I	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	5721	-			1882					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.5644G>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480494	0.63849	.	.	ENSG00000171467	ENST00000361428	T	0.13307	2.6	6.16	-0.353	0.12594	.	0.822214	0.10791	N	0.633694	T	0.03305	0.0096	L	0.27053	0.805	0.46396	D	0.999026	P	0.46142	0.873	B	0.42361	0.385	T	0.54166	-0.8334	10	0.23891	T	0.37	-3.6802	5.913	0.19039	0.1295:0.5001:0.0:0.3705	.	1882	Q5VUA4	ZN318_HUMAN	N	1882	ENSP00000354964:D1882N	ENSP00000354964:D1882N	D	-	1	0	ZNF318	43414070	0.000000	0.05858	0.450000	0.26969	0.886000	0.51366	-0.925000	0.03992	0.167000	0.19631	0.650000	0.86243	GAT		0.418	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		13	144	0	0	0	1	0	13	144				
TMCC3	57458	broad.mit.edu	37	12	94965356	94965356	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:94965356G>A	ENST00000261226.4	-	4	1420	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	TMCC3_ENST00000551457.1_Missense_Mutation_p.S399F	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	430						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CGCGATGGTGGACACACACAC	0.493																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(1288-1290)tCc>tTc		transmembrane and coiled-coil domain family 3							250.0	227.0	234.0					12																	94965356		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94965356G>A	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1289C>T	12.37:g.94965356G>A	ENSP00000261226:p.Ser430Phe		Somatic				TMCC3_ENST00000551457.1_Missense_Mutation_p.S399F	p.S430F	NM_020698.2	NP_065749.2	WXS	Illumina GAIIx	Phase_I	Q9ULS5	TMCC3_HUMAN			4	1420	-			430					Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.1289C>T	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620808	0.87460	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.59224	0.28;0.28	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.78266	0.4256	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.81315	-0.0988	10	0.87932	D	0	-25.4437	19.0192	0.92906	0.0:0.0:1.0:0.0	.	430	Q9ULS5	TMCC3_HUMAN	F	430;399	ENSP00000261226:S430F;ENSP00000449888:S399F	ENSP00000261226:S430F	S	-	2	0	TMCC3	93489487	1.000000	0.71417	0.997000	0.53966	0.781000	0.44180	9.789000	0.99068	2.495000	0.84180	0.561000	0.74099	TCC		0.493	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		140	778	0	0	0	1	0	140	778				
DSEL	92126	broad.mit.edu	37	18	65179125	65179125	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr18:65179125C>T	ENST00000310045.7	-	2	4224	c.2751G>A	c.(2749-2751)aaG>aaA	p.K917K	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	907					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TATCTGACACCTTCCATTCAC	0.423																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2749-2751)aaG>aaA		dermatan sulfate epimerase-like							79.0	79.0	79.0					18																	65179125		2203	4300	6503	SO:0001819	synonymous_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179125C>T	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2751G>A	18.37:g.65179125C>T			Somatic				CTD-2541J13.2_ENST00000583493.1_RNA	p.K917K	NM_032160.2	NP_115536.1	WXS	Illumina GAIIx	Phase_I	Q8IZU8	DSEL_HUMAN			2	4224	-		Esophageal squamous(42;0.129)	907					Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	c.2751G>A	CCDS11995.1																																																																																				0.423	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		9	85	0	0	0	1	0	9	85				
ALG10B	144245	broad.mit.edu	37	12	38714411	38714411	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:38714411G>A	ENST00000308742.4	+	3	1134	c.818G>A	c.(817-819)gGa>gAa	p.G273E	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	273					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GTTAATGGTGGAATTGTTATT	0.358																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(817-819)gGa>gAa		ALG10B, alpha-1,2-glucosyltransferase							171.0	173.0	172.0					12																	38714411		2203	4296	6499	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714411G>A	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.818G>A	12.37:g.38714411G>A	ENSP00000310120:p.Gly273Glu		Somatic				ALG10B_ENST00000551464.1_Intron	p.G273E	NM_001013620.3	NP_001013642.1	WXS	Illumina GAIIx	Phase_I	Q5I7T1	AG10B_HUMAN			3	1134	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	273					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.818G>A	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	a	19.66	3.869068	0.72065	.	.	ENSG00000175548	ENST00000308742	T	0.55930	0.49	3.23	3.23	0.37069	.	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82080	-0.0634	10	0.87932	D	0	.	12.7261	0.57173	0.0:0.0:1.0:0.0	.	273	Q5I7T1	AG10B_HUMAN	E	273	ENSP00000310120:G273E	ENSP00000310120:G273E	G	+	2	0	ALG10B	37000678	1.000000	0.71417	0.978000	0.43139	0.845000	0.48019	9.123000	0.94387	2.103000	0.63969	0.643000	0.83706	GGA		0.358	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		9	240	0	0	0	1	0	9	240				
SEPT10	151011	broad.mit.edu	37	2	110350690	110350690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:110350690G>A	ENST00000397712.2	-	2	415	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	SEPT10_ENST00000437928.1_5'UTR|SEPT10_ENST00000334001.6_5'UTR|SEPT10_ENST00000545389.1_Nonsense_Mutation_p.Q13*|AC011753.5_ENST00000425576.1_RNA|SEPT10_ENST00000356688.4_Nonsense_Mutation_p.Q13*|SEPT10_ENST00000397714.2_Intron|SEPT10_ENST00000415095.1_Nonsense_Mutation_p.Q13*	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	13					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						ATGTGAGACTGAAAGAGCTAA	0.328																																						ENST00000356688.4																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						c.(37-39)Cag>Tag		septin 10							109.0	103.0	105.0					2																	110350690		1853	4106	5959	SO:0001587	stop_gained	151011				cell cycle|cell division	septin complex	GTP binding	g.chr2:110350690G>A	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.37C>T	2.37:g.110350690G>A	ENSP00000380824:p.Gln13*		Somatic				SEPT10_ENST00000545389.1_Nonsense_Mutation_p.Q13*|SEPT10_ENST00000437928.1_5'UTR|SEPT10_ENST00000415095.1_Nonsense_Mutation_p.Q13*|SEPT10_ENST00000397712.2_Nonsense_Mutation_p.Q13*|SEPT10_ENST00000397714.2_Intron|SEPT10_ENST00000334001.6_5'UTR	p.Q13*			WXS	Illumina GAIIx	Phase_I	Q9P0V9	SEP10_HUMAN			2	352	-			13					B3KRQ9|Q86VP5|Q9HAH6	Nonsense_Mutation	SNP	ENST00000397712.2	37	c.37C>T	CCDS46383.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805576	0.31961	.	.	ENSG00000186522	ENST00000356688;ENST00000397712;ENST00000545389;ENST00000415095;ENST00000423520;ENST00000442746	.	.	.	3.67	3.67	0.42095	.	4.229880	0.00550	N	0.000245	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	11.1902	0.48681	0.0:0.0:1.0:0.0	.	.	.	.	X	13;13;13;13;13;4	.	ENSP00000349116:Q13X	Q	-	1	0	SEPT10	109707979	1.000000	0.71417	0.771000	0.31576	0.209000	0.24338	2.305000	0.43664	2.355000	0.79922	0.655000	0.94253	CAG		0.328	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710		10	262	0	0	0	1	0	10	262				
PADI3	51702	broad.mit.edu	37	1	17575701	17575701	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:17575701G>A	ENST00000375460.3	+	1	109	c.69G>A	c.(67-69)gtG>gtA	p.V23V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	23					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGCTGGCGTGGAGACCCTCG	0.612																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(67-69)gtG>gtA		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						151.0	129.0	136.0					1																	17575701		2203	4300	6503	SO:0001819	synonymous_variant	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17575701G>A	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.69G>A	1.37:g.17575701G>A			Somatic					p.V23V	NM_016233.2	NP_057317.2	WXS	Illumina GAIIx	Phase_I	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	1	109	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	23					Q58EY7|Q70SX5	Silent	SNP	ENST00000375460.3	37	c.69G>A	CCDS179.1																																																																																				0.612	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			27	213	0	0	0	1	0	27	213				
LILRB5	10990	broad.mit.edu	37	19	54758770	54758770	+	Silent	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:54758770G>C	ENST00000316219.5	-	6	1190	c.1083C>G	c.(1081-1083)gcC>gcG	p.A361A	LILRB5_ENST00000449561.2_Silent_p.A361A|LILRB5_ENST00000345866.6_Silent_p.A261A|LILRB5_ENST00000450632.1_Silent_p.A352A	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	361	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.A361A(1)|p.A352A(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCGGGGGATGGGCTGCCCCCT	0.552																																						ENST00000450632.1																			2	Substitution - coding silent(2)	p.A361A(1)|p.A352A(1)	kidney(2)	NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1054-1056)gcC>gcG		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							69.0	68.0	68.0					19																	54758770		2203	4300	6503	SO:0001819	synonymous_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54758770G>C	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1083C>G	19.37:g.54758770G>C			Somatic				LILRB5_ENST00000345866.6_Silent_p.A261A|LILRB5_ENST00000449561.2_Silent_p.A361A|LILRB5_ENST00000316219.5_Silent_p.A361A	p.A352A			WXS	Illumina GAIIx	Phase_I	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1133	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		361			Ig-like C2-type 4.		Q8N760	Silent	SNP	ENST00000316219.5	37	c.1056C>G	CCDS12885.1																																																																																				0.552	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			30	43	0	0	0	1	0	30	43				
TGFBR2	7048	broad.mit.edu	37	3	30713692	30713692	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:30713692G>A	ENST00000295754.5	+	4	1399	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	TGFBR2_ENST00000359013.4_Silent_p.R364R	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	339	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ACCTGACGCGGCATGTCATCA	0.612																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(1015-1017)cgG>cgA		transforming growth factor, beta receptor II (70/80kDa)							112.0	100.0	104.0					3																	30713692		2203	4300	6503	SO:0001819	synonymous_variant	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713692G>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1017G>A	3.37:g.30713692G>A			Somatic				TGFBR2_ENST00000359013.4_Silent_p.R364R	p.R339R	NM_003242.5	NP_003233.4	WXS	Illumina GAIIx	Phase_I	P37173	TGFR2_HUMAN			4	1399	+			339			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Silent	SNP	ENST00000295754.5	37	c.1017G>A	CCDS2648.1																																																																																				0.612	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			4	341	0	0	0	1	0	4	341				
ATP4A	495	broad.mit.edu	37	19	36045932	36045932	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:36045932C>T	ENST00000262623.3	-	16	2401	c.2373G>A	c.(2371-2373)ttG>ttA	p.L791L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	791					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TGTTCTTGGTCAATGTGTAGG	0.572																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2371-2373)ttG>ttA		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						317.0	241.0	267.0					19																	36045932		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36045932C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2373G>A	19.37:g.36045932C>T			Somatic					p.L791L	NM_000704.2	NP_000695.2	WXS	Illumina GAIIx	Phase_I	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		16	2401	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		791					O00738	Silent	SNP	ENST00000262623.3	37	c.2373G>A	CCDS12467.1																																																																																				0.572	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		5	381	0	0	0	1	0	5	381				
RBM41	55285	broad.mit.edu	37	X	106310925	106310925	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chrX:106310925T>A	ENST00000372479.3	-	7	1106		c.e7-2		RBM41_ENST00000372487.1_Splice_Site	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41								nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TCTCCTTATCTAAAAGAGAAA	0.308																																						ENST00000372487.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						c.e7-2		RNA binding motif protein 41							95.0	89.0	91.0					X																	106310925		2203	4299	6502	SO:0001630	splice_region_variant	55285						nucleotide binding|RNA binding	g.chrX:106310925T>A	BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"""RNA binding motif (RRM) containing"""	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.1076-2A>T	X.37:g.106310925T>A			Somatic				RBM41_ENST00000372479.3_Splice_Site		NM_001171080.1	NP_001164551.1	WXS	Illumina GAIIx	Phase_I	Q96IZ5	RBM41_HUMAN			7	1102	-								Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Splice_Site	SNP	ENST00000372479.3	37		CCDS14526.1	.	.	.	.	.	.	.	.	.	.	t	15.31	2.794760	0.50102	.	.	ENSG00000089682	ENST00000372487;ENST00000372479	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.755	0.46232	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBM41	106197581	1.000000	0.71417	0.998000	0.56505	0.703000	0.40648	6.005000	0.70716	1.809000	0.52856	0.417000	0.27973	.		0.308	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057819.1	NM_018301	Intron	4	68	0	0	0	1	0	4	68				
MFRP	83552	broad.mit.edu	37	11	119212284	119212284	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:119212284C>A	ENST00000530681.1	-	13	1858	c.1714G>T	c.(1714-1716)Gac>Tac	p.D572Y	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Missense_Mutation_p.D572Y|MFRP_ENST00000449574.2_Missense_Mutation_p.D572Y|MFRP_ENST00000360167.4_Missense_Mutation_p.D454Y|C1QTNF5_ENST00000525657.1_5'Flank|C1QTNF5_ENST00000528368.1_5'Flank	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	572	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D572Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GCTTCCAGGTCAGCTGCCTCT	0.662																																						ENST00000555262.1																			1	Substitution - Missense(1)	p.D572Y(1)	kidney(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18						c.(1714-1716)Gac>Tac		membrane frizzled-related protein							19.0	24.0	23.0					11																	119212284		2192	4284	6476	SO:0001583	missense	83552							g.chr11:119212284C>A	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1714G>T	11.37:g.119212284C>A	ENSP00000456533:p.Asp572Tyr		Somatic				MFRP_ENST00000449574.2_Missense_Mutation_p.D572Y|MFRP_ENST00000360167.4_Missense_Mutation_p.D454Y|MFRP_ENST00000530681.1_Missense_Mutation_p.D572Y|C1QTNF5_ENST00000445041.2_5'UTR	p.D572Y	NM_001278431.1	NP_001265360.1	WXS	Illumina GAIIx	Phase_I				BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	13	1873	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)						B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.1714G>T	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135261	0.56828	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.58506	0.33;0.33;0.33	4.22	3.29	0.37713	Frizzled domain (4);	0.272990	0.35646	N	0.003073	T	0.67126	0.2860	M	0.72624	2.21	0.32217	N	0.575737	D;D	0.65815	0.995;0.988	P;P	0.60789	0.879;0.853	T	0.72293	-0.4336	10	0.56958	D	0.05	-9.4655	7.2081	0.25919	0.0:0.734:0.1723:0.0936	.	454;572	B4DHN8;Q9BY79	.;MFRP_HUMAN	Y	572;572;454	ENSP00000450509:D572Y;ENSP00000391664:D572Y;ENSP00000353291:D454Y	ENSP00000353291:D454Y	D	-	1	0	MFRP	118717494	0.998000	0.40836	0.992000	0.48379	0.661000	0.39034	3.428000	0.52792	0.942000	0.37525	0.561000	0.74099	GAC		0.662	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		3	4	1	0	0.115264	1	0.11638	3	4				
KRBA1	84626	broad.mit.edu	37	7	149418599	149418599	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:149418599G>A	ENST00000485033.2	+	4	439	c.439G>A	c.(439-441)Ggg>Agg	p.G147R	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.G147R|KRBA1_ENST00000255992.10_Missense_Mutation_p.G147R			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	147										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AACTGGTGACGGGGTCCAGGG	0.637																																						ENST00000255992.10																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(439-441)Ggg>Agg		KRAB-A domain containing 1							22.0	25.0	24.0					7																	149418599		2056	4203	6259	SO:0001583	missense	84626							g.chr7:149418599G>A	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.439G>A	7.37:g.149418599G>A	ENSP00000420112:p.Gly147Arg		Somatic				KRBA1_ENST00000485033.2_Missense_Mutation_p.G147R|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.G147R	p.G147R	NM_032534.2	NP_115923.2	WXS	Illumina GAIIx	Phase_I	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	838	+	Melanoma(164;0.165)|Ovarian(565;0.177)		147					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37	c.439G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.486|2.486	-0.318562|-0.318562	0.05386|0.05386	.|.	.|.	ENSG00000133619|ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033|ENST00000467333	T;T;T|.	0.30448|.	1.53;1.53;1.53|.	3.43|3.43	-6.73|-6.73	0.01749|0.01749	.|.	1.117170|.	0.06953|.	N|.	0.815001|.	T|T	0.11324|0.11324	0.0276|0.0276	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.15141|.	0.012|.	B|.	0.10450|.	0.005|.	T|T	0.20140|0.20140	-1.0284|-1.0284	10|5	0.18276|.	T|.	0.48|.	0.0653|0.0653	0.9414|0.9414	0.01356|0.01356	0.3698:0.27:0.2154:0.1448|0.3698:0.27:0.2154:0.1448	.|.	147|.	A5PL33|.	KRBA1_HUMAN|.	R|Q	147|56	ENSP00000255992:G147R;ENSP00000317165:G147R;ENSP00000420112:G147R|.	ENSP00000255992:G147R|.	G|R	+|+	1|2	0|0	KRBA1|KRBA1	149049532|149049532	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.352000|-0.352000	0.07701|0.07701	-1.669000|-1.669000	0.01470|0.01470	0.591000|0.591000	0.81541|0.81541	GGG|CGG		0.637	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		3	27	0	0	0	1	0	3	27				
FMO5	2330	broad.mit.edu	37	1	146672922	146672922	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:146672922T>A	ENST00000254090.4	-	7	1383	c.995A>T	c.(994-996)tAt>tTt	p.Y332F	FMO5_ENST00000441068.2_Missense_Mutation_p.Y332F|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000369272.3_Intron	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	332						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.Y332F(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GTCAAAGCTATAGCCTGTGGC	0.438																																						ENST00000254090.4																			2	Substitution - Missense(2)	p.Y332F(2)	kidney(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25						c.(994-996)tAt>tTt		flavin containing monooxygenase 5							104.0	99.0	101.0					1																	146672922		2203	4300	6503	SO:0001583	missense	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146672922T>A	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.995A>T	1.37:g.146672922T>A	ENSP00000254090:p.Tyr332Phe		Somatic				RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000369272.3_Intron|FMO5_ENST00000441068.2_Missense_Mutation_p.Y332F	p.Y332F	NM_001461.2	NP_001452.2	WXS	Illumina GAIIx	Phase_I	P49326	FMO5_HUMAN			7	1383	-	all_hematologic(923;0.0487)		332					B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	37	c.995A>T	CCDS926.1	.	.	.	.	.	.	.	.	.	.	.	28.9	4.960181	0.92791	.	.	ENSG00000131781	ENST00000441068;ENST00000254090	T;T	0.62105	0.05;0.05	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.72700	0.3493	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.97110	1.0;0.988	T	0.74182	-0.3748	10	0.46703	T	0.11	-17.2219	14.7743	0.69713	0.0:0.0:0.0:1.0	.	332;332	P49326;C9JJD1	FMO5_HUMAN;.	F	332	ENSP00000416011:Y332F;ENSP00000254090:Y332F	ENSP00000254090:Y332F	Y	-	2	0	FMO5	145139546	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.011000	0.88624	2.371000	0.80710	0.533000	0.62120	TAT		0.438	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		25	287	0	0	0	1	0	25	287				
CFAP61	26074	broad.mit.edu	37	20	20071504	20071504	+	Missense_Mutation	SNP	G	G	A	rs371793125		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:20071504G>A	ENST00000245957.5	+	7	659	c.583G>A	c.(583-585)Gat>Aat	p.D195N	C20orf26_ENST00000451767.2_Missense_Mutation_p.D195N|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.D195N|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		195								p.D195N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGACCATGACGATCTCATGCC	0.438																																						ENST00000245957.5																			1	Substitution - Missense(1)	p.D195N(1)	lung(1)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(583-585)Gat>Aat		chromosome 20 open reading frame 26		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	199.0	183.0	189.0		583,583	3.6	0.8	20		189	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C20orf26	NM_015585.3,NM_001167816.1	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	195/1238,195/471	20071504	1,13005	2203	4300	6503	SO:0001583	missense	26074							g.chr20:20071504G>A																												ENST00000245957.5:c.583G>A	20.37:g.20071504G>A	ENSP00000245957:p.Asp195Asn		Somatic				C20orf26_ENST00000377306.1_Missense_Mutation_p.D195N|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.D195N	p.D195N	NM_015585.3	NP_056400.3	WXS	Illumina GAIIx	Phase_I	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	7	659	+			195					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.583G>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530430	0.27387	0.0	1.16E-4	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767;ENST00000472660	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.62	3.61	0.41365	Acyl-CoA N-acyltransferase (2);	0.170524	0.49916	N	0.000121	T	0.39655	0.1086	M	0.78456	2.415	0.80722	D	1	B;P;P;B	0.49961	0.056;0.93;0.852;0.032	B;B;B;B	0.41946	0.018;0.371;0.202;0.018	T	0.38845	-0.9642	10	0.62326	D	0.03	.	10.2391	0.43301	0.0774:0.1352:0.7874:0.0	.	195;195;149;195	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	N	149;195;195;195;195;195;91	ENSP00000345553:D149N;ENSP00000245957:D195N;ENSP00000366521:D195N;ENSP00000414537:D195N;ENSP00000420498:D91N	ENSP00000245957:D195N	D	+	1	0	C20orf26	20019504	1.000000	0.71417	0.766000	0.31476	0.075000	0.17131	3.034000	0.49751	0.663000	0.31027	-0.150000	0.13652	GAT		0.438	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			37	1052	0	0	0	1	0	37	1052				
SLC25A17	10478	broad.mit.edu	37	22	41190586	41190586	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:41190586T>A	ENST00000435456.2	-	3	249		c.e3-2		SLC25A17_ENST00000542412.1_Intron|SLC25A17_ENST00000544408.1_Splice_Site|SLC25A17_ENST00000491545.1_Splice_Site	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17						ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TCTCATCAACTACAAGACCAA	0.383																																						ENST00000435456.2																			0				central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						c.e3-2		solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17							124.0	97.0	106.0					22																	41190586		2203	4300	6503	SO:0001630	splice_region_variant	10478				fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding	g.chr22:41190586T>A	Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"""Solute carriers"""	10987	protein-coding gene	gene with protein product	"""peroxisomal membrane protein (34kD)"""	606795	"""solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"""			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.116-2A>T	22.37:g.41190586T>A			Somatic				SLC25A17_ENST00000542412.1_Intron|SLC25A17_ENST00000544408.1_Splice_Site|SLC25A17_ENST00000491545.1_Splice_Site		NM_006358.2	NP_006349.1	WXS	Illumina GAIIx	Phase_I	O43808	PM34_HUMAN			3	249	-								A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Splice_Site	SNP	ENST00000435456.2	37		CCDS14005.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516712	0.64634	.	.	ENSG00000100372	ENST00000435456;ENST00000544408;ENST00000434185	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3384	0.55081	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC25A17	39520532	1.000000	0.71417	0.987000	0.45799	0.904000	0.53231	5.091000	0.64505	2.162000	0.67917	0.455000	0.32223	.		0.383	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	NM_006358	Intron	4	175	0	0	0	1	0	4	175				
COL6A3	1293	broad.mit.edu	37	2	238285451	238285451	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:238285451G>A	ENST00000295550.4	-	7	3486	c.3034C>T	c.(3034-3036)Ctc>Ttc	p.L1012F	COL6A3_ENST00000392003.2_Missense_Mutation_p.L605F|COL6A3_ENST00000346358.4_Missense_Mutation_p.L812F|COL6A3_ENST00000353578.4_Missense_Mutation_p.L806F|COL6A3_ENST00000392004.3_Missense_Mutation_p.L806F|COL6A3_ENST00000472056.1_Missense_Mutation_p.L405F|COL6A3_ENST00000347401.3_Missense_Mutation_p.L811F|COL6A3_ENST00000409809.1_Missense_Mutation_p.L806F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1012	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GATTTTAAGAGATTCACTATC	0.493																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3034-3036)Ctc>Ttc		collagen, type VI, alpha 3							225.0	227.0	227.0					2																	238285451		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238285451G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3034C>T	2.37:g.238285451G>A	ENSP00000295550:p.Leu1012Phe		Somatic				COL6A3_ENST00000472056.1_Missense_Mutation_p.L405F|COL6A3_ENST00000353578.4_Missense_Mutation_p.L806F|COL6A3_ENST00000409809.1_Missense_Mutation_p.L806F|COL6A3_ENST00000347401.3_Missense_Mutation_p.L811F|COL6A3_ENST00000392003.2_Missense_Mutation_p.L605F|COL6A3_ENST00000346358.4_Missense_Mutation_p.L812F|COL6A3_ENST00000392004.3_Missense_Mutation_p.L806F	p.L1012F	NM_004369.3	NP_004360.2	WXS	Illumina GAIIx	Phase_I	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	7	3486	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1012			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3034C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473664	0.43942	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.55	4.64	0.57946	.	0.000000	0.47455	D	0.000235	T	0.48003	0.1476	L	0.52364	1.645	0.45806	D	0.998683	D;D;B;D;D;D	0.89917	1.0;0.999;0.427;0.999;1.0;1.0	D;D;B;D;D;D	0.80764	0.973;0.991;0.17;0.987;0.994;0.982	T	0.38478	-0.9659	10	0.20519	T	0.43	.	8.9081	0.35537	0.0782:0.1505:0.7713:0.0	.	812;405;605;806;806;1012	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	F	1012;811;806;405;806;812;806;605	ENSP00000295550:L1012F;ENSP00000315609:L811F;ENSP00000315873:L806F;ENSP00000418285:L405F;ENSP00000386844:L806F;ENSP00000295546:L812F;ENSP00000375861:L806F;ENSP00000375860:L605F	ENSP00000295550:L1012F	L	-	1	0	COL6A3	237950190	1.000000	0.71417	0.782000	0.31804	0.319000	0.28217	2.347000	0.44036	1.276000	0.44395	0.655000	0.94253	CTC		0.493	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		8	1041	0	0	0	1	0	8	1041				
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000394173.4_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.R105W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567																																						ENST00000315599.7																			4	Substitution - Missense(4)	p.R129W(4)	endometrium(4)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(385-387)Cgg>Tgg		CD209 molecule							89.0	92.0	91.0					19																	7810767		2202	4297	6499	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810767G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.385C>T	19.37:g.7810767G>A	ENSP00000315477:p.Arg129Trp		Somatic				CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W	p.R129W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	WXS	Illumina GAIIx	Phase_I	Q9NNX6	CD209_HUMAN			4	407	-			129			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.385C>T	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167766	0.38315	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;2.27	1.37	0.149	0.14863	.	.	.	.	.	T	0.24236	0.0587	L	0.28192	0.835	0.09310	N	1	B;B;D;D;B;D;B;B;B;B	0.64830	0.021;0.005;0.968;0.994;0.012;0.985;0.007;0.011;0.01;0.012	B;B;P;P;B;P;B;B;B;B	0.54815	0.008;0.008;0.534;0.761;0.005;0.663;0.002;0.006;0.003;0.009	T	0.12016	-1.0564	9	0.56958	D	0.05	.	4.5792	0.12250	0.0:0.0:0.6254:0.3746	.	129;105;85;85;105;129;129;105;105;129	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	W	129;129;105;85;129;85;113	ENSP00000315477:R129W;ENSP00000346373:R129W;ENSP00000315407:R105W;ENSP00000204801:R85W;ENSP00000301357:R85W	ENSP00000204801:R85W	R	-	1	2	CD209	7716767	0.000000	0.05858	0.010000	0.14722	0.462000	0.32619	-0.010000	0.12743	0.103000	0.17682	0.449000	0.29647	CGG		0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		7	603	0	0	0	1	0	7	603				
TLN2	83660	broad.mit.edu	37	15	63000819	63000819	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:63000819G>C	ENST00000561311.1	+	20	2521	c.2291G>C	c.(2290-2292)aGt>aCt	p.S764T	TLN2_ENST00000306829.6_Missense_Mutation_p.S764T			Q9Y4G6	TLN2_HUMAN	talin 2	764					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S764T(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACTACCGATAGTGAGCTCCTG	0.652																																						ENST00000561311.1																			1	Substitution - Missense(1)	p.S764T(1)	kidney(1)	NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(2290-2292)aGt>aCt		talin 2							56.0	49.0	52.0					15																	63000819		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63000819G>C	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.2291G>C	15.37:g.63000819G>C	ENSP00000453508:p.Ser764Thr		Somatic				TLN2_ENST00000306829.6_Missense_Mutation_p.S764T	p.S764T			WXS	Illumina GAIIx	Phase_I	Q9Y4G6	TLN2_HUMAN			20	2521	+			764					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.2291G>C	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	g	0.359	-0.940288	0.02322	.	.	ENSG00000171914	ENST00000306829	T	0.67865	-0.29	4.96	0.297	0.15762	.	0.577627	0.20403	N	0.093006	T	0.44138	0.1279	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21484	-1.0244	10	0.15952	T	0.53	0.1218	12.1616	0.54107	0.0:0.5016:0.3107:0.1877	.	764	Q9Y4G6	TLN2_HUMAN	T	764	ENSP00000303476:S764T	ENSP00000303476:S764T	S	+	2	0	TLN2	60788111	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.031000	0.12287	0.169000	0.19679	0.655000	0.94253	AGT		0.652	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			28	46	0	0	0	1	0	28	46				
DENND4B	9909	broad.mit.edu	37	1	153915470	153915470	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:153915470C>T	ENST00000361217.4	-	3	872	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	152	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGCCCCCTCTGCTGCCCGC	0.662																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(454-456)Gag>Aag		DENN/MADD domain containing 4B							38.0	45.0	43.0					1																	153915470		1961	4131	6092	SO:0001583	missense	9909							g.chr1:153915470C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.454G>A	1.37:g.153915470C>T	ENSP00000354597:p.Glu152Lys		Somatic					p.E152K	NM_014856.2	NP_055671.2	WXS	Illumina GAIIx	Phase_I	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		3	872	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		152			MABP.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.454G>A	CCDS44228.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.87|16.87	3.241135|3.241135	0.58995|0.58995	.|.	.|.	ENSG00000198837|ENSG00000198837	ENST00000361217;ENST00000368646|ENST00000472932	T;T|.	0.17370|.	2.28;2.28|.	4.84|4.84	4.84|4.84	0.62591|0.62591	MABP domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.47173|0.47173	0.1431|0.1431	L|L	0.34521|0.34521	1.04|1.04	0.50467|0.50467	D|D	0.999876|0.999876	P|.	0.51791|.	0.948|.	P|.	0.44518|.	0.452|.	T|T	0.40757|0.40757	-0.9546|-0.9546	9|5	0.23302|.	T|.	0.38|.	-5.2102|-5.2102	16.8579|16.8579	0.86010|0.86010	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	152|.	O75064|.	DEN4B_HUMAN|.	K|K	152;163|57	ENSP00000354597:E152K;ENSP00000357635:E163K|.	ENSP00000354597:E152K|.	E|R	-|-	1|2	0|0	DENND4B|DENND4B	152182094|152182094	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.029000|3.029000	0.49712|0.49712	2.496000|2.496000	0.84212|0.84212	0.563000|0.563000	0.77884|0.77884	GAG|AGA		0.662	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		10	58	0	0	0	1	0	10	58				
CAST	831	broad.mit.edu	37	5	96101025	96101025	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:96101025T>A	ENST00000341926.3	+	24	1946	c.1784T>A	c.(1783-1785)gTa>gAa	p.V595E	ERAP1_ENST00000296754.3_Intron|CAST_ENST00000511049.1_Missense_Mutation_p.V580E|CAST_ENST00000504465.1_Missense_Mutation_p.V523E|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000515663.1_Missense_Mutation_p.V318E|CAST_ENST00000508579.1_Missense_Mutation_p.V310E|CAST_ENST00000511782.1_Missense_Mutation_p.V581E|CAST_ENST00000508608.1_Missense_Mutation_p.V641E|CAST_ENST00000508830.1_Missense_Mutation_p.V678E|CAST_ENST00000509903.1_Missense_Mutation_p.V560E|CAST_ENST00000359176.4_Missense_Mutation_p.V659E|CAST_ENST00000325674.7_Missense_Mutation_p.V643E|CAST_ENST00000395812.2_Missense_Mutation_p.V637E|CAST_ENST00000395813.1_Missense_Mutation_p.V678E|CAST_ENST00000309190.5_Missense_Mutation_p.V573E|CAST_ENST00000510756.1_Missense_Mutation_p.V656E|CAST_ENST00000338252.3_Missense_Mutation_p.V582E			P20810	ICAL_HUMAN	calpastatin	595					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GAAGATAAAGTAAAGGTaaaa	0.348																																						ENST00000395813.1																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22						c.(2032-2034)gTa>gAa		calpastatin							52.0	52.0	52.0					5																	96101025		2203	4300	6503	SO:0001583	missense	831						calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	g.chr5:96101025T>A	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.1784T>A	5.37:g.96101025T>A	ENSP00000339914:p.Val595Glu		Somatic				ERAP1_ENST00000296754.3_Intron|CAST_ENST00000395812.2_Missense_Mutation_p.V637E|CAST_ENST00000325674.7_Missense_Mutation_p.V643E|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000515663.1_Missense_Mutation_p.V318E|CAST_ENST00000309190.5_Missense_Mutation_p.V573E|CAST_ENST00000338252.3_Missense_Mutation_p.V582E|CAST_ENST00000341926.3_Missense_Mutation_p.V595E|CAST_ENST00000359176.4_Missense_Mutation_p.V659E|CAST_ENST00000511782.1_Missense_Mutation_p.V581E|CAST_ENST00000511049.1_Missense_Mutation_p.V580E|CAST_ENST00000510756.1_Missense_Mutation_p.V656E|CAST_ENST00000504465.1_Missense_Mutation_p.V523E|CAST_ENST00000508579.1_Missense_Mutation_p.V310E|CAST_ENST00000509903.1_Missense_Mutation_p.V560E|CAST_ENST00000508830.1_Missense_Mutation_p.V678E|CAST_ENST00000508608.1_Missense_Mutation_p.V641E	p.V678E			WXS	Illumina GAIIx	Phase_I	P20810	ICAL_HUMAN		all cancers(79;6.85e-15)	26	2219	+		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)	595					B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	37	c.2033T>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	22.0|22.0|22.0	4.234820|4.234820|4.234820	0.79800|0.79800|0.79800	.|.|.	.|.|.	ENSG00000153113|ENSG00000153113|ENSG00000153113	ENST00000510500|ENST00000338252;ENST00000508830;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508579;ENST00000515663|ENST00000437034	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	.|0.23950|.	.|1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88|.	5.8|5.8|5.8	5.8|5.8|5.8	0.92144|0.92144|0.92144	.|.|.	.|0.316482|.	.|0.31472|.	.|N|.	.|0.007594|.	T|T|.	0.80686|0.80686|.	0.4670|0.4670|.	M|M|M	0.89414|0.89414|0.89414	3.03|3.03|3.03	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	.|0.89917|.	.|1.0;0.999;0.999;0.999;0.999;0.999;0.999;0.999;1.0;0.999;0.999;0.999;0.999;0.998;1.0;0.999|.	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	.|0.91635|.	.|0.999;0.996;0.967;0.984;0.967;0.992;0.989;0.999;0.998;0.989;0.998;0.989;0.999;0.994;0.981;0.999|.	D|D|.	0.84109|0.84109|.	0.0400|0.0400|.	5|10|.	.|0.40728|.	.|T|.	.|0.16|.	-10.4551|-10.4551|-10.4551	15.1375|15.1375|15.1375	0.72579|0.72579|0.72579	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|523;641;318;346;317;580;560;573;554;595;643;637;659;656;678;582|.	.|E9PDE4;B7Z468;E7EQA0;Q86YM9;E7EPY6;E7EVY3;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2|.	.|.;.;.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.|.	R|E|K	351|582;678;678;659;643;637;656;641;595;580;573;595;523;560;581;310;318|347	.|ENSP00000343421:V582E;ENSP00000425721:V678E;ENSP00000379158:V678E;ENSP00000352098:V659E;ENSP00000320319:V643E;ENSP00000379157:V637E;ENSP00000422176:V656E;ENSP00000422677:V641E;ENSP00000339914:V595E;ENSP00000421130:V580E;ENSP00000312523:V573E;ENSP00000422325:V595E;ENSP00000425670:V523E;ENSP00000426946:V560E;ENSP00000423638:V581E;ENSP00000425787:V310E;ENSP00000422929:V318E|.	.|ENSP00000312523:V573E|.	S|V|X	+|+|+	3|2|1	2|0|0	CAST|CAST|CAST	96126781|96126781|96126781	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.968000|0.968000|0.968000	0.65278|0.65278|0.65278	4.956000|4.956000|4.956000	0.63645|0.63645|0.63645	2.209000|2.209000|2.209000	0.71365|0.71365|0.71365	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	AGT|GTA|TAA		0.348	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062		7	95	0	0	0	1	0	7	95				
RASEF	158158	broad.mit.edu	37	9	85637266	85637266	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:85637266A>T	ENST00000376447.3	-	3	914	c.654T>A	c.(652-654)caT>caA	p.H218Q		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	218					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCCGTGTCTTATGTTCTGCAG	0.493																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(652-654)caT>caA		RAS and EF-hand domain containing							275.0	234.0	248.0					9																	85637266		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85637266A>T	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.654T>A	9.37:g.85637266A>T	ENSP00000365630:p.His218Gln		Somatic					p.H218Q	NM_152573.2	NP_689786.2	WXS	Illumina GAIIx	Phase_I	Q8IZ41	RASEF_HUMAN			3	914	-			218					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.654T>A	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.805273	0.31961	.	.	ENSG00000165105	ENST00000376447	T	0.58506	0.33	5.88	1.48	0.22813	.	0.314947	0.36167	N	0.002746	T	0.29256	0.0728	N	0.08118	0	0.80722	D	1	B	0.14438	0.01	B	0.06405	0.002	T	0.04930	-1.0917	10	0.49607	T	0.09	.	2.511	0.04657	0.4291:0.115:0.3396:0.1163	.	218	Q8IZ41	RASEF_HUMAN	Q	218	ENSP00000365630:H218Q	ENSP00000365630:H218Q	H	-	3	2	RASEF	84827086	0.998000	0.40836	0.996000	0.52242	0.951000	0.60555	0.428000	0.21395	0.246000	0.21394	0.533000	0.62120	CAT		0.493	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		5	312	0	0	0	1	0	5	312				
HIVEP2	3097	broad.mit.edu	37	6	143081369	143081369	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:143081369G>C	ENST00000367604.1	-	8	6695	c.6056C>G	c.(6055-6057)cCt>cGt	p.P2019R	HIVEP2_ENST00000367603.2_Missense_Mutation_p.P2019R|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2019R			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2019					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P2019R(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CATACAACTAGGTATGTCCAA	0.483																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			1	Substitution - Missense(1)	p.P2019R(1)	kidney(1)	NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(6055-6057)cCt>cGt		human immunodeficiency virus type I enhancer binding protein 2							277.0	255.0	262.0					6																	143081369		1973	4167	6140	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143081369G>C	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6056C>G	6.37:g.143081369G>C	ENSP00000356576:p.Pro2019Arg		Somatic				HIVEP2_ENST00000367604.1_Missense_Mutation_p.P2019R|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2019R	p.P2019R	NM_006734.3	NP_006725.3	WXS	Illumina GAIIx	Phase_I	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	6798	-			2019					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.6056C>G	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247245	0.80024	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.03496	3.91;3.91;3.91	6.07	6.07	0.98685	.	0.046565	0.85682	D	0.000000	T	0.07548	0.0190	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.39981	-0.9587	10	0.87932	D	0	-18.3497	20.6525	0.99598	0.0:0.0:1.0:0.0	.	2019	P31629	ZEP2_HUMAN	R	2019	ENSP00000356576:P2019R;ENSP00000356575:P2019R;ENSP00000012134:P2019R	ENSP00000012134:P2019R	P	-	2	0	HIVEP2	143123062	1.000000	0.71417	0.778000	0.31720	0.984000	0.73092	7.282000	0.78630	2.890000	0.99128	0.585000	0.79938	CCT		0.483	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			349	247	0	0	0	1	0	349	247				
ADAMTS18	170692	broad.mit.edu	37	16	77327081	77327081	+	Silent	SNP	G	G	A	rs373173918		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:77327081G>A	ENST00000282849.5	-	20	3499	c.3081C>T	c.(3079-3081)ccC>ccT	p.P1027P	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1027	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACTGGCTCTCGGGGAGGGTTT	0.567																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(3079-3081)ccC>ccT		ADAM metallopeptidase with thrombospondin type 1 motif, 18		C		0,4396		0,0,2198	85.0	82.0	83.0		3081	-12.1	0.0	16		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS18	NM_199355.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		1027/1222	77327081	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77327081G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3081C>T	16.37:g.77327081G>A			Somatic					p.P1027P	NM_199355.2	NP_955387.1	WXS	Illumina GAIIx	Phase_I	Q8TE60	ATS18_HUMAN			20	3499	-			1027			TSP type-1 3.		Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	c.3081C>T	CCDS10926.1																																																																																				0.567	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			22	232	0	0	0	1	0	22	232				
WDR19	57728	broad.mit.edu	37	4	39196168	39196168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:39196168C>T	ENST00000399820.3	+	5	449	c.295C>T	c.(295-297)Caa>Taa	p.Q99*	WDR19_ENST00000506503.1_Nonsense_Mutation_p.Q99*|WDR19_ENST00000288634.7_Intron	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	99					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TTACAGGGATCAAATGTCTTT	0.313																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(295-297)Caa>Taa		WD repeat domain 19							107.0	101.0	103.0					4																	39196168		1827	4072	5899	SO:0001587	stop_gained	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39196168C>T	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.295C>T	4.37:g.39196168C>T	ENSP00000382717:p.Gln99*		Somatic				WDR19_ENST00000506503.1_Nonsense_Mutation_p.Q99*|WDR19_ENST00000288634.7_Intron	p.Q99*	NM_025132.3	NP_079408.3	WXS	Illumina GAIIx	Phase_I	Q8NEZ3	WDR19_HUMAN			5	449	+			99					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Nonsense_Mutation	SNP	ENST00000399820.3	37	c.295C>T	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888714	0.72524	.	.	ENSG00000157796	ENST00000399820;ENST00000509560;ENST00000506503;ENST00000399836	.	.	.	5.58	4.72	0.59763	.	0.106352	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-9.5073	10.5745	0.45219	0.0:0.6791:0.2518:0.0691	.	.	.	.	X	99;40;99;98	.	ENSP00000382717:Q99X	Q	+	1	0	WDR19	38872563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.829000	0.55760	1.300000	0.44818	0.655000	0.94253	CAA		0.313	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			3	20	0	0	0	1	0	3	20				
HKR1	284459	broad.mit.edu	37	19	37854575	37854575	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:37854575G>A	ENST00000324411.4	+	6	2147	c.1878G>A	c.(1876-1878)caG>caA	p.Q626Q	HKR1_ENST00000589392.1_Silent_p.Q608Q|HKR1_ENST00000544914.1_Silent_p.Q353Q|HKR1_ENST00000392153.3_Silent_p.Q607Q|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000591471.1_Silent_p.Q353Q|HKR1_ENST00000541583.2_Silent_p.Q565Q	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	626					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTAGACACCAGAGGACACATT	0.517																																						ENST00000591471.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1057-1059)caG>caA		HKR1, GLI-Kruppel zinc finger family member							73.0	74.0	74.0					19																	37854575		2203	4300	6503	SO:0001819	synonymous_variant	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37854575G>A	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1878G>A	19.37:g.37854575G>A			Somatic				HKR1_ENST00000589392.1_Silent_p.Q608Q|HKR1_ENST00000392153.3_Silent_p.Q607Q|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_Silent_p.Q353Q|HKR1_ENST00000541583.2_Silent_p.Q565Q|HKR1_ENST00000324411.4_Silent_p.Q626Q	p.Q353Q			WXS	Illumina GAIIx	Phase_I	P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		9	2700	+			626					A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Silent	SNP	ENST00000324411.4	37	c.1059G>A	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	G	6.270	0.417868	0.11870	.	.	ENSG00000181666	ENST00000542144	.	.	.	2.96	0.68	0.17980	.	.	.	.	.	T	0.52058	0.1711	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.44065	-0.9352	5	0.40728	T	0.16	.	3.5589	0.07874	0.2265:0.0:0.5741:0.1993	.	.	.	.	K	661	.	ENSP00000440633:R661K	R	+	2	0	HKR1	42546415	0.000000	0.05858	0.996000	0.52242	0.989000	0.77384	-0.661000	0.05311	0.122000	0.18314	-0.145000	0.13849	AGA		0.517	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		12	241	0	0	0	1	0	12	241				
CHKB	1120	broad.mit.edu	37	22	51018846	51018846	+	Splice_Site	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:51018846C>T	ENST00000406938.2	-	6	895		c.e6-1		CPT1B_ENST00000405237.3_5'Flank|CHKB-CPT1B_ENST00000452668.1_5'Flank|CHKB_ENST00000463053.1_Splice_Site|CHKB-CPT1B_ENST00000453634.1_5'Flank|CHKB-AS1_ENST00000380711.3_RNA|CPT1B_ENST00000434492.2_5'Flank|CPT1B_ENST00000457250.1_5'Flank|CPT1B_ENST00000440709.1_5'Flank|CPT1B_ENST00000360719.2_5'Flank|CPT1B_ENST00000312108.7_5'Flank|CPT1B_ENST00000395650.2_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta						CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	TAGTAACTTCCTACAGGGGTA	0.547																																						ENST00000406938.2																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15						c.e6-1		choline kinase beta	Choline(DB00122)						158.0	162.0	161.0					22																	51018846		2203	4300	6503	SO:0001630	splice_region_variant	1120				phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr22:51018846C>T	AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"""choline kinase-like"""	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.678-1G>A	22.37:g.51018846C>T			Somatic				CHKB_ENST00000463053.1_Splice_Site		NM_005198.4	NP_005189.2	WXS	Illumina GAIIx	Phase_I	Q9Y259	CHKB_HUMAN		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	6	895	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)						A0PJM6|Q13388	Splice_Site	SNP	ENST00000406938.2	37		CCDS14099.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192904	0.38707	.	.	ENSG00000100288	ENST00000406938	.	.	.	4.95	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.955	0.35812	0.0:0.8997:0.0:0.1003	.	.	.	.	.	-1	.	.	.	-	.	.	CHKB	49365712	1.000000	0.71417	0.997000	0.53966	0.505000	0.33919	6.371000	0.73119	1.305000	0.44909	0.561000	0.74099	.		0.547	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317267.3	NM_005198	Intron	13	101	0	0	0	1	0	13	101				
CSHL1	1444	broad.mit.edu	37	17	61987236	61987236	+	Missense_Mutation	SNP	C	C	G	rs568422908		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:61987236C>G	ENST00000309894.5	-	5	503	c.504G>C	c.(502-504)caG>caC	p.Q168H	CSHL1_ENST00000561003.1_Missense_Mutation_p.D170H|CSHL1_ENST00000450719.3_Missense_Mutation_p.D159H|CSHL1_ENST00000438387.2_Missense_Mutation_p.Q85H|CSHL1_ENST00000346606.6_Missense_Mutation_p.Q74H|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Missense_Mutation_p.Q106H	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	168						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						GCTTGAGGGTCTGCCCAGTCA	0.547																																						ENST00000450719.3																			0				endometrium(3)|lung(6)	9						c.(475-477)Gac>Cac		chorionic somatomammotropin hormone-like 1							187.0	165.0	172.0					17																	61987236		2203	4300	6503	SO:0001583	missense	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61987236C>G	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.504G>C	17.37:g.61987236C>G	ENSP00000309524:p.Gln168His		Somatic				CSHL1_ENST00000309894.5_Missense_Mutation_p.Q168H|CSHL1_ENST00000561003.1_Missense_Mutation_p.D170H|CSHL1_ENST00000259003.10_Missense_Mutation_p.Q106H|CSHL1_ENST00000438387.2_Missense_Mutation_p.Q85H|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Missense_Mutation_p.Q74H	p.D159H			WXS	Illumina GAIIx	Phase_I	Q14406	CSHL_HUMAN			3	712	-			0					D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	ENST00000309894.5	37	c.475G>C	CCDS11652.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	2.613|2.613	-0.290324|-0.290324	0.05568|0.05568	.|.	.|.	ENSG00000204414|ENSG00000204414	ENST00000450719|ENST00000309894;ENST00000438387;ENST00000259003;ENST00000346606	.|D;D;D	.|0.89050	.|-2.46;-2.46;-2.46	3.6|3.6	2.61|2.61	0.31194|0.31194	.|Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.|2.243020	.|0.02435	.|N	.|0.084018	D|D	0.89577|0.89577	0.6755|0.6755	M|M	0.70595|0.70595	2.14|2.14	0.22500|0.22500	N|N	0.999045|0.999045	.|B;B;B;B	.|0.14805	.|0.005;0.011;0.007;0.005	.|B;B;B;B	.|0.14023	.|0.005;0.01;0.007;0.005	T|T	0.73372|0.73372	-0.4003|-0.4003	5|10	.|0.66056	.|D	.|0.02	.|.	11.0373|11.0373	0.47808|0.47808	0.0:0.6353:0.3647:0.0|0.0:0.6353:0.3647:0.0	.|.	.|74;85;168;145	.|Q14406-4;Q14406-3;Q14406;Q14406-2	.|.;.;CSHL_HUMAN;.	H|H	248|168;85;163;74	.|ENSP00000309524:Q168H;ENSP00000402632:Q85H;ENSP00000316360:Q74H	.|ENSP00000259003:Q163H	D|Q	-|-	1|3	0|2	GH1|GH1	59340968|59340968	0.987000|0.987000	0.35691|0.35691	0.874000|0.874000	0.34290|0.34290	0.004000|0.004000	0.04260|0.04260	1.531000|1.531000	0.36018|0.36018	0.641000|0.641000	0.30601|0.30601	-0.680000|-0.680000	0.03767|0.03767	GAC|CAG		0.547	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		15	464	0	0	0	1	0	15	464				
L1TD1	54596	broad.mit.edu	37	1	62676204	62676204	+	Silent	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:62676204T>A	ENST00000498273.1	+	4	2053	c.1758T>A	c.(1756-1758)ctT>ctA	p.L586L	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	586										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TCACCAAACTTAAGAAAACAG	0.368																																						ENST00000498273.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(1756-1758)ctT>ctA		LINE-1 type transposase domain containing 1							48.0	49.0	49.0					1																	62676204		2203	4300	6503	SO:0001819	synonymous_variant	54596							g.chr1:62676204T>A	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1758T>A	1.37:g.62676204T>A			Somatic					p.L586L	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	WXS	Illumina GAIIx	Phase_I	Q5T7N2	LITD1_HUMAN			4	2053	+			586					Q8NDA1|Q9NUV8|Q9NV78	Silent	SNP	ENST00000498273.1	37	c.1758T>A	CCDS619.1																																																																																				0.368	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		6	125	0	0	0	1	0	6	125				
NCKAP5	344148	broad.mit.edu	37	2	133541011	133541011	+	Missense_Mutation	SNP	C	C	T	rs371372513		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:133541011C>T	ENST00000409261.1	-	14	3746	c.3373G>A	c.(3373-3375)Gcc>Acc	p.A1125T	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1125T|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1125	Ser-rich.							p.A1125S(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGCTTTTGGCGGGTGATGAG	0.502																																						ENST00000409261.1																			1	Substitution - Missense(1)	p.A1125S(1)	kidney(1)	NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3373-3375)Gcc>Acc		NCK-associated protein 5							157.0	164.0	162.0					2																	133541011		2094	4227	6321	SO:0001583	missense	344148						protein binding	g.chr2:133541011C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3373G>A	2.37:g.133541011C>T	ENSP00000387128:p.Ala1125Thr		Somatic				NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1125T|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	p.A1125T	NM_207363.2	NP_997246.2	WXS	Illumina GAIIx	Phase_I	O14513	NCKP5_HUMAN			14	3746	-			1125			Ser-rich.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.3373G>A	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	1.009	-0.688367	0.03328	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09723	2.95;2.95	5.24	1.46	0.22682	.	0.992366	0.08158	N	0.988883	T	0.03915	0.0110	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45789	-0.9237	10	0.20046	T	0.44	.	1.7347	0.02939	0.5677:0.1727:0.095:0.1646	.	1125	O14513	NCKP5_HUMAN	T	1125	ENSP00000387128:A1125T;ENSP00000380603:A1125T	ENSP00000380603:A1125T	A	-	1	0	NCKAP5	133257481	0.000000	0.05858	0.003000	0.11579	0.028000	0.11728	0.367000	0.20382	0.091000	0.17302	-0.291000	0.09656	GCC		0.502	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		4	418	0	0	0	1	0	4	418				
CPSF4	10898	broad.mit.edu	37	7	99047957	99047957	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:99047957G>T	ENST00000292476.5	+	4	376	c.366G>T	c.(364-366)aaG>aaT	p.K122N	CPSF4_ENST00000441580.1_Missense_Mutation_p.K69N|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000466753.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000451876.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000436336.2_Missense_Mutation_p.K122N			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	122					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K122N(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCAAGATCAAGGACTGTCCTT	0.622																																						ENST00000436336.2																			1	Substitution - Missense(1)	p.K122N(1)	kidney(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14						c.(364-366)aaG>aaT		cleavage and polyadenylation specific factor 4, 30kDa							82.0	67.0	72.0					7																	99047957		2203	4300	6503	SO:0001583	missense	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99047957G>T		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.366G>T	7.37:g.99047957G>T	ENSP00000292476:p.Lys122Asn		Somatic				CPSF4_ENST00000441580.1_Missense_Mutation_p.K69N|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000292476.5_Missense_Mutation_p.K122N|PTCD1_ENST00000555673.1_Intron|ATP5J2_ENST00000466753.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000451876.1_Intron	p.K122N	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	WXS	Illumina GAIIx	Phase_I	O95639	CPSF4_HUMAN			4	527	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		122					D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	ENST00000292476.5	37	c.366G>T	CCDS5664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.136651|4.136651	0.77662|0.77662	.|.	.|.	ENSG00000160917|ENSG00000160917	ENST00000440514|ENST00000436336;ENST00000292476;ENST00000441580;ENST00000412686;ENST00000452047	.|T;T;T;T;T	.|0.44083	.|0.93;0.93;0.93;0.93;1.38	5.93|5.93	2.74|2.74	0.32292|0.32292	.|Zinc finger, CCCH-type (2);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.59280	.|0.2182	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.69078	.|0.993;0.997;0.779;0.995	.|P;D;B;D	.|0.69654	.|0.722;0.965;0.313;0.965	.|T	.|0.57376	.|-0.7822	.|10	.|0.33940	.|T	.|0.23	-19.65|-19.65	7.1249|7.1249	0.25467|0.25467	0.4371:0.0:0.5629:0.0|0.4371:0.0:0.5629:0.0	.|.	.|69;122;122;122	.|B7Z7B0;O95639-3;O95639;O95639-2	.|.;.;CPSF4_HUMAN;.	X|N	4|122;122;69;69;89	.|ENSP00000395311:K122N;ENSP00000292476:K122N;ENSP00000402224:K69N;ENSP00000401150:K69N;ENSP00000392584:K89N	.|ENSP00000292476:K122N	G|K	+|+	1|3	0|2	CPSF4|CPSF4	98885893|98885893	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.125000|3.125000	0.50469|0.50469	0.851000|0.851000	0.35264|0.35264	-0.136000|-0.136000	0.14681|0.14681	GGA|AAG		0.622	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			18	58	1	0	4.63292e-17	1	4.87861e-17	18	58				
PHF3	23469	broad.mit.edu	37	6	64389899	64389899	+	Splice_Site	SNP	A	A	T	rs200623505		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:64389899A>T	ENST00000262043.3	+	3	584		c.e3-1		PHF3_ENST00000393387.1_Splice_Site|PHF3_ENST00000509330.1_Splice_Site			Q92576	PHF3_HUMAN	PHD finger protein 3						multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTTTTTTTCTAGTTGTTGGTC	0.308																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.e3-1		PHD finger protein 3							84.0	85.0	84.0					6																	64389899		2203	4300	6503	SO:0001630	splice_region_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64389899A>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.245-1A>T	6.37:g.64389899A>T			Somatic				PHF3_ENST00000509330.1_Splice_Site|PHF3_ENST00000393387.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	584	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)							A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Splice_Site	SNP	ENST00000262043.3	37		CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.369739	0.61624	.	.	ENSG00000118482	ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	.	.	.	5.87	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0911	0.48117	0.9279:0.0:0.0721:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHF3	64447858	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.923000	0.63412	1.053000	0.40415	0.482000	0.46254	.		0.308	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		Intron	4	89	0	0	0	1	0	4	89				
KMT2C	58508	broad.mit.edu	37	7	151859400	151859400	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:151859400G>A	ENST00000262189.6	-	43	11480	c.11262C>T	c.(11260-11262)tcC>tcT	p.S3754S	KMT2C_ENST00000355193.2_Silent_p.S3754S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3754					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCTGTGCTGAGGAGACAGGAC	0.493																																						ENST00000355193.2																			0											c.(11260-11262)tcC>tcT		lysine (K)-specific methyltransferase 2C							88.0	89.0	89.0					7																	151859400		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151859400G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11262C>T	7.37:g.151859400G>A			Somatic				KMT2C_ENST00000262189.6_Silent_p.S3754S	p.S3754S			WXS	Illumina GAIIx	Phase_I					43	11480	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.11262C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	9.788	1.177090	0.21787	.	.	ENSG00000055609	ENST00000360104	.	.	.	4.64	2.81	0.32909	.	.	.	.	.	T	0.47691	0.1459	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38972	-0.9636	4	.	.	.	.	4.522	0.11964	0.4329:0.0:0.5671:0.0	.	.	.	.	F	1260	.	.	L	-	1	0	MLL3	151490333	0.355000	0.24921	0.493000	0.27502	0.985000	0.73830	0.520000	0.22878	1.262000	0.44165	0.650000	0.86243	CTC		0.493	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	207	0	0	0	1	0	5	207				
CD48	962	broad.mit.edu	37	1	160654785	160654785	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:160654785C>G	ENST00000368046.3	-	2	364	c.277G>C	c.(277-279)Gca>Cca	p.A93P	RP11-404F10.2_ENST00000588034.1_RNA|CD48_ENST00000368045.3_Missense_Mutation_p.A93P|RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000598917.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	93	Ig-like C2-type 1.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGTACAGTGCGCCACTCTGA	0.423																																						ENST00000368045.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(277-279)Gca>Cca		CD48 molecule							167.0	164.0	165.0					1																	160654785		2203	4300	6503	SO:0001583	missense	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160654785C>G	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.277G>C	1.37:g.160654785C>G	ENSP00000357025:p.Ala93Pro		Somatic				CD48_ENST00000368046.3_Missense_Mutation_p.A93P	p.A93P			WXS	Illumina GAIIx	Phase_I	P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	316	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		93			Ig-like C2-type 1.		Q5U055|Q8MGR0	Missense_Mutation	SNP	ENST00000368046.3	37	c.277G>C	CCDS1208.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464867	0.43839	.	.	ENSG00000117091	ENST00000368046;ENST00000368045	T;T	0.65916	-0.18;-0.18	3.59	-0.856	0.10697	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.110220	0.06745	N	0.778936	T	0.60958	0.2309	M	0.61703	1.905	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.997;0.999;0.999	T	0.49204	-0.8964	10	0.66056	D	0.02	-3.3301	6.5366	0.22357	0.0:0.443:0.0:0.557	.	93;93;93	Q8MGR0;Q6IAZ2;P09326	.;.;CD48_HUMAN	P	93	ENSP00000357025:A93P;ENSP00000357024:A93P	ENSP00000357024:A93P	A	-	1	0	CD48	158921409	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.603000	0.05674	-0.150000	0.11195	0.462000	0.41574	GCA		0.423	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		8	719	0	0	0	1	0	8	719				
AHNAK2	113146	broad.mit.edu	37	14	105421825	105421825	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:105421825C>T	ENST00000333244.5	-	5	580	c.461G>A	c.(460-462)aGa>aAa	p.R154K	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	154	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCACCTTCTCTCAAGTTAAA	0.582																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(460-462)aGa>aAa		AHNAK nucleoprotein 2							75.0	82.0	79.0					14																	105421825		1995	4166	6161	SO:0001583	missense	113146					nucleus		g.chr14:105421825C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.461G>A	14.37:g.105421825C>T	ENSP00000353114:p.Arg154Lys		Somatic					p.R154K	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		5	580	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	154			PDZ.		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.461G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	13.55	2.271988	0.40194	.	.	ENSG00000185567	ENST00000333244	T	0.38560	1.13	4.72	1.82	0.25136	PDZ/DHR/GLGF (3);	0.165644	0.41823	U	0.000814	T	0.18130	0.0435	N	0.20401	0.57	0.20196	N	0.999924	P	0.40970	0.734	B	0.35470	0.203	T	0.33574	-0.9863	10	0.02654	T	1	.	7.208	0.25917	0.0:0.6244:0.0:0.3756	.	154	Q8IVF2	AHNK2_HUMAN	K	154	ENSP00000353114:R154K	ENSP00000353114:R154K	R	-	2	0	AHNAK2	104492870	0.275000	0.24201	0.954000	0.39281	0.579000	0.36224	0.166000	0.16583	0.192000	0.20272	-0.145000	0.13849	AGA		0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	32	0	0	0	1	0	9	32				
KBTBD7	84078	broad.mit.edu	37	13	41767977	41767977	+	Silent	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr13:41767977G>T	ENST00000379483.3	-	1	725	c.417C>A	c.(415-417)gcC>gcA	p.A139A		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	139										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCTGCACATTGGCCTCACTGA	0.597																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(415-417)gcC>gcA		kelch repeat and BTB (POZ) domain containing 7							119.0	96.0	104.0					13																	41767977		2203	4300	6503	SO:0001819	synonymous_variant	84078						protein binding	g.chr13:41767977G>T	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.417C>A	13.37:g.41767977G>T			Somatic					p.A139A	NM_032138.4	NP_115514.2	WXS	Illumina GAIIx	Phase_I	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	725	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	139					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Silent	SNP	ENST00000379483.3	37	c.417C>A	CCDS9377.1																																																																																				0.597	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		8	77	1	0	2.32078e-09	1	2.41338e-09	8	77				
NPAS3	64067	broad.mit.edu	37	14	33836390	33836390	+	Splice_Site	SNP	A	A	T	rs202236525		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:33836390A>T	ENST00000356141.4	+	4	385		c.e4-1		NPAS3_ENST00000548645.1_Splice_Site|NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000341321.4_Splice_Site|NPAS3_ENST00000547068.1_Intron|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000346562.2_Intron			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3						locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TTTTCTTTTAAGTTATAGGTG	0.368																																						ENST00000548645.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.e3-1		neuronal PAS domain protein 3							40.0	40.0	40.0					14																	33836390		2203	4300	6503	SO:0001630	splice_region_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:33836390A>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.386-1A>T	14.37:g.33836390A>T			Somatic				NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000356141.4_Splice_Site|NPAS3_ENST00000341321.4_Splice_Site|NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000547068.1_Intron|NPAS3_ENST00000357798.5_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	3	340	+	Breast(36;0.0102)|Hepatocellular(127;0.133)							Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Splice_Site	SNP	ENST00000356141.4	37		CCDS53891.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008521	0.75046	.	.	ENSG00000151322	ENST00000551634;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798;ENST00000551008;ENST00000546849	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6625	0.77199	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPAS3	32906141	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.499000	0.81566	2.107000	0.64212	0.533000	0.62120	.		0.368	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1		Intron	3	29	0	0	0	1	0	3	29				
ACOX2	8309	broad.mit.edu	37	3	58520149	58520149	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:58520149G>A	ENST00000302819.5	-	3	552	c.261C>T	c.(259-261)atC>atT	p.I87I	ACOX2_ENST00000459701.2_Silent_p.I87I	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	87					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CTATCAACCGGATGTGGAATG	0.517																																						ENST00000302819.5																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(259-261)atC>atT		acyl-CoA oxidase 2, branched chain							109.0	104.0	106.0					3																	58520149		2203	4300	6503	SO:0001819	synonymous_variant	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58520149G>A	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.261C>T	3.37:g.58520149G>A			Somatic				ACOX2_ENST00000459701.2_Silent_p.I87I	p.I87I	NM_003500.3	NP_003491.1	WXS	Illumina GAIIx	Phase_I	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	3	552	-			87					A6NF16|B2R8U5	Silent	SNP	ENST00000302819.5	37	c.261C>T	CCDS33775.1																																																																																				0.517	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			14	186	0	0	0	1	0	14	186				
CPNE5	57699	broad.mit.edu	37	6	36790836	36790836	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:36790836G>A	ENST00000244751.2	-	2	758	c.134C>T	c.(133-135)cCa>cTa	p.P45L		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	45	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGACTTACGTGGGTCGGACTT	0.527																																						ENST00000244751.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(133-135)cCa>cTa		copine V							148.0	133.0	138.0					6																	36790836		2203	4300	6503	SO:0001583	missense	57699							g.chr6:36790836G>A	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.134C>T	6.37:g.36790836G>A	ENSP00000244751:p.Pro45Leu		Somatic					p.P45L	NM_020939.1	NP_065990.1	WXS	Illumina GAIIx	Phase_I	Q9HCH3	CPNE5_HUMAN			2	758	-			45			C2 1.		Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	c.134C>T	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306867	0.81247	.	.	ENSG00000124772	ENST00000244751	T	0.76709	-1.04	5.25	5.25	0.73442	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91633	0.7356	H	0.98507	4.25	0.80722	D	1	D	0.67145	0.996	D	0.74023	0.982	D	0.94312	0.7546	10	0.87932	D	0	.	14.3453	0.66658	0.0:0.0:1.0:0.0	.	45	Q9HCH3	CPNE5_HUMAN	L	45	ENSP00000244751:P45L	ENSP00000244751:P45L	P	-	2	0	CPNE5	36898814	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.345000	0.65987	2.451000	0.82905	0.561000	0.74099	CCA		0.527	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		7	334	0	0	0	1	0	7	334				
KIF1B	23095	broad.mit.edu	37	1	10356638	10356638	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:10356638A>T	ENST00000377086.1	+	20	1979		c.e20-1		KIF1B_ENST00000263934.6_Splice_Site|RNU6-37P_ENST00000362692.1_RNA|KIF1B_ENST00000377093.4_Splice_Site|KIF1B_ENST00000377083.1_Splice_Site|KIF1B_ENST00000377081.1_Splice_Site			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGTTCCTCTTAGTTATCGTGA	0.433																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.e20-1		kinesin family member 1B							87.0	81.0	83.0					1																	10356638		2203	4300	6503	SO:0001630	splice_region_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10356638A>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.1778-1A>T	1.37:g.10356638A>T			Somatic				KIF1B_ENST00000377083.1_Splice_Site|KIF1B_ENST00000377093.4_Splice_Site|KIF1B_ENST00000263934.6_Splice_Site|KIF1B_ENST00000377081.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	20	1979	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)						A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Splice_Site	SNP	ENST00000377086.1	37			.	.	.	.	.	.	.	.	.	.	A	25.2	4.616718	0.87359	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1699	0.81801	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF1B	10279225	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.273000	0.72581	2.217000	0.71921	0.533000	0.62120	.		0.433	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		Intron	4	104	0	0	0	1	0	4	104				
CXorf65	158830	broad.mit.edu	37	X	70323864	70323864	+	Silent	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chrX:70323864G>C	ENST00000374251.5	-	6	573	c.525C>G	c.(523-525)ctC>ctG	p.L175L		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	175										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						TGGTTTTATTGAGTTGGCGAC	0.408																																						ENST00000374251.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						c.(523-525)ctC>ctG		chromosome X open reading frame 65							125.0	99.0	108.0					X																	70323864		2202	4300	6502	SO:0001819	synonymous_variant	158830							g.chrX:70323864G>C	BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.525C>G	X.37:g.70323864G>C			Somatic				CXorf65_ENST00000485951.1_5'UTR	p.L175L			WXS	Illumina GAIIx	Phase_I	A6NEN9	CX065_HUMAN			6	572	-			175						Silent	SNP	ENST00000374251.5	37	c.525C>G	CCDS35324.1																																																																																				0.408	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057089.2	NM_001025265		5	77	0	0	0	1	0	5	77				
NCOA5	57727	broad.mit.edu	37	20	44693847	44693847	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:44693847C>A	ENST00000290231.6	-	6	814	c.650G>T	c.(649-651)gGg>gTg	p.G217V		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G217V(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CACCTTCCGCCCCACAGACTC	0.493																																						ENST00000290231.6																			1	Substitution - Missense(1)	p.G217V(1)	kidney(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(649-651)gGg>gTg		nuclear receptor coactivator 5							163.0	141.0	148.0					20																	44693847		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44693847C>A		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.650G>T	20.37:g.44693847C>A	ENSP00000290231:p.Gly217Val		Somatic					p.G217V	NM_020967.2	NP_066018.1	WXS	Illumina GAIIx	Phase_I	Q9HCD5	NCOA5_HUMAN			6	814	-		Myeloproliferative disorder(115;0.0122)	217					B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.650G>T	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787561	0.90367	.	.	ENSG00000124160	ENST00000290231	T	0.51574	0.7	5.38	5.38	0.77491	Anticodon-binding (2);	0.046304	0.85682	D	0.000000	T	0.65719	0.2718	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64428	-0.6410	10	0.52906	T	0.07	-14.4793	18.3063	0.90182	0.0:1.0:0.0:0.0	.	217	Q9HCD5	NCOA5_HUMAN	V	217	ENSP00000290231:G217V	ENSP00000290231:G217V	G	-	2	0	NCOA5	44127254	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.651000	0.83577	2.804000	0.96469	0.462000	0.41574	GGG		0.493	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		177	374	1	0	8.07858e-61	1	8.66007e-61	177	374				
LARP4	113251	broad.mit.edu	37	12	50869645	50869645	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:50869645T>A	ENST00000398473.2	+	16	2285	c.2173T>A	c.(2173-2175)Taa>Aaa	p.*725K	LARP4_ENST00000429001.3_Nonstop_Mutation_p.*731K|LARP4_ENST00000293618.8_Nonstop_Mutation_p.*654K|LARP4_ENST00000518444.1_Nonstop_Mutation_p.*724K|LARP4_ENST00000347328.5_Nonstop_Mutation_p.*654K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	0					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATCACCAAAGTAAAAAACAAC	0.448																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(2173-2175)Taa>Aaa		La ribonucleoprotein domain family, member 4							42.0	43.0	42.0					12																	50869645		1874	4108	5982	SO:0001578	stop_lost	113251						nucleotide binding|RNA binding	g.chr12:50869645T>A	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.2173T>A	12.37:g.50869645T>A	ENSP00000381490:p.*725Lysext*81		Somatic				LARP4_ENST00000347328.5_Nonstop_Mutation_p.*654K|LARP4_ENST00000293618.8_Nonstop_Mutation_p.*654K|LARP4_ENST00000518444.1_Nonstop_Mutation_p.*724K|LARP4_ENST00000429001.3_Nonstop_Mutation_p.*731K	p.*725K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	WXS	Illumina GAIIx	Phase_I	Q71RC2	LARP4_HUMAN			16	2285	+			0					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Nonstop_Mutation	SNP	ENST00000398473.2	37	c.2173T>A	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942821	0.53079	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.337	0.55073	0.0:0.0:0.141:0.859	.	.	.	.	K	654;731;725;724;606;654	.	.	X	+	1	0	LARP4	49155912	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	3.694000	0.54742	2.202000	0.70862	0.523000	0.50628	TAA		0.448	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		6	51	0	0	0	1	0	6	51				
PDE1B	5153	broad.mit.edu	37	12	54963068	54963068	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:54963068C>T	ENST00000243052.3	+	4	764	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	PDE1B_ENST00000550620.1_Missense_Mutation_p.R90W|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.R69W	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	110					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CCAGCAGGCCCGGGCCAAAGG	0.647																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(328-330)Cgg>Tgg		phosphodiesterase 1B, calmodulin-dependent							44.0	49.0	47.0					12																	54963068		2203	4300	6503	SO:0001583	missense	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54963068C>T	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.328C>T	12.37:g.54963068C>T	ENSP00000243052:p.Arg110Trp		Somatic				PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.R69W|PDE1B_ENST00000550620.1_Missense_Mutation_p.R90W	p.R110W	NM_000924.3	NP_000915.1	WXS	Illumina GAIIx	Phase_I	Q01064	PDE1B_HUMAN			4	764	+			110					Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.328C>T	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806568	0.70682	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.69561	-0.41;-0.41;-0.41	5.21	4.31	0.51392	-cyclic nucleotide phosphodiesterase N-terminal (1);5&apos (1);3&apos (1);	0.176659	0.35040	N	0.003481	T	0.72645	0.3486	L	0.40543	1.245	0.48341	D	0.999636	D;D	0.76494	0.999;0.999	D;D	0.70716	0.949;0.97	T	0.74383	-0.3683	10	0.66056	D	0.02	.	11.1608	0.48514	0.3348:0.6652:0.0:0.0	.	90;110	Q01064-2;Q01064	.;PDE1B_HUMAN	W	110;69;90	ENSP00000243052:R110W;ENSP00000442559:R69W;ENSP00000448519:R90W	ENSP00000243052:R110W	R	+	1	2	PDE1B	53249335	0.579000	0.26725	0.999000	0.59377	0.989000	0.77384	0.662000	0.25038	1.320000	0.45209	-0.181000	0.13052	CGG		0.647	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			4	202	0	0	0	1	0	4	202				
IGKV1D-42	28892	broad.mit.edu	37	2	90229349	90229349	+	RNA	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:90229349T>C	ENST00000390278.2	+	0	189									immunoglobulin kappa variable 1D-42 (non-functional)																		TAATTTAGCCTGGTATCTGCA	0.493																																						ENST00000390278.2																			0																				82.0	86.0	85.0					2																	90229349		1894	4129	6023			28892							g.chr2:90229349T>C	X72816		2p11.2	2012-02-08	2008-09-09		ENSG00000211633	ENSG00000211633		"""Immunoglobulins / IGK locus"""	5757	other	immunoglobulin gene			"""immunoglobulin kappa variable 1D-42"""				Standard	NG_000833		Approved				OTTHUMG00000151573		2.37:g.90229349T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	189	+									RNA	SNP	ENST00000390278.2	37																																																																																						0.493	IGKV1D-42-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323148.1	NG_000833		4	181	0	0	0	1	0	4	181				
CAMTA1	23261	broad.mit.edu	37	1	7725011	7725011	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:7725011G>A	ENST00000303635.7	+	9	2611	c.2404G>A	c.(2404-2406)Gcg>Acg	p.A802T	CAMTA1_ENST00000439411.2_Missense_Mutation_p.A802T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	802					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGACAGCACGGCGCTCTCACA	0.652			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(2404-2406)Gcg>Acg		calmodulin binding transcription activator 1							113.0	133.0	126.0					1																	7725011		2203	4299	6502	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7725011G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2404G>A	1.37:g.7725011G>A	ENSP00000306522:p.Ala802Thr		Somatic				CAMTA1_ENST00000439411.2_Missense_Mutation_p.A802T	p.A802T	NM_015215.2	NP_056030.1	WXS	Illumina GAIIx	Phase_I	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2611	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	802					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.2404G>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	5.444	0.266984	0.10294	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.27402	1.68;1.67	5.23	5.23	0.72850	.	0.453240	0.23472	N	0.047807	T	0.16342	0.0393	N	0.08118	0	0.21020	N	0.999807	B	0.32245	0.361	B	0.22386	0.039	T	0.08868	-1.0701	10	0.16420	T	0.52	-15.167	18.7931	0.91982	0.0:0.0:1.0:0.0	.	802	Q9Y6Y1	CMTA1_HUMAN	T	802	ENSP00000306522:A802T;ENSP00000402561:A802T	ENSP00000306522:A802T	A	+	1	0	CAMTA1	7647598	0.998000	0.40836	0.139000	0.22197	0.052000	0.14988	4.384000	0.59607	2.453000	0.82957	0.549000	0.68633	GCG		0.652	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		4	167	0	0	0	1	0	4	167				
ADCY3	109	broad.mit.edu	37	2	25044423	25044423	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:25044423G>A	ENST00000260600.5	-	19	3941	c.3090C>T	c.(3088-3090)atC>atT	p.I1030I	CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Silent_p.I617I	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1030					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)|cellular response to glucagon stimulus (GO:0071377)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ACTGGTTGTTGATGTTGGTGA	0.627																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(3088-3090)atC>atT		adenylate cyclase 3							169.0	153.0	158.0					2																	25044423		2203	4300	6503	SO:0001819	synonymous_variant	109				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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25044423G>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.3090C>T	2.37:g.25044423G>A			Somatic				CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Silent_p.I617I	p.I1030I	NM_004036.3	NP_004027.2	WXS	Illumina GAIIx	Phase_I	O60266	ADCY3_HUMAN			19	3941	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		1030					B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	c.3090C>T	CCDS1715.1																																																																																				0.627	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			4	207	0	0	0	1	0	4	207				
MED12L	116931	broad.mit.edu	37	3	151078337	151078337	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:151078337C>T	ENST00000474524.1	+	19	2834	c.2796C>T	c.(2794-2796)ctC>ctT	p.L932L	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.L792L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	932						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAGCCTACCTCTATGATCTCT	0.423																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(2794-2796)ctC>ctT		mediator complex subunit 12-like							238.0	223.0	228.0					3																	151078337		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151078337C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2796C>T	3.37:g.151078337C>T			Somatic				MED12L_ENST00000273432.4_Silent_p.L792L|P2RY12_ENST00000302632.3_Intron	p.L932L	NM_053002.4	NP_443728.3	WXS	Illumina GAIIx	Phase_I	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		19	2834	+			932					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.2796C>T	CCDS33876.1																																																																																				0.423	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		39	465	0	0	0	1	0	39	465				
ALG10B	144245	broad.mit.edu	37	12	38714410	38714410	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:38714410G>A	ENST00000308742.4	+	3	1133	c.817G>A	c.(817-819)Gga>Aga	p.G273R	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	273					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AGTTAATGGTGGAATTGTTAT	0.353																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(817-819)Gga>Aga		ALG10B, alpha-1,2-glucosyltransferase							171.0	173.0	173.0					12																	38714410		2203	4296	6499	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714410G>A	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.817G>A	12.37:g.38714410G>A	ENSP00000310120:p.Gly273Arg		Somatic				ALG10B_ENST00000551464.1_Intron	p.G273R	NM_001013620.3	NP_001013642.1	WXS	Illumina GAIIx	Phase_I	Q5I7T1	AG10B_HUMAN			3	1133	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	273					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.817G>A	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	g	19.75	3.886016	0.72410	.	.	ENSG00000175548	ENST00000308742	T	0.56776	0.44	3.23	3.23	0.37069	.	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82080	-0.0634	10	0.87932	D	0	.	12.7261	0.57173	0.0:0.0:1.0:0.0	.	273	Q5I7T1	AG10B_HUMAN	R	273	ENSP00000310120:G273R	ENSP00000310120:G273R	G	+	1	0	ALG10B	37000677	1.000000	0.71417	0.986000	0.45419	0.847000	0.48162	9.123000	0.94387	2.103000	0.63969	0.643000	0.83706	GGA		0.353	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		8	246	0	0	0	1	0	8	246				
HIST1H2AK	8330	broad.mit.edu	37	6	27805883	27805883	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:27805883T>G	ENST00000330180.2	-	1	234	c.235A>C	c.(235-237)Atc>Ctc	p.I79L	HIST1H2BN_ENST00000396980.3_5'Flank|HIST1H2BN_ENST00000606613.1_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	79						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.I79L(1)		breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						CGCGGGATGATGCGGGTCTTC	0.627																																						ENST00000330180.2																			1	Substitution - Missense(1)	p.I79L(1)	kidney(1)	breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						c.(235-237)Atc>Ctc		histone cluster 1, H2ak							108.0	110.0	109.0					6																	27805883		2203	4300	6503	SO:0001583	missense	8330				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27805883T>G	Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"""Histones / Replication-dependent"""	4726	protein-coding gene	gene with protein product		602788	"""H2A histone family, member D"", ""histone 1, H2ak"""	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.235A>C	6.37:g.27805883T>G	ENSP00000330307:p.Ile79Leu		Somatic					p.I79L	NM_003510.2	NP_003501.1	WXS	Illumina GAIIx	Phase_I	P0C0S8	H2A1_HUMAN			1	234	-			79					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000330180.2	37	c.235A>C	CCDS4632.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.257302	0.80246	.	.	ENSG00000184348	ENST00000330180	T	0.69685	-0.42	4.28	4.28	0.50868	.	0.000000	0.31507	U	0.007535	T	0.67468	0.2896	.	.	.	0.34434	D	0.69886	.	.	.	.	.	.	T	0.74222	-0.3735	7	0.87932	D	0	.	13.277	0.60191	0.0:0.0:0.0:1.0	.	.	.	.	L	79	ENSP00000330307:I79L	ENSP00000330307:I79L	I	-	1	0	HIST1H2AK	27913862	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.949000	0.70257	1.860000	0.53959	0.454000	0.30748	ATC		0.627	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043814.1	NM_003510		72	54	0	0	0	1	0	72	54				
SYT17	51760	broad.mit.edu	37	16	19191802	19191802	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:19191802G>T	ENST00000355377.2	+	4	670	c.272G>T	c.(271-273)gGa>gTa	p.G91V	SYT17_ENST00000562711.2_Missense_Mutation_p.G87V|SYT17_ENST00000568115.1_Missense_Mutation_p.G30V|SYT17_ENST00000562034.1_Missense_Mutation_p.G30V	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	91					exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TCCCCGGATGGAAGACGCTCG	0.582											OREG0023658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000562034.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						c.(88-90)gGa>gTa		synaptotagmin XVII							89.0	72.0	78.0					16																	19191802		2197	4300	6497	SO:0001583	missense	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19191802G>T		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.272G>T	16.37:g.19191802G>T	ENSP00000347538:p.Gly91Val		Somatic	OREG0023658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	731	SYT17_ENST00000568115.1_Missense_Mutation_p.G30V|SYT17_ENST00000355377.2_Missense_Mutation_p.G91V|SYT17_ENST00000562711.2_Missense_Mutation_p.G87V	p.G30V			WXS	Illumina GAIIx	Phase_I	Q9BSW7	SYT17_HUMAN			2	3887	+			91			Cys-rich.		O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	c.89G>T	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046510	0.55110	.	.	ENSG00000103528	ENST00000355377	T	0.15834	2.39	4.73	2.78	0.32641	.	0.356527	0.24236	N	0.040307	T	0.08179	0.0204	N	0.08118	0	0.80722	D	1	B;B	0.17667	0.023;0.023	B;B	0.20384	0.014;0.029	T	0.19224	-1.0312	10	0.12766	T	0.61	.	11.8063	0.52156	0.1497:0.0:0.8503:0.0	.	91;30	Q9BSW7;B4DJB2	SYT17_HUMAN;.	V	91	ENSP00000347538:G91V	ENSP00000347538:G91V	G	+	2	0	SYT17	19099303	1.000000	0.71417	0.989000	0.46669	0.974000	0.67602	2.966000	0.49208	1.366000	0.46076	0.655000	0.94253	GGA		0.582	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		6	101	1	0	0.000157383	1	0.000161647	6	101				
RNF220	55182	broad.mit.edu	37	1	44877987	44877987	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:44877987A>G	ENST00000355387.2	+	2	668	c.218A>G	c.(217-219)tAc>tGc	p.Y73C	RNF220_ENST00000361799.2_Missense_Mutation_p.Y73C|RNF220_ENST00000372247.2_Missense_Mutation_p.Y73C			Q5VTB9	RN220_HUMAN	ring finger protein 220	73					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GCCTCTATGTACCATCGGCAA	0.512																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(217-219)tAc>tGc		ring finger protein 220							328.0	317.0	321.0					1																	44877987		2203	4300	6503	SO:0001583	missense	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44877987A>G	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.218A>G	1.37:g.44877987A>G	ENSP00000347548:p.Tyr73Cys		Somatic				RNF220_ENST00000372247.2_Missense_Mutation_p.Y73C|RNF220_ENST00000361799.2_Missense_Mutation_p.Y73C	p.Y73C			WXS	Illumina GAIIx	Phase_I	Q5VTB9	RN220_HUMAN			2	668	+			73					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	c.218A>G	CCDS510.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.433969	0.62955	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.67906	0.2943	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.70644	-0.4815	9	0.72032	D	0.01	.	16.6	0.84812	1.0:0.0:0.0:0.0	.	73	Q5VTB9	RN220_HUMAN	C	73	.	ENSP00000347548:Y73C	Y	+	2	0	RNF220	44650574	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.323000	0.78572	0.533000	0.62120	TAC		0.512	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		10	1988	0	0	0	1	0	10	1988				
GGA1	26088	broad.mit.edu	37	22	38010280	38010280	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:38010280G>A	ENST00000343632.4	+	2	513	c.127G>A	c.(127-129)Ggg>Agg	p.G43R	GGA1_ENST00000337437.4_Splice_Site_p.G43R|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000414350.3_Splice_Site_p.G43R|GGA1_ENST00000405147.3_Splice_Site_p.G43R|GGA1_ENST00000381756.5_Splice_Site_p.G43R|GGA1_ENST00000325180.8_Splice_Site_p.G43R	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	43	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G43R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGACTTTGAGGGGTAGGTGGC	0.592																																						ENST00000343632.4																			1	Substitution - Missense(1)	p.G43R(1)	kidney(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.e2+1		golgi-associated, gamma adaptin ear containing, ARF binding protein 1							79.0	67.0	71.0					22																	38010280		2203	4300	6503	SO:0001630	splice_region_variant	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38010280G>A	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.128+1G>A	22.37:g.38010280G>A			Somatic				GGA1_ENST00000414350.3_Splice_Site_p.G43_splice|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000337437.4_Splice_Site_p.G43_splice|GGA1_ENST00000325180.8_Splice_Site_p.G43_splice|GGA1_ENST00000405147.3_Splice_Site_p.G43_splice|GGA1_ENST00000381756.5_Splice_Site_p.G43_splice	p.G43_splice	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	WXS	Illumina GAIIx	Phase_I	Q9UJY5	GGA1_HUMAN			2	513	+	Melanoma(58;0.0574)		43			VHS.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Splice_Site	SNP	ENST00000343632.4	37	c.128_splice	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948893	0.92660	.	.	ENSG00000100083	ENST00000414350;ENST00000343632;ENST00000381756;ENST00000405147;ENST00000325180;ENST00000337437;ENST00000449944	T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89	4.41	4.41	0.53225	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.000000	0.85682	D	0.000000	T	0.61413	0.2345	M	0.93106	3.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.999;1.0;0.999;0.989	T	0.73802	-0.3868	10	0.87932	D	0	-33.5231	17.1826	0.86858	0.0:0.0:1.0:0.0	.	43;43;43;43	Q6IC75;Q86YA9;Q9UJY5;Q8NCS6	.;.;GGA1_HUMAN;.	R	43;43;43;43;43;43;35	ENSP00000414387:G43R;ENSP00000341344:G43R;ENSP00000371175:G43R;ENSP00000384030:G43R;ENSP00000321288:G43R;ENSP00000338647:G43R;ENSP00000390416:G35R	ENSP00000321288:G43R	G	+	1	0	GGA1	36340226	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	9.399000	0.97285	2.287000	0.76781	0.462000	0.41574	GGG		0.592	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365	Missense_Mutation	10	24	0	0	0	1	0	10	24				
KLHL7	55975	broad.mit.edu	37	7	23180390	23180390	+	Missense_Mutation	SNP	A	A	T	rs372990687		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:23180390A>T	ENST00000339077.5	+	5	688	c.445A>T	c.(445-447)Ata>Tta	p.I149L	KLHL7_ENST00000322231.7_Missense_Mutation_p.I127L|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000539124.1_Missense_Mutation_p.I73L|KLHL7_ENST00000409689.1_Missense_Mutation_p.I101L|KLHL7_ENST00000545443.1_Missense_Mutation_p.I127L|KLHL7_ENST00000542558.1_5'UTR	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	149	BACK.				protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTGTTTAGGTATAAGTGTGCT	0.318																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(379-381)Ata>Tta		kelch-like family member 7		A	LEU/ILE,LEU/ILE	1,4405	2.1+/-5.4	0,1,2202	65.0	65.0	65.0		445,301	4.0	1.0	7		65	0,8600		0,0,4300	no	missense,missense	KLHL7	NM_001031710.2,NM_018846.4	5,5	0,1,6502	TT,TA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging	149/587,101/539	23180390	1,13005	2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23180390A>T		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.445A>T	7.37:g.23180390A>T	ENSP00000343273:p.Ile149Leu		Somatic				KLHL7_ENST00000339077.4_Missense_Mutation_p.I149L|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000539124.1_Missense_Mutation_p.I73L|KLHL7_ENST00000409689.1_Missense_Mutation_p.I101L|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000545443.1_Missense_Mutation_p.I127L	p.I127L			WXS	Illumina GAIIx	Phase_I	Q8IXQ5	KLHL7_HUMAN			6	869	+			149					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.379A>T	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.498212	0.44455	2.27E-4	0.0	ENSG00000122550	ENST00000322231;ENST00000339077;ENST00000539124;ENST00000409689;ENST00000545443	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	5.2	4.03	0.46877	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.72236	0.3435	M	0.74258	2.255	0.80722	D	1	P;P	0.45126	0.779;0.851	B;B	0.44224	0.425;0.444	T	0.74968	-0.3483	10	0.87932	D	0	.	11.6072	0.51039	0.8664:0.0:0.0:0.1336	.	149;127	Q8IXQ5;Q8IXQ5-2	KLHL7_HUMAN;.	L	127;149;73;101;127	ENSP00000322958:I127L;ENSP00000343273:I149L;ENSP00000441136:I73L;ENSP00000386263:I101L;ENSP00000442366:I127L	ENSP00000322958:I127L	I	+	1	0	KLHL7	23146915	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	8.649000	0.91067	0.898000	0.36418	-0.490000	0.04691	ATA		0.318	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		4	85	0	0	0	1	0	4	85				
KCNJ10	3766	broad.mit.edu	37	1	160011814	160011814	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:160011814G>A	ENST00000368089.3	-	2	735	c.509C>T	c.(508-510)gCc>gTc	p.A170V	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	170					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	CTTGGGCCGGGCAATCTTCGC	0.547																																					GBM(167;1368 2014 14817 36425 43215)	ENST00000368089.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17						c.(508-510)gCc>gTc		potassium inwardly-rectifying channel, subfamily J, member 10							85.0	82.0	83.0					1																	160011814		2203	4300	6503	SO:0001583	missense	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160011814G>A	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.509C>T	1.37:g.160011814G>A	ENSP00000357068:p.Ala170Val		Somatic				KCNJ10_ENST00000509700.1_5'UTR	p.A170V	NM_002241.4	NP_002232.2	WXS	Illumina GAIIx	Phase_I	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	735	-	all_hematologic(112;0.093)		170					A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	c.509C>T	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651165	0.88056	.	.	ENSG00000177807	ENST00000368089	D	0.95622	-3.76	5.44	5.44	0.79542	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97005	0.9022	M	0.67700	2.07	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.97029	0.9749	10	0.66056	D	0.02	.	16.8112	0.85720	0.0:0.0:1.0:0.0	.	170	P78508	IRK10_HUMAN	V	170	ENSP00000357068:A170V	ENSP00000357068:A170V	A	-	2	0	KCNJ10	158278438	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.657000	0.98554	2.837000	0.97791	0.655000	0.94253	GCC		0.547	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		6	854	0	0	0	1	0	6	854				
OR11H6	122748	broad.mit.edu	37	14	20691896	20691896	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:20691896A>T	ENST00000315519.2	+	1	106	c.28A>T	c.(28-30)Act>Tct	p.T10S		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TTCTTTGGTTACTTCTGTTTT	0.378																																						ENST00000315519.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(28-30)Act>Tct		olfactory receptor, family 11, subfamily H, member 6							79.0	84.0	82.0					14																	20691896		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20691896A>T		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.28A>T	14.37:g.20691896A>T	ENSP00000319071:p.Thr10Ser		Somatic					p.T10S	NM_001004480.1	NP_001004480.1	WXS	Illumina GAIIx	Phase_I	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	106	+	all_cancers(95;0.00108)		10					Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.28A>T	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	a	10.85	1.468050	0.26335	.	.	ENSG00000176219	ENST00000315519	T	0.00535	6.73	4.75	-6.88	0.01665	.	2.191770	0.02552	N	0.095761	T	0.00241	0.0007	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46303	-0.9201	10	0.05833	T	0.94	.	2.5026	0.04637	0.2086:0.3347:0.3273:0.1293	.	10	Q8NGC7	O11H6_HUMAN	S	10	ENSP00000319071:T10S	ENSP00000319071:T10S	T	+	1	0	OR11H6	19761736	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-0.817000	0.04472	-1.380000	0.02115	0.363000	0.22086	ACT		0.378	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			5	84	0	0	0	1	0	5	84				
SPEN	23013	broad.mit.edu	37	1	16265314	16265314	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:16265314C>T	ENST00000375759.3	+	14	11010	c.10806C>T	c.(10804-10806)taC>taT	p.Y3602Y		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3602	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCATCACTTACCTGCAGGCCA	0.572																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(10804-10806)taC>taT		spen family transcriptional repressor							134.0	102.0	113.0					1																	16265314		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16265314C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10806C>T	1.37:g.16265314C>T			Somatic					p.Y3602Y	NM_015001.2	NP_055816.2	WXS	Illumina GAIIx	Phase_I	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	14	11010	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3602			SPOC.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.10806C>T	CCDS164.1																																																																																				0.572	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		18	157	0	0	0	1	0	18	157				
MRGPRD	116512	broad.mit.edu	37	11	68747926	68747926	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:68747926C>G	ENST00000309106.3	-	1	529	c.530G>C	c.(529-531)aGg>aCg	p.R177T		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	177						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R177M(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CATGTCCACCCTGAAGCACCG	0.562																																						ENST00000309106.3																			1	Substitution - Missense(1)	p.R177M(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22						c.(529-531)aGg>aCg		MAS-related GPR, member D							56.0	46.0	49.0					11																	68747926		2200	4294	6494	SO:0001583	missense	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68747926C>G	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.530G>C	11.37:g.68747926C>G	ENSP00000310631:p.Arg177Thr		Somatic					p.R177T	NM_198923.2	NP_944605.2	WXS	Illumina GAIIx	Phase_I	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	529	-			177					Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	c.530G>C	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	C	1.734	-0.493302	0.04322	.	.	ENSG00000172938	ENST00000309106	T	0.35605	1.3	4.41	-8.82	0.00810	GPCR, rhodopsin-like superfamily (1);	1.643860	0.04312	N	0.349204	T	0.10852	0.0265	N	0.03917	-0.325	0.09310	N	1	B	0.14012	0.009	B	0.18871	0.023	T	0.18023	-1.0350	10	0.10902	T	0.67	0.0196	0.8269	0.01122	0.2061:0.2428:0.1625:0.3886	.	177	Q8TDS7	MRGRD_HUMAN	T	177	ENSP00000310631:R177T	ENSP00000310631:R177T	R	-	2	0	MRGPRD	68504502	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.186000	0.00143	-3.174000	0.00224	-0.727000	0.03589	AGG		0.562	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		5	65	0	0	0	1	0	5	65				
ARHGAP12	94134	broad.mit.edu	37	10	32197563	32197563	+	Missense_Mutation	SNP	C	C	T	rs150296370		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:32197563C>T	ENST00000344936.2	-	3	455	c.221G>A	c.(220-222)cGc>cAc	p.R74H	ARHGAP12_ENST00000375250.5_Missense_Mutation_p.R74H|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R74H|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R74H|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R74H	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	74	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GAGAGCTTTGCGCGTGACCTC	0.453																																						ENST00000375250.5																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.(220-222)cGc>cAc		Rho GTPase activating protein 12							111.0	96.0	101.0					10																	32197563		2203	4300	6503	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32197563C>T	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.221G>A	10.37:g.32197563C>T	ENSP00000345808:p.Arg74His		Somatic				ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R74H|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R74H|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R74H|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.R74H	p.R74H	NM_001270696.1	NP_001257625.1	WXS	Illumina GAIIx	Phase_I	Q8IWW6	RHG12_HUMAN			3	462	-		Prostate(175;0.0199)	74			SH3.		B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.221G>A	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687912	0.88639	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.83	5.83	0.93111	Src homology-3 domain (2);	0.108146	0.64402	D	0.000007	T	0.54319	0.1851	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999	T	0.49643	-0.8918	10	0.56958	D	0.05	.	20.115	0.97926	0.0:1.0:0.0:0.0	.	74;74;74;74;74;74	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	H	74	ENSP00000310984:R74H;ENSP00000364399:R74H;ENSP00000345808:R74H;ENSP00000379448:R74H;ENSP00000364394:R74H	ENSP00000310984:R74H	R	-	2	0	ARHGAP12	32237569	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.219000	0.78000	2.761000	0.94854	0.650000	0.86243	CGC		0.453	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			3	116	0	0	0	1	0	3	116				
LHX4	89884	broad.mit.edu	37	1	180243581	180243581	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:180243581G>A	ENST00000263726.2	+	6	1284	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	347					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GCAGGGCAGGGAGTAAGCCAG	0.572																																						ENST00000263726.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						c.(1039-1041)gGa>gAa		LIM homeobox 4							217.0	213.0	214.0					1																	180243581		2203	4300	6503	SO:0001583	missense	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180243581G>A	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.1040G>A	1.37:g.180243581G>A	ENSP00000263726:p.Gly347Glu		Somatic				RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	p.G347E	NM_033343.3	NP_203129.1	WXS	Illumina GAIIx	Phase_I	Q969G2	LHX4_HUMAN			6	1284	+			347					Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	ENST00000263726.2	37	c.1040G>A	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356282	0.82243	.	.	ENSG00000121454	ENST00000263726	D	0.88818	-2.43	5.68	5.68	0.88126	.	0.056443	0.64402	D	0.000001	D	0.91851	0.7421	L	0.57536	1.79	0.58432	D	0.999993	D	0.54601	0.967	P	0.56343	0.796	D	0.92252	0.5809	10	0.66056	D	0.02	.	16.7056	0.85371	0.0:0.0:1.0:0.0	.	347	Q969G2	LHX4_HUMAN	E	347	ENSP00000263726:G347E	ENSP00000263726:G347E	G	+	2	0	LHX4	178510204	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	7.324000	0.79115	2.662000	0.90505	0.655000	0.94253	GGA		0.572	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		70	1027	0	0	0	1	0	70	1027				
H1F0	3005	broad.mit.edu	37	22	38201974	38201974	+	Silent	SNP	C	C	A	rs370894514	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:38201974C>A	ENST00000340857.2	+	1	861	c.423C>A	c.(421-423)acC>acA	p.T141T	GCAT_ENST00000248924.6_5'Flank|GCAT_ENST00000323205.6_5'Flank	NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	141					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|nucleosome assembly (GO:0006334)	actin cytoskeleton (GO:0015629)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.T141T(1)		cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					CCAAAGCCACCCCGGTCAAGA	0.532																																					NSCLC(191;1872 2984 30230 41544)|Esophageal Squamous(4;11 371 39444 52196)	ENST00000340857.2																			1	Substitution - coding silent(1)	p.T141T(1)	kidney(1)	cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7						c.(421-423)acC>acA		H1 histone family, member 0							61.0	65.0	64.0					22																	38201974		2202	4300	6502	SO:0001819	synonymous_variant	3005				DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding	g.chr22:38201974C>A	X03473	CCDS13956.1	22q13.1	2011-01-27			ENSG00000189060	ENSG00000189060		"""Histones / Replication-independent"""	4714	protein-coding gene	gene with protein product	"""H1.0, H1(0), H1-0"""	142708		H1FV		3084796	Standard	NM_005318		Approved	H10	uc003aty.3	P07305	OTTHUMG00000150659	ENST00000340857.2:c.423C>A	22.37:g.38201974C>A			Somatic					p.T141T	NM_005318.3	NP_005309.1	WXS	Illumina GAIIx	Phase_I	P07305	H10_HUMAN			1	861	+	Melanoma(58;0.045)		141					B2R6I0|B4DRD6|Q6FG88|Q8N6R3	Silent	SNP	ENST00000340857.2	37	c.423C>A	CCDS13956.1																																																																																				0.532	H1F0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319453.1	NM_005318		17	27	1	0	0.575678	1	0.578452	17	27				
DENND2C	163259	broad.mit.edu	37	1	115137133	115137133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:115137133G>A	ENST00000393274.1	-	18	3017	c.2392C>T	c.(2392-2394)Cga>Tga	p.R798*	DENND2C_ENST00000393276.3_Nonsense_Mutation_p.R741*|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Nonsense_Mutation_p.R686*	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	798					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R741*(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTTCATTTCGTTCTTCCAAA	0.358																																						ENST00000393274.1																			1	Substitution - Nonsense(1)	p.R741*(1)	kidney(1)	NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(2392-2394)Cga>Tga		DENN/MADD domain containing 2C							143.0	139.0	140.0					1																	115137133		2203	4300	6503	SO:0001587	stop_gained	163259							g.chr1:115137133G>A		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2392C>T	1.37:g.115137133G>A	ENSP00000376955:p.Arg798*		Somatic				DENND2C_ENST00000393276.3_Nonsense_Mutation_p.R741*|DENND2C_ENST00000393277.1_Nonsense_Mutation_p.R686*|DENND2C_ENST00000481894.1_5'UTR	p.R798*	NM_001256404.1	NP_001243333.1	WXS	Illumina GAIIx	Phase_I	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	18	3017	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	798					B1AL26|Q5TCX6|Q6P3R3	Nonsense_Mutation	SNP	ENST00000393274.1	37	c.2392C>T	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	G	45	11.590686	0.99580	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.737	0.62824	0.0:0.0:0.7314:0.2686	.	.	.	.	X	741;798;798;686	.	ENSP00000358553:R798X	R	-	1	2	DENND2C	114938656	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.921000	0.48852	2.822000	0.97130	0.558000	0.71614	CGA		0.358	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		25	119	0	0	0	1	0	25	119				
ARSJ	79642	broad.mit.edu	37	4	114824336	114824336	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:114824336G>A	ENST00000315366.7	-	2	1760	c.894C>T	c.(892-894)tcC>tcT	p.S298S	ARSJ_ENST00000541197.1_Silent_p.S298S	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	298					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CATCTAAGCAGGAAAGCATGG	0.418																																						ENST00000315366.7																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21						c.(892-894)tcC>tcT		arylsulfatase family, member J							136.0	125.0	129.0					4																	114824336		1977	4180	6157	SO:0001819	synonymous_variant	79642					extracellular region	arylsulfatase activity|metal ion binding	g.chr4:114824336G>A		CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.894C>T	4.37:g.114824336G>A			Somatic				ARSJ_ENST00000541197.1_Silent_p.S298S	p.S298S	NM_024590.3	NP_078866.3	WXS	Illumina GAIIx	Phase_I	Q5FYB0	ARSJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	2	1760	-		Ovarian(17;0.0035)|Hepatocellular(203;0.217)	298					A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Silent	SNP	ENST00000315366.7	37	c.894C>T	CCDS43264.1																																																																																				0.418	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590		19	131	0	0	0	1	0	19	131				
LAMP5	24141	broad.mit.edu	37	20	9498708	9498708	+	Missense_Mutation	SNP	C	C	T	rs369320779		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:9498708C>T	ENST00000246070.2	+	5	989	c.497C>T	c.(496-498)tCg>tTg	p.S166L	LAMP5_ENST00000427562.2_Missense_Mutation_p.S122L	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	166						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											ACAGCCAACTCGCACCACCTC	0.532																																						ENST00000246070.2																			0											c.(496-498)tCg>tTg		lysosomal-associated membrane protein family, member 5							101.0	80.0	87.0					20																	9498708		2203	4300	6503	SO:0001583	missense	24141					integral to membrane		g.chr20:9498708C>T	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.497C>T	20.37:g.9498708C>T	ENSP00000246070:p.Ser166Leu		Somatic				LAMP5_ENST00000427562.2_Missense_Mutation_p.S122L	p.S166L	NM_012261.3	NP_036393.1	WXS	Illumina GAIIx	Phase_I	Q9UJQ1	CT103_HUMAN			5	989	+			166					B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	c.497C>T	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440871	0.63067	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.33438	1.41;1.41	5.93	5.93	0.95920	.	0.252217	0.40064	N	0.001182	T	0.22399	0.0540	N	0.14661	0.345	0.53688	D	0.99997	D;B	0.62365	0.991;0.233	P;B	0.44518	0.452;0.019	T	0.01853	-1.1260	9	.	.	.	-10.7048	15.7912	0.78367	0.0:0.8647:0.1353:0.0	.	122;166	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	L	166;122	ENSP00000246070:S166L;ENSP00000406360:S122L	.	S	+	2	0	C20orf103	9446708	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.577000	0.67444	2.826000	0.97356	0.655000	0.94253	TCG		0.532	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		4	163	0	0	0	1	0	4	163				
RANBP2	5903	broad.mit.edu	37	2	109371542	109371542	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:109371542T>A	ENST00000283195.6	+	16	2508		c.e16+2			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGTTACAAGGTAAACAGGAAA	0.299																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.e16+2		RAN binding protein 2							60.0	66.0	64.0					2																	109371542		2180	4274	6454	SO:0001630	splice_region_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371542T>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2382+2T>A	2.37:g.109371542T>A			Somatic						NM_006267.4	NP_006258.3	WXS	Illumina GAIIx	Phase_I	P49792	RBP2_HUMAN			16	2508	+								Q13074|Q15280|Q53TE2|Q59FH7	Splice_Site	SNP	ENST00000283195.6	37		CCDS2079.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.459393	0.26248	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.77	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6828	0.40080	0.0:0.0796:0.0:0.9204	.	.	.	.	.	-1	.	.	.	+	.	.	RANBP2	108737974	1.000000	0.71417	0.956000	0.39512	0.101000	0.19017	4.633000	0.61318	1.020000	0.39573	0.443000	0.29094	.		0.299	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Intron	5	181	0	0	0	1	0	5	181				
SNHG14	104472715	broad.mit.edu	37	15	25492361	25492361	+	RNA	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:25492361C>T	ENST00000453082.2	+	0	2822				SNORD115-43_ENST00000365503.1_RNA|SNORD115-41_ENST00000363608.1_RNA|SNORD115-42_ENST00000364273.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		CAGTGGCCATCAGCCTGTTGC	0.607																																						ENST00000453082.2																			0																																																			104472715							g.chr15:25492361C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25492361C>T			Somatic						NR_003343.1		WXS	Illumina GAIIx	Phase_I					0	2822	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.607	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			3	34	0	0	0	1	0	3	34				
IGDCC4	57722	broad.mit.edu	37	15	65686806	65686806	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:65686806T>G	ENST00000352385.2	-	9	1866	c.1657A>C	c.(1657-1659)Agc>Cgc	p.S553R		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	553	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTGCTCAGGCTGGGGGGCAGG	0.597																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(1657-1659)Agc>Cgc		immunoglobulin superfamily, DCC subclass, member 4							113.0	105.0	108.0					15																	65686806		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65686806T>G		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1657A>C	15.37:g.65686806T>G	ENSP00000319623:p.Ser553Arg		Somatic					p.S553R	NM_020962.1	NP_066013.1	WXS	Illumina GAIIx	Phase_I	Q8TDY8	IGDC4_HUMAN			9	1866	-			553			Fibronectin type-III 2.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.1657A>C	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.591714	0.46214	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.54866	0.55	5.43	-0.988	0.10245	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.496832	0.22138	N	0.064098	T	0.41166	0.1147	L	0.50333	1.59	0.31012	N	0.719155	B	0.33318	0.408	B	0.37198	0.243	T	0.39014	-0.9634	10	0.27082	T	0.32	-7.6881	6.8874	0.24209	0.1773:0.5934:0.0:0.2293	.	553	Q8TDY8	IGDC4_HUMAN	R	553;282	ENSP00000319623:S553R	ENSP00000319623:S553R	S	-	1	0	IGDCC4	63473859	0.668000	0.27493	0.977000	0.42913	0.961000	0.63080	1.115000	0.31209	0.056000	0.16144	-0.256000	0.11100	AGC		0.597	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		5	130	0	0	0	1	0	5	130				
CRIPAK	285464	broad.mit.edu	37	4	1388799	1388799	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:1388799C>T	ENST00000324803.4	+	1	3460	c.500C>T	c.(499-501)cCg>cTg	p.P167L		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	167					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P167Q(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGGAGTGCCCGCCTGCTCAC	0.687																																						ENST00000324803.4																			1	Substitution - Missense(1)	p.P167Q(1)	lung(1)	NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(499-501)cCg>cTg		cysteine-rich PAK1 inhibitor							183.0	124.0	144.0					4																	1388799		2201	4275	6476	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388799C>T	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.500C>T	4.37:g.1388799C>T	ENSP00000323978:p.Pro167Leu		Somatic					p.P167L	NM_175918.3	NP_787114.2	WXS	Illumina GAIIx	Phase_I	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3460	+			167					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.500C>T	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	c	6.283	0.420305	0.11928	.	.	ENSG00000179979	ENST00000324803	T	0.22336	1.96	1.25	-2.49	0.06403	.	.	.	.	.	T	0.07954	0.0199	N	0.08118	0	0.09310	N	1	B	0.18968	0.032	B	0.06405	0.002	T	0.29852	-0.9998	9	0.87932	D	0	.	0.4323	0.00473	0.2491:0.3099:0.2476:0.1934	.	167	Q8N1N5	CRPAK_HUMAN	L	167	ENSP00000323978:P167L	ENSP00000323978:P167L	P	+	2	0	CRIPAK	1378799	0.001000	0.12720	0.000000	0.03702	0.025000	0.11179	0.100000	0.15231	-0.657000	0.05373	0.121000	0.15741	CCG		0.687	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		7	257	0	0	0	1	0	7	257				
ZZEF1	23140	broad.mit.edu	37	17	3962582	3962582	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:3962582T>A	ENST00000381638.2	-	31	5010	c.4886A>T	c.(4885-4887)tAt>tTt	p.Y1629F	RNA5SP434_ENST00000516647.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1629							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTGTCCAAAATAACTAGAAAC	0.348																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(4885-4887)tAt>tTt		zinc finger, ZZ-type with EF-hand domain 1							81.0	77.0	79.0					17																	3962582		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3962582T>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4886A>T	17.37:g.3962582T>A	ENSP00000371051:p.Tyr1629Phe		Somatic					p.Y1629F	NM_015113.3	NP_055928.3	WXS	Illumina GAIIx	Phase_I	O43149	ZZEF1_HUMAN			31	5010	-			1629					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.4886A>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.441698	0.83993	.	.	ENSG00000074755	ENST00000381638	T	0.30182	1.54	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	M	0.62723	1.935	0.54753	D	0.999984	D;D	0.67145	0.996;0.993	D;P	0.64321	0.924;0.842	T	0.52845	-0.8521	10	0.59425	D	0.04	-12.7337	15.1298	0.72514	0.0:0.0:0.0:1.0	.	1629;1629	O43149-2;O43149	.;ZZEF1_HUMAN	F	1629	ENSP00000371051:Y1629F	ENSP00000371051:Y1629F	Y	-	2	0	ZZEF1	3909331	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.855000	0.69510	1.981000	0.57761	0.454000	0.30748	TAT		0.348	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		4	115	0	0	0	1	0	4	115				
FANCA	2175	broad.mit.edu	37	16	89838183	89838183	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:89838183C>T	ENST00000389301.3	-	23	2084	c.2054G>A	c.(2053-2055)aGg>aAg	p.R685K	FANCA_ENST00000568369.1_Missense_Mutation_p.R685K|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	685					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R685K(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CAGGACAGCCCTCAGTCTTTC	0.517			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			1	Substitution - Missense(1)	p.R685K(1)	kidney(1)	breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(2053-2055)aGg>aAg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							134.0	111.0	118.0					16																	89838183		2198	4300	6498	SO:0001583	missense	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89838183C>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2054G>A	16.37:g.89838183C>T	ENSP00000373952:p.Arg685Lys		Somatic				FANCA_ENST00000567284.2_5'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.R685K	p.R685K	NM_000135.2	NP_000126.2	WXS	Illumina GAIIx	Phase_I	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	23	2084	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	685					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.2054G>A	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	C	3.492	-0.103691	0.06967	.	.	ENSG00000187741	ENST00000389301	D	0.83591	-1.74	4.45	-4.06	0.03986	.	3.134130	0.00718	N	0.000862	T	0.67325	0.2881	N	0.16368	0.405	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.63462	-0.6632	10	0.02654	T	1	1.9262	10.9509	0.47327	0.0:0.3362:0.0:0.6638	.	685;685	B4DRI7;O15360	.;FANCA_HUMAN	K	685	ENSP00000373952:R685K	ENSP00000373952:R685K	R	-	2	0	FANCA	88365684	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	-3.269000	0.00532	-0.762000	0.04664	0.551000	0.68910	AGG		0.517	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			50	147	0	0	0	1	0	50	147				
KAT6A	7994	broad.mit.edu	37	8	41798514	41798514	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:41798514A>T	ENST00000396930.3	-	16	3428	c.2885T>A	c.(2884-2886)tTa>tAa	p.L962*	KAT6A_ENST00000265713.2_Nonsense_Mutation_p.L962*|KAT6A_ENST00000406337.1_Nonsense_Mutation_p.L962*	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	962					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TCCTTCTGTTAATCTGCACTT	0.592																																						ENST00000396930.3																			0											c.(2884-2886)tTa>tAa		K(lysine) acetyltransferase 6A							116.0	114.0	115.0					8																	41798514		2203	4300	6503	SO:0001587	stop_gained	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798514A>T	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2885T>A	8.37:g.41798514A>T	ENSP00000380136:p.Leu962*		Somatic				KAT6A_ENST00000265713.2_Nonsense_Mutation_p.L962*|KAT6A_ENST00000406337.1_Nonsense_Mutation_p.L962*	p.L962*	NM_001099412.1	NP_001092882.1	WXS	Illumina GAIIx	Phase_I	Q92794	MYST3_HUMAN			16	3428	-			962					Q76L81	Nonsense_Mutation	SNP	ENST00000396930.3	37	c.2885T>A	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	A	40	8.358809	0.98777	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	.	.	.	5.36	2.95	0.34219	.	0.415793	0.18517	N	0.138861	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.029	7.9702	0.30124	0.7912:0.1376:0.0712:0.0	.	.	.	.	X	962;962;962;542	.	ENSP00000265713:L962X	L	-	2	0	KAT6A	41917671	0.406000	0.25344	0.000000	0.03702	0.000000	0.00434	5.425000	0.66470	0.336000	0.23639	-0.323000	0.08544	TTA		0.592	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		10	1673	0	0	0	1	0	10	1673				
TRAF2	7186	broad.mit.edu	37	9	139802586	139802586	+	Missense_Mutation	SNP	G	G	T	rs377582627		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:139802586G>T	ENST00000247668.2	+	5	483	c.431G>T	c.(430-432)cGc>cTc	p.R144L	TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000359662.3_Missense_Mutation_p.R196L|TRAF2_ENST00000536468.1_Missense_Mutation_p.R144L	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	144					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GGCCTGGTCCGCCTTGGTGAA	0.642																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(586-588)cGc>cTc		TNF receptor-associated factor 2							50.0	51.0	50.0					9																	139802586		2203	4300	6503	SO:0001583	missense	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139802586G>T	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.431G>T	9.37:g.139802586G>T	ENSP00000247668:p.Arg144Leu		Somatic				TRAF2_ENST00000247668.2_Missense_Mutation_p.R144L|TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Missense_Mutation_p.R144L	p.R196L			WXS	Illumina GAIIx	Phase_I	Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	5	632	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	144					A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.587G>T	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423477	0.25639	.	.	ENSG00000127191	ENST00000419057;ENST00000536468;ENST00000429509;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T;T;T	0.37235	1.86;1.44;1.86;1.44;1.21	4.16	3.17	0.36434	Zinc finger, TRAF-type (1);	0.222996	0.34156	N	0.004204	T	0.18551	0.0445	N	0.16098	0.37	0.09310	N	1	B;B;B;B	0.16396	0.003;0.005;0.017;0.002	B;B;B;B	0.20955	0.022;0.022;0.032;0.004	T	0.09422	-1.0675	10	0.26408	T	0.33	-49.91	6.7078	0.23260	0.1136:0.1871:0.6994:0.0	.	133;144;196;144	Q12933-3;Q12933-4;Q12933-2;Q12933	.;.;.;TRAF2_HUMAN	L	144;144;144;168;144;196;196	ENSP00000405860:R144L;ENSP00000446414:R144L;ENSP00000406524:R144L;ENSP00000247668:R144L;ENSP00000352685:R196L	ENSP00000247668:R144L	R	+	2	0	TRAF2	138922407	0.001000	0.12720	1.000000	0.80357	0.804000	0.45430	0.793000	0.26944	2.162000	0.67917	0.561000	0.74099	CGC		0.642	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		5	59	1	0	0.0215528	1	0.0218674	5	59				
IL7R	3575	broad.mit.edu	37	5	35871222	35871222	+	Silent	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:35871222G>T	ENST00000303115.3	+	4	573	c.444G>T	c.(442-444)gtG>gtT	p.V148V	IL7R_ENST00000343305.4_Silent_p.V148V|IL7R_ENST00000506850.1_Silent_p.V148V	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	148	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.V148V(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACTTTGTGGTGACATTTAATA	0.388			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		1	Substitution - coding silent(1)	p.V148V(1)	kidney(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(442-444)gtG>gtT		interleukin 7 receptor							81.0	79.0	79.0					5																	35871222		2203	4300	6503	SO:0001819	synonymous_variant	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35871222G>T	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.444G>T	5.37:g.35871222G>T			Somatic				IL7R_ENST00000506850.1_Silent_p.V148V|IL7R_ENST00000343305.4_Silent_p.V148V	p.V148V	NM_002185.3	NP_002176.2	WXS	Illumina GAIIx	Phase_I	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		4	573	+	all_lung(31;0.00015)		148			Fibronectin type-III.		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Silent	SNP	ENST00000303115.3	37	c.444G>T	CCDS3911.1																																																																																				0.388	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			27	69	1	0	6.38683e-12	1	6.67496e-12	27	69				
RHOBTB3	22836	broad.mit.edu	37	5	95087941	95087941	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:95087941A>T	ENST00000379982.3	+	5	1078		c.e5-1		GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3						ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TTCCTGTTTTAGTTGGAGTAT	0.303																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.e5-1		Rho-related BTB domain containing 3							72.0	75.0	74.0					5																	95087941		2203	4298	6501	SO:0001630	splice_region_variant	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95087941A>T	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.571-1A>T	5.37:g.95087941A>T			Somatic				GLRX_ENST00000508780.1_Intron		NM_014899.3	NP_055714.3	WXS	Illumina GAIIx	Phase_I	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	5	1078	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)						A0PJA4|A8K1W9|Q8IW06	Splice_Site	SNP	ENST00000379982.3	37		CCDS4077.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959638	0.74016	.	.	ENSG00000164292	ENST00000379982	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5765	0.76392	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RHOBTB3	95113697	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.557000	0.73937	2.213000	0.71641	0.477000	0.44152	.		0.303	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899	Intron	6	57	0	0	0	1	0	6	57				
TUBA3E	112714	broad.mit.edu	37	2	130952659	130952659	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:130952659C>T	ENST00000312988.7	-	3	468	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	123					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R123H(1)		endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TACCAGTTTGCGGATCCGGTC	0.498																																						ENST00000312988.7																			1	Substitution - Missense(1)	p.R123H(1)	large_intestine(1)	endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(367-369)cGc>cAc		tubulin, alpha 3e							148.0	142.0	144.0					2																	130952659		2203	4300	6503	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130952659C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.368G>A	2.37:g.130952659C>T	ENSP00000318197:p.Arg123His		Somatic					p.R123H	NM_207312.2	NP_997195.1	WXS	Illumina GAIIx	Phase_I	Q6PEY2	TBA3E_HUMAN			3	468	-	Colorectal(110;0.1)		123						Missense_Mutation	SNP	ENST00000312988.7	37	c.368G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	12.44	1.938632	0.34189	.	.	ENSG00000152086	ENST00000312988	T	0.72615	-0.67	2.95	2.95	0.34219	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.51477	U	0.000088	D	0.86648	0.5983	H	0.97103	3.94	0.47994	D	0.999563	B	0.32968	0.392	P	0.51135	0.66	D	0.89058	0.3460	10	0.72032	D	0.01	.	11.6556	0.51315	0.0:1.0:0.0:0.0	.	123	Q6PEY2	TBA3E_HUMAN	H	123	ENSP00000318197:R123H	ENSP00000318197:R123H	R	-	2	0	TUBA3E	130669129	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.473000	0.73572	1.656000	0.50722	0.455000	0.32223	CGC		0.498	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		4	474	0	0	0	1	0	4	474				
PNMA1	9240	broad.mit.edu	37	14	74179820	74179820	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:74179820C>T	ENST00000316836.3	-	1	1308	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	175					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		tcaaaggtttcctctccaggc	0.498																																						ENST00000316836.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13						c.(523-525)Gaa>Aaa		paraneoplastic Ma antigen 1							49.0	49.0	49.0					14																	74179820		2203	4300	6503	SO:0001583	missense	9240				apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding	g.chr14:74179820C>T	AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.523G>A	14.37:g.74179820C>T	ENSP00000318914:p.Glu175Lys		Somatic					p.E175K	NM_006029.4	NP_006020.4	WXS	Illumina GAIIx	Phase_I	Q8ND90	PNMA1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)	1	1308	-			175					A8K4L5|O95144|Q8NG07	Missense_Mutation	SNP	ENST00000316836.3	37	c.523G>A	CCDS9818.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611546	0.66558	.	.	ENSG00000176903	ENST00000316836	T	0.14022	2.54	3.9	3.9	0.45041	.	0.000000	0.47852	D	0.000213	T	0.35653	0.0939	M	0.78344	2.41	0.37531	D	0.917908	D	0.89917	1.0	D	0.76575	0.988	T	0.34601	-0.9822	10	0.66056	D	0.02	-16.3288	11.6899	0.51510	0.0:1.0:0.0:0.0	.	175	Q8ND90	PNMA1_HUMAN	K	175	ENSP00000318914:E175K	ENSP00000318914:E175K	E	-	1	0	PNMA1	73249573	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.984000	0.49353	2.475000	0.83589	0.655000	0.94253	GAA		0.498	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1	NM_006029		4	58	0	0	0	1	0	4	58				
ITGAL	3683	broad.mit.edu	37	16	30521685	30521685	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:30521685C>T	ENST00000356798.6	+	22	2692	c.2512C>T	c.(2512-2514)Cat>Tat	p.H838Y	ITGAL_ENST00000358164.5_Missense_Mutation_p.H754Y|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	838					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CTCCCAGCCCCATAGCCAGAT	0.562																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2512-2514)Cat>Tat		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						133.0	123.0	127.0					16																	30521685		2197	4300	6497	SO:0001583	missense	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30521685C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2512C>T	16.37:g.30521685C>T	ENSP00000349252:p.His838Tyr		Somatic				ITGAL_ENST00000358164.5_Missense_Mutation_p.H754Y|ITGAL_ENST00000433423.2_Intron	p.H838Y	NM_002209.2	NP_002200.2	WXS	Illumina GAIIx	Phase_I	P20701	ITAL_HUMAN			22	2692	+			838					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2512C>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	c	13.61	2.288828	0.40494	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.45276	0.9;0.9	4.45	3.48	0.39840	Integrin alpha-2 (1);	0.000000	0.44285	D	0.000463	T	0.50718	0.1632	M	0.73962	2.25	0.80722	D	1	D;P	0.56287	0.975;0.945	P;P	0.57009	0.811;0.74	T	0.55496	-0.8132	10	0.07175	T	0.84	.	10.1929	0.43037	0.2146:0.7854:0.0:0.0	.	754;838	Q96HB1;P20701	.;ITAL_HUMAN	Y	838;754	ENSP00000349252:H838Y;ENSP00000350886:H754Y	ENSP00000349252:H838Y	H	+	1	0	ITGAL	30429186	0.771000	0.28555	0.979000	0.43373	0.191000	0.23601	1.290000	0.33319	1.163000	0.42636	0.187000	0.17357	CAT		0.562	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			13	412	0	0	0	1	0	13	412				
PCDHGA11	56105	broad.mit.edu	37	5	140801364	140801364	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:140801364C>T	ENST00000398587.2	+	1	603	c.570C>T	c.(568-570)gcC>gcT	p.A190A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Silent_p.A190A|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	190	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATGGGGCCAAGAATCCAG	0.552																																						ENST00000398587.2																			0				breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(568-570)gcC>gcT									40.0	43.0	42.0					5																	140801364		1977	4167	6144	SO:0001819	synonymous_variant	56105							g.chr5:140801364C>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.570C>T	5.37:g.140801364C>T			Somatic				PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.A190A|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	p.A190A	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	603	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	ENST00000398587.2	37	c.570C>T	CCDS47294.1																																																																																				0.552	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		35	50	0	0	0	1	0	35	50				
AAMP	14	broad.mit.edu	37	2	219131621	219131621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:219131621C>T	ENST00000248450.4	-	4	653	c.483G>A	c.(481-483)tgG>tgA	p.W161*	AAMP_ENST00000444053.1_Nonsense_Mutation_p.W162*|AAMP_ENST00000420660.1_Nonsense_Mutation_p.W142*			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	161					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCCACCTGCCACACTTTCA	0.537																																						ENST00000248450.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11						c.(481-483)tgG>tgA		angio-associated, migratory cell protein							79.0	82.0	81.0					2																	219131621		2203	4300	6503	SO:0001587	stop_gained	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219131621C>T	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"""WD repeat domain containing"""	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.483G>A	2.37:g.219131621C>T	ENSP00000248450:p.Trp161*		Somatic				AAMP_ENST00000444053.1_Nonsense_Mutation_p.W162*|AAMP_ENST00000420660.1_Nonsense_Mutation_p.W142*	p.W161*			WXS	Illumina GAIIx	Phase_I	Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	653	-		Renal(207;0.0474)	161					Q8WUJ9|Q96H92	Nonsense_Mutation	SNP	ENST00000248450.4	37	c.483G>A	CCDS33378.1	.	.	.	.	.	.	.	.	.	.	C	38	6.858401	0.97889	.	.	ENSG00000127837	ENST00000248450;ENST00000444053;ENST00000420660;ENST00000447885	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7876	18.8213	0.92099	0.0:1.0:0.0:0.0	.	.	.	.	X	161;162;142;115	.	ENSP00000248450:W161X	W	-	3	0	AAMP	218839865	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	2.421000	0.82119	0.655000	0.94253	TGG		0.537	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		3	79	0	0	0	1	0	3	79				
TET2	54790	broad.mit.edu	37	4	106156899	106156899	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:106156899G>A	ENST00000540549.1	+	3	2660	c.1800G>A	c.(1798-1800)atG>atA	p.M600I	TET2_ENST00000513237.1_Missense_Mutation_p.M621I|TET2_ENST00000413648.2_Missense_Mutation_p.M600I|TET2_ENST00000545826.1_Missense_Mutation_p.M600I|TET2_ENST00000380013.4_Missense_Mutation_p.M600I|TET2_ENST00000305737.2_Missense_Mutation_p.M600I|TET2_ENST00000394764.1_Missense_Mutation_p.M600I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	600	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CCAATCAAATGACCTCCAAAC	0.468			"""Mis N, F"""		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(1861-1863)atG>atA		tet methylcytosine dioxygenase 2							63.0	63.0	63.0					4																	106156899		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106156899G>A	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1800G>A	4.37:g.106156899G>A	ENSP00000442788:p.Met600Ile		Somatic				TET2_ENST00000394764.1_Missense_Mutation_p.M600I|TET2_ENST00000305737.2_Missense_Mutation_p.M600I|TET2_ENST00000413648.2_Missense_Mutation_p.M600I|TET2_ENST00000545826.1_Missense_Mutation_p.M600I|TET2_ENST00000540549.1_Missense_Mutation_p.M600I|TET2_ENST00000380013.4_Missense_Mutation_p.M600I	p.M621I			WXS	Illumina GAIIx	Phase_I	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2660	+		Myeloproliferative disorder(5;0.0393)	600			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.1863G>A	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	G	9.990	1.230463	0.22542	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.59	2.94	0.34122	.	4.190850	0.00496	N	0.000143	T	0.13286	0.0322	N	0.14661	0.345	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.001;0.003	T	0.24154	-1.0168	10	0.18710	T	0.47	.	4.6426	0.12556	0.307:0.0:0.5427:0.1504	.	621;600;600	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	I	600;600;600;621;600;600;600;600	ENSP00000306705:M600I;ENSP00000442788:M600I;ENSP00000442867:M600I;ENSP00000425443:M621I;ENSP00000369351:M600I;ENSP00000378245:M600I;ENSP00000391448:M600I	ENSP00000265149:M600I	M	+	3	0	TET2	106376348	0.000000	0.05858	0.938000	0.37757	0.930000	0.56654	-0.117000	0.10708	0.311000	0.23014	0.650000	0.86243	ATG		0.468	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		4	92	0	0	0	1	0	4	92				
DENND2D	79961	broad.mit.edu	37	1	111734916	111734916	+	Missense_Mutation	SNP	G	G	T	rs376513608		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:111734916G>T	ENST00000357640.4	-	8	1047	c.818C>A	c.(817-819)gCt>gAt	p.A273D	DENND2D_ENST00000473682.1_5'Flank|DENND2D_ENST00000369752.5_Missense_Mutation_p.A270D	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	273	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A273D(1)|p.A273E(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TGCGGCAGCAGCATGGATGCA	0.627																																						ENST00000357640.4																			2	Substitution - Missense(2)	p.A273D(1)|p.A273E(1)	kidney(2)	breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(817-819)gCt>gAt		DENN/MADD domain containing 2D							68.0	58.0	62.0					1																	111734916		2203	4300	6503	SO:0001583	missense	79961							g.chr1:111734916G>T		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.818C>A	1.37:g.111734916G>T	ENSP00000350266:p.Ala273Asp		Somatic				DENND2D_ENST00000369752.5_Missense_Mutation_p.A270D	p.A273D	NM_024901.3	NP_079177.2	WXS	Illumina GAIIx	Phase_I	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	8	1047	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	273			DENN.		Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	c.818C>A	CCDS831.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697118	0.88830	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.19938	2.11;2.11	5.5	5.5	0.81552	DENN (3);	0.000000	0.85682	D	0.000000	T	0.51500	0.1678	M	0.92555	3.32	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62632	-0.6813	10	0.87932	D	0	-14.0475	17.249	0.87037	0.0:0.0:1.0:0.0	.	270;273	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	D	273;270	ENSP00000350266:A273D;ENSP00000358767:A270D	ENSP00000350266:A273D	A	-	2	0	DENND2D	111536439	1.000000	0.71417	0.979000	0.43373	0.794000	0.44872	9.420000	0.97426	2.750000	0.94351	0.467000	0.42956	GCT		0.627	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		45	91	1	0	1.56989e-16	1	1.64898e-16	45	91				
DENND2D	79961	broad.mit.edu	37	1	111734915	111734915	+	Silent	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:111734915A>C	ENST00000357640.4	-	8	1048	c.819T>G	c.(817-819)gcT>gcG	p.A273A	DENND2D_ENST00000473682.1_5'Flank|DENND2D_ENST00000369752.5_Silent_p.A270A	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	273	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A273E(1)|p.A273A(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GTGCGGCAGCAGCATGGATGC	0.632																																						ENST00000357640.4																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.A273E(1)|p.A273A(1)	kidney(2)	breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(817-819)gcT>gcG		DENN/MADD domain containing 2D							69.0	59.0	62.0					1																	111734915		2203	4300	6503	SO:0001819	synonymous_variant	79961							g.chr1:111734915A>C		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.819T>G	1.37:g.111734915A>C			Somatic				DENND2D_ENST00000369752.5_Silent_p.A270A	p.A273A	NM_024901.3	NP_079177.2	WXS	Illumina GAIIx	Phase_I	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	8	1048	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	273			DENN.		Q5T5V6|Q9BSU0	Silent	SNP	ENST00000357640.4	37	c.819T>G	CCDS831.1																																																																																				0.632	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		44	94	0	0	0	1	0	44	94				
RYR2	6262	broad.mit.edu	37	1	237948244	237948244	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:237948244C>T	ENST00000366574.2	+	90	13549	c.13232C>T	c.(13231-13233)cCc>cTc	p.P4411L	RYR2_ENST00000360064.6_Missense_Mutation_p.P4417L|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.P4395L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4411					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACCCAGTCCCCATGCCTGAG	0.448																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(13231-13233)cCc>cTc		ryanodine receptor 2 (cardiac)							21.0	19.0	20.0					1																	237948244		1899	4135	6034	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237948244C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13232C>T	1.37:g.237948244C>T	ENSP00000355533:p.Pro4411Leu		Somatic				RYR2_ENST00000360064.6_Missense_Mutation_p.P4417L|RYR2_ENST00000542537.1_Missense_Mutation_p.P4395L	p.P4411L	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13549	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4411					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.13232C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	5.496	0.276558	0.10403	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.93189	-3.18;-3.18;-3.18	5.88	4.96	0.65561	Ryanodine Receptor TM 4-6 (1);	0.177647	0.35525	N	0.003152	D	0.92018	0.7471	N	0.16368	0.405	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	D	0.88235	0.2906	10	0.06494	T	0.89	-12.0652	15.322	0.74129	0.0:0.9325:0.0:0.0675	.	1385;4411	B4DGV4;Q92736	.;RYR2_HUMAN	L	4411;4417;4395;1385	ENSP00000355533:P4411L;ENSP00000353174:P4417L;ENSP00000443798:P4395L	ENSP00000353174:P4417L	P	+	2	0	RYR2	236014867	0.997000	0.39634	0.755000	0.31263	0.048000	0.14542	5.192000	0.65115	1.466000	0.48025	0.655000	0.94253	CCC		0.448	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	46	0	0	0	1	0	6	46				
XYLT1	64131	broad.mit.edu	37	16	17252757	17252757	+	Missense_Mutation	SNP	G	G	C	rs147074504	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:17252757G>C	ENST00000261381.6	-	6	1383	c.1299C>G	c.(1297-1299)gaC>gaG	p.D433E		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	433					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCACCAACTGGTCATTTGTCC	0.498																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1297-1299)gaC>gaG		xylosyltransferase I							86.0	80.0	82.0					16																	17252757		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17252757G>C	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1299C>G	16.37:g.17252757G>C	ENSP00000261381:p.Asp433Glu		Somatic					p.D433E	NM_022166.3	NP_071449.1	WXS	Illumina GAIIx	Phase_I	Q86Y38	XYLT1_HUMAN			6	1383	-			433					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.1299C>G	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.868575	0.32977	.	.	ENSG00000103489	ENST00000261381	T	0.11712	2.75	4.9	2.7	0.31948	.	0.045732	0.85682	D	0.000000	T	0.09862	0.0242	L	0.35723	1.085	0.50467	D	0.999877	P	0.38148	0.62	B	0.40066	0.318	T	0.23797	-1.0178	10	0.24483	T	0.36	-42.3979	11.1505	0.48455	0.1964:0.0:0.8036:0.0	.	433	Q86Y38	XYLT1_HUMAN	E	433	ENSP00000261381:D433E	ENSP00000261381:D433E	D	-	3	2	XYLT1	17160258	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.117000	0.31234	0.494000	0.27859	0.563000	0.77884	GAC		0.498	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		5	239	0	0	0	1	0	5	239				
TBX3	6926	broad.mit.edu	37	12	115120913	115120913	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:115120913G>A	ENST00000257566.3	-	1	482	c.93C>T	c.(91-93)agC>agT	p.S31S	TBX3_ENST00000349155.2_Silent_p.S31S	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	31					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CCAGCACCGCGCTCATGGCGA	0.682											OREG0022153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(91-93)agC>agT		T-box 3							24.0	27.0	26.0					12																	115120913		2125	4212	6337	SO:0001819	synonymous_variant	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115120913G>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.93C>T	12.37:g.115120913G>A			Somatic	OREG0022153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1463	TBX3_ENST00000257566.3_Silent_p.S31S	p.S31S	NM_005996.3	NP_005987.3	WXS	Illumina GAIIx	Phase_I	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	1	1056	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		31					Q8TB20|Q9UKF8	Silent	SNP	ENST00000257566.3	37	c.93C>T	CCDS9176.1																																																																																				0.682	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		9	76	0	0	0	1	0	9	76				
OSBPL2	9885	broad.mit.edu	37	20	60861652	60861652	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:60861652G>A	ENST00000313733.3	+	11	1212	c.1010G>A	c.(1009-1011)gGg>gAg	p.G337E	OSBPL2_ENST00000358053.2_Missense_Mutation_p.G325E|OSBPL2_ENST00000439951.2_Missense_Mutation_p.G245E	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	337					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GAAGACTCCGGGAAGGCTGAC	0.632																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1009-1011)gGg>gAg		oxysterol binding protein-like 2							103.0	98.0	99.0					20																	60861652		2203	4300	6503	SO:0001583	missense	9885				lipid transport		lipid binding	g.chr20:60861652G>A	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.1010G>A	20.37:g.60861652G>A	ENSP00000316649:p.Gly337Glu		Somatic				OSBPL2_ENST00000358053.2_Missense_Mutation_p.G325E|OSBPL2_ENST00000439951.2_Missense_Mutation_p.G245E	p.G337E	NM_144498.1	NP_653081.1	WXS	Illumina GAIIx	Phase_I	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		11	1212	+	Breast(26;7.76e-09)		337					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	c.1010G>A	CCDS13495.1	.	.	.	.	.	.	.	.	.	.	G	0.046	-1.266175	0.01433	.	.	ENSG00000130703	ENST00000358053;ENST00000313733;ENST00000439951	T;T;T	0.41065	1.06;1.06;1.01	4.65	2.3	0.28687	.	1.388800	0.04693	N	0.414479	T	0.15825	0.0381	N	0.02202	-0.64	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.30534	-0.9975	10	0.02654	T	1	-15.6688	3.3097	0.07013	0.5386:0.0:0.1043:0.3571	.	245;325;337	E7ET92;Q9H1P3-2;Q9H1P3	.;.;OSBL2_HUMAN	E	325;337;245	ENSP00000350755:G325E;ENSP00000316649:G337E;ENSP00000397602:G245E	ENSP00000316649:G337E	G	+	2	0	OSBPL2	60295047	0.322000	0.24634	0.001000	0.08648	0.000000	0.00434	0.923000	0.28757	0.159000	0.19401	-0.302000	0.09304	GGG		0.632	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		32	107	0	0	0	1	0	32	107				
VPS26A	9559	broad.mit.edu	37	10	70917845	70917845	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:70917845G>A	ENST00000373382.1	+	6	1082	c.429G>A	c.(427-429)ttG>ttA	p.L143L	VPS26A_ENST00000263559.6_Silent_p.L143L|VPS26A_ENST00000546041.1_Silent_p.L126L|VPS26A_ENST00000541711.1_Silent_p.L32L|VPS26A_ENST00000490696.1_Intron|VPS26A_ENST00000395098.1_Silent_p.L143L|VPS26A_ENST00000489794.1_Silent_p.L118L			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	143					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TGACAGATTTGGTAAAAGAGT	0.338																																					Colon(90;545 1358 4729 6702 16773)	ENST00000373382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						c.(427-429)ttG>ttA		vacuolar protein sorting 26 homolog A (S. pombe)							99.0	95.0	97.0					10																	70917845		2203	4300	6503	SO:0001819	synonymous_variant	9559				retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity	g.chr10:70917845G>A	AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"""vacuolar protein sorting 26 (yeast homolog)"", ""vacuolar protein sorting 26 (yeast)"", ""vacuolar protein sorting 26 homolog A (yeast)"""	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.429G>A	10.37:g.70917845G>A			Somatic				VPS26A_ENST00000490696.1_Intron|VPS26A_ENST00000489794.1_Silent_p.L118L|VPS26A_ENST00000546041.1_Silent_p.L126L|VPS26A_ENST00000541711.1_Silent_p.L32L|VPS26A_ENST00000263559.6_Silent_p.L143L|VPS26A_ENST00000395098.1_Silent_p.L143L	p.L143L			WXS	Illumina GAIIx	Phase_I	O75436	VP26A_HUMAN			6	1082	+			143					A8MZ56|B2RDD3|Q8TBH4|Q9H982	Silent	SNP	ENST00000373382.1	37	c.429G>A	CCDS7286.1																																																																																				0.338	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	NM_004896		4	37	0	0	0	1	0	4	37				
SF3B3	23450	broad.mit.edu	37	16	70605038	70605038	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:70605038C>T	ENST00000302516.5	+	25	3660	c.3449C>T	c.(3448-3450)tCt>tTt	p.S1150F		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1150					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CACCTGCGGTCTGAACATCCC	0.498																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(3448-3450)tCt>tTt		splicing factor 3b, subunit 3, 130kDa							150.0	141.0	144.0					16																	70605038		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70605038C>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3449C>T	16.37:g.70605038C>T	ENSP00000305790:p.Ser1150Phe		Somatic					p.S1150F	NM_012426.4	NP_036558.3	WXS	Illumina GAIIx	Phase_I	Q15393	SF3B3_HUMAN			25	3660	+		Ovarian(137;0.0694)	1150					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.3449C>T	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159716	0.94727	.	.	ENSG00000189091	ENST00000302516	T	0.47869	0.83	5.78	5.78	0.91487	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	M	0.77486	2.375	0.80722	D	1	P	0.36660	0.564	P	0.49561	0.615	T	0.67413	-0.5677	10	0.72032	D	0.01	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	1150	Q15393	SF3B3_HUMAN	F	1150	ENSP00000305790:S1150F	ENSP00000305790:S1150F	S	+	2	0	SF3B3	69162539	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.741000	0.84997	2.724000	0.93272	0.563000	0.77884	TCT		0.498	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		14	353	0	0	0	1	0	14	353				
CDH17	1015	broad.mit.edu	37	8	95182724	95182724	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:95182724G>A	ENST00000027335.3	-	9	1091	c.967C>T	c.(967-969)Ccg>Tcg	p.P323S	CDH17_ENST00000450165.2_Missense_Mutation_p.P323S|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	323	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATTTCCAGCGGATATGAAAGT	0.418																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(967-969)Ccg>Tcg		cadherin 17, LI cadherin (liver-intestine)							117.0	112.0	114.0					8																	95182724		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95182724G>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.967C>T	8.37:g.95182724G>A	ENSP00000027335:p.Pro323Ser		Somatic				CDH17_ENST00000450165.2_Missense_Mutation_p.P323S|CDH17_ENST00000441892.2_Intron	p.P323S	NM_004063.3	NP_004054.3	WXS	Illumina GAIIx	Phase_I	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		9	1091	-	Breast(36;4.65e-06)		323			Cadherin 3.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.967C>T	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496448	0.26861	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.51071	0.72;0.72	6.06	2.23	0.28157	Cadherin (5);Cadherin-like (1);	0.500574	0.18653	N	0.134952	T	0.60971	0.2310	M	0.72576	2.205	0.22171	N	0.999313	D	0.89917	1.0	D	0.72075	0.976	T	0.50608	-0.8808	10	0.29301	T	0.29	-0.5384	8.2307	0.31597	0.1342:0.2419:0.6239:0.0	.	323	Q12864	CAD17_HUMAN	S	323	ENSP00000027335:P323S;ENSP00000401468:P323S	ENSP00000027335:P323S	P	-	1	0	CDH17	95251900	1.000000	0.71417	0.001000	0.08648	0.008000	0.06430	3.908000	0.56355	0.134000	0.18681	-0.182000	0.12963	CCG		0.418	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		4	302	0	0	0	1	0	4	302				
GPRIN3	285513	broad.mit.edu	37	4	90170079	90170079	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:90170079G>A	ENST00000609438.1	-	2	1701	c.1183C>T	c.(1183-1185)Cag>Tag	p.Q395*	GPRIN3_ENST00000333209.4_Nonsense_Mutation_p.Q395*	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	395										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GCAGCTGCCTGAATGTGCACC	0.557																																						ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(1183-1185)Cag>Tag		GPRIN family member 3							79.0	81.0	80.0					4																	90170079		2203	4300	6503	SO:0001587	stop_gained	285513							g.chr4:90170079G>A	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1183C>T	4.37:g.90170079G>A	ENSP00000476603:p.Gln395*		Somatic					p.Q395*	NM_198281.2	NP_938022.2	WXS	Illumina GAIIx	Phase_I	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1701	-		Hepatocellular(203;0.114)	395					Q8IVE4	Nonsense_Mutation	SNP	ENST00000609438.1	37	c.1183C>T	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	39	7.576955	0.98368	.	.	ENSG00000185477	ENST00000333209	.	.	.	5.1	5.1	0.69264	.	0.568407	0.13333	N	0.395780	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-1.4271	13.7216	0.62730	0.0:0.1662:0.8338:0.0	.	.	.	.	X	395	.	ENSP00000328672:Q395X	Q	-	1	0	GPRIN3	90389102	0.971000	0.33674	0.387000	0.26183	0.367000	0.29736	4.946000	0.63576	2.652000	0.90054	0.655000	0.94253	CAG		0.557	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		9	121	0	0	0	1	0	9	121				
SEC24D	9871	broad.mit.edu	37	4	119686074	119686074	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:119686074T>A	ENST00000280551.6	-	10	1419		c.e10-2		SEC24D_ENST00000379735.5_Splice_Site|SEC24D_ENST00000505134.1_Splice_Site|SEC24D_ENST00000419654.2_Splice_Site|SEC24D_ENST00000511481.1_Splice_Site			O94855	SC24D_HUMAN	SEC24 family member D						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATGGTGGAACTAATAAAAACA	0.323																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.e10-2		SEC24 family member D							78.0	80.0	79.0					4																	119686074		2203	4300	6503	SO:0001630	splice_region_variant	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119686074T>A	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.1181-2A>T	4.37:g.119686074T>A			Somatic				SEC24D_ENST00000419654.2_Splice_Site|SEC24D_ENST00000280551.6_Splice_Site|SEC24D_ENST00000511481.1_Splice_Site|SEC24D_ENST00000505134.1_Splice_Site		NM_014822.2	NP_055637.2	WXS	Illumina GAIIx	Phase_I	O94855	SC24D_HUMAN			10	1455	-								Q8IYI7	Splice_Site	SNP	ENST00000280551.6	37		CCDS3710.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274498	0.80580	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000511481	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0154	0.80434	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEC24D	119905522	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.941000	0.87700	2.244000	0.73946	0.477000	0.44152	.		0.323	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4		Intron	5	98	0	0	0	1	0	5	98				
SMYD3	64754	broad.mit.edu	37	1	246498749	246498749	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:246498749C>T	ENST00000388985.4	-	3	255	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	SMYD3_ENST00000541742.1_Missense_Mutation_p.E27K|SMYD3_ENST00000490107.1_Missense_Mutation_p.E27K|SMYD3_ENST00000403792.3_Missense_Mutation_p.E86K			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	86	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		CATTTGCATTCCCGCTTGTGG	0.393																																						ENST00000490107.1																			0				breast(3)|large_intestine(5)|lung(8)|skin(1)	17						c.(79-81)Gaa>Aaa		SET and MYND domain containing 3							152.0	153.0	153.0					1																	246498749		2203	4300	6503	SO:0001583	missense	64754					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:246498749C>T	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.256G>A	1.37:g.246498749C>T	ENSP00000373637:p.Glu86Lys		Somatic				SMYD3_ENST00000541742.1_Missense_Mutation_p.E27K|SMYD3_ENST00000388985.4_Missense_Mutation_p.E86K|SMYD3_ENST00000403792.3_Missense_Mutation_p.E86K	p.E27K	NM_001167740.1	NP_001161212.1	WXS	Illumina GAIIx	Phase_I	Q9H7B4	SMYD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)	3	295	-	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	86					A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Missense_Mutation	SNP	ENST00000388985.4	37	c.79G>A	CCDS53486.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274876	0.80580	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000388985;ENST00000453676;ENST00000403792;ENST00000455277	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	5.41	5.41	0.78517	SET domain (2);Zinc finger, MYND-type (3);	0.134859	0.47852	D	0.000218	T	0.41650	0.1168	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.28713	-1.0035	10	0.87932	D	0	-26.8226	18.557	0.91089	0.0:1.0:0.0:0.0	.	86	Q9H7B4	SMYD3_HUMAN	K	27;27;86;27;86;27	ENSP00000444184:E27K;ENSP00000419184:E27K;ENSP00000373637:E86K;ENSP00000408122:E27K;ENSP00000385380:E86K	ENSP00000373637:E86K	E	-	1	0	SMYD3	244565372	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	5.566000	0.67372	2.704000	0.92352	0.655000	0.94253	GAA		0.393	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743		16	155	0	0	0	1	0	16	155				
PKD1L1	168507	broad.mit.edu	37	7	47884655	47884655	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:47884655G>A	ENST00000289672.2	-	33	5225	c.5175C>T	c.(5173-5175)ttC>ttT	p.F1725F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1725	GPS.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTAGGAGAGCGAATGCCGCGA	0.458																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(5173-5175)ttC>ttT		polycystic kidney disease 1 like 1							93.0	84.0	87.0					7																	47884655		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47884655G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5175C>T	7.37:g.47884655G>A			Somatic					p.F1725F	NM_138295.3	NP_612152.1	WXS	Illumina GAIIx	Phase_I	Q8TDX9	PK1L1_HUMAN			33	5225	-			1725			GPS.		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.5175C>T	CCDS34633.1																																																																																				0.458	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		4	89	0	0	0	1	0	4	89				
SLC15A2	6565	broad.mit.edu	37	3	121659283	121659283	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:121659283C>A	ENST00000489711.1	+	21	2349	c.1961C>A	c.(1960-1962)gCa>gAa	p.A654E	SLC15A2_ENST00000295605.2_Missense_Mutation_p.A623E	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	654					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TTGACAATTGCAGTTGGGAAT	0.478																																						ENST00000489711.1																			0				NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36						c.(1960-1962)gCa>gAa		solute carrier family 15 (oligopeptide transporter), member 2	Cefadroxil(DB01140)						167.0	145.0	152.0					3																	121659283		2203	4300	6503	SO:0001583	missense	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121659283C>A	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1961C>A	3.37:g.121659283C>A	ENSP00000417085:p.Ala654Glu		Somatic				SLC15A2_ENST00000295605.2_Missense_Mutation_p.A623E	p.A654E	NM_021082.3	NP_066568.3	WXS	Illumina GAIIx	Phase_I	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	21	2349	+			654					A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	c.1961C>A	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394862	0.83011	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.39997	1.05;1.05	5.19	4.31	0.51392	.	0.106321	0.64402	N	0.000005	T	0.73567	0.3603	H	0.96777	3.88	0.80722	D	1	D;D	0.69078	0.997;0.994	D;D	0.65684	0.937;0.937	T	0.82979	-0.0188	10	0.87932	D	0	-5.6456	13.3201	0.60428	0.0:0.8208:0.1792:0.0	.	623;654	B4E2A7;Q16348	.;S15A2_HUMAN	E	654;616;623	ENSP00000417085:A654E;ENSP00000295605:A623E	ENSP00000295605:A623E	A	+	2	0	SLC15A2	123141973	1.000000	0.71417	0.974000	0.42286	0.701000	0.40568	5.603000	0.67619	1.373000	0.46208	0.563000	0.77884	GCA		0.478	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		19	371	1	0	1.55795e-14	1	1.63232e-14	19	371				
DAP3	7818	broad.mit.edu	37	1	155695235	155695235	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:155695235C>T	ENST00000368336.5	+	5	457	c.333C>T	c.(331-333)taC>taT	p.Y111Y	DAP3_ENST00000496863.1_3'UTR|DAP3_ENST00000535183.1_Silent_p.Y70Y|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000471642.2_Silent_p.Y70Y|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Silent_p.Y111Y|DAP3_ENST00000421487.2_Silent_p.Y77Y	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	111					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTCTGCATTACCTGAAAAACA	0.453																																						ENST00000368336.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(331-333)taC>taT		death associated protein 3							222.0	206.0	211.0					1																	155695235		2203	4300	6503	SO:0001819	synonymous_variant	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155695235C>T	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.333C>T	1.37:g.155695235C>T			Somatic				DAP3_ENST00000421487.2_Silent_p.Y77Y|DAP3_ENST00000471214.1_3'UTR|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000343043.3_Silent_p.Y111Y|DAP3_ENST00000535183.1_Silent_p.Y70Y|MSTO1_ENST00000452804.2_Intron	p.Y111Y	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	WXS	Illumina GAIIx	Phase_I	P51398	RT29_HUMAN			5	457	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		111					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Silent	SNP	ENST00000368336.5	37	c.333C>T	CCDS1120.1																																																																																				0.453	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		76	366	0	0	0	1	0	76	366				
RYR3	6263	broad.mit.edu	37	15	34130561	34130561	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:34130561C>T	ENST00000389232.4	+	89	12450	c.12380C>T	c.(12379-12381)gCg>gTg	p.A4127V	RYR3_ENST00000415757.3_Missense_Mutation_p.A4122V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4127					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTAGAAATTGCGGGTGAAGAG	0.483																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(12379-12381)gCg>gTg		ryanodine receptor 3							144.0	143.0	143.0					15																	34130561		1889	4100	5989	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130561C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12380C>T	15.37:g.34130561C>T	ENSP00000373884:p.Ala4127Val		Somatic				RYR3_ENST00000415757.3_Missense_Mutation_p.A4122V	p.A4127V	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	12450	+		all_lung(180;7.18e-09)	4127					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.12380C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	0.146	-1.097237	0.01843	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.96619	-4.07	5.8	2.07	0.26955	.	0.644280	0.15045	N	0.283606	D	0.91526	0.7324	L	0.41492	1.28	0.09310	N	1	B;B	0.15141	0.001;0.012	B;B	0.10450	0.002;0.005	T	0.83074	-0.0141	10	0.45353	T	0.12	.	3.025	0.06087	0.3072:0.4573:0.0931:0.1424	.	4122;4127	Q15413-2;Q15413	.;RYR3_HUMAN	V	4127;4123	ENSP00000373884:A4127V	ENSP00000354735:A4123V	A	+	2	0	RYR3	31917853	1.000000	0.71417	0.071000	0.20095	0.022000	0.10575	1.429000	0.34903	0.470000	0.27294	-1.461000	0.01025	GCG		0.483	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	262	0	0	0	1	0	4	262				
KLHL7	55975	broad.mit.edu	37	7	23180386	23180386	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:23180386A>T	ENST00000339077.5	+	5	685		c.e5-1		KLHL7_ENST00000322231.7_Splice_Site|KLHL7_ENST00000479288.1_Splice_Site|KLHL7_ENST00000539124.1_Splice_Site|KLHL7_ENST00000409689.1_Splice_Site|KLHL7_ENST00000545443.1_Splice_Site|KLHL7_ENST00000542558.1_Splice_Site	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7						protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTGTGTTTAGGTATAAGTG	0.318																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e6-1		kelch-like family member 7							59.0	59.0	59.0					7																	23180386		2203	4300	6503	SO:0001630	splice_region_variant	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23180386A>T		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.443-1A>T	7.37:g.23180386A>T			Somatic				KLHL7_ENST00000339077.4_Splice_Site|KLHL7_ENST00000542558.1_Splice_Site|KLHL7_ENST00000539124.1_Splice_Site|KLHL7_ENST00000409689.1_Splice_Site|KLHL7_ENST00000479288.1_Splice_Site|KLHL7_ENST00000545443.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8IXQ5	KLHL7_HUMAN			6	866	+								A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Splice_Site	SNP	ENST00000339077.5	37		CCDS34609.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.334168	0.41297	.	.	ENSG00000122550	ENST00000322231;ENST00000339077;ENST00000539124;ENST00000409689;ENST00000545443	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1304	0.72517	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHL7	23146911	1.000000	0.71417	0.978000	0.43139	0.327000	0.28475	8.606000	0.90888	2.032000	0.59987	0.379000	0.24179	.		0.318	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846	Intron	5	81	0	0	0	1	0	5	81				
FILIP1	27145	broad.mit.edu	37	6	76023145	76023145	+	Silent	SNP	C	C	T	rs148968530		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:76023145C>T	ENST00000237172.7	-	5	2733	c.2403G>A	c.(2401-2403)acG>acA	p.T801T	FILIP1_ENST00000370020.1_Silent_p.T702T|FILIP1_ENST00000393004.2_Silent_p.T801T|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	801										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCCAGTTGACGTCACAGGAA	0.473																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2401-2403)acG>acA		filamin A interacting protein 1		C		1,4405	2.1+/-5.4	0,1,2202	132.0	137.0	135.0		2403	-10.6	0.0	6	dbSNP_134	135	0,8600		0,0,4300	no	coding-synonymous	FILIP1	NM_015687.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		801/1214	76023145	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27145							g.chr6:76023145C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2403G>A	6.37:g.76023145C>T			Somatic				FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.T801T|FILIP1_ENST00000370020.1_Silent_p.T702T	p.T801T			WXS	Illumina GAIIx	Phase_I	Q7Z7B0	FLIP1_HUMAN			5	2624	-			801					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	ENST00000237172.7	37	c.2403G>A	CCDS4984.1																																																																																				0.473	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		5	302	0	0	0	1	0	5	302				
FLG2	388698	broad.mit.edu	37	1	152323977	152323977	+	Silent	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152323977T>G	ENST00000388718.5	-	3	6357	c.6285A>C	c.(6283-6285)tcA>tcC	p.S2095S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2095					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTGTCCTTGACCCTCTCT	0.522																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6283-6285)tcA>tcC		filaggrin family member 2							489.0	446.0	460.0					1																	152323977		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152323977T>G	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6285A>C	1.37:g.152323977T>G			Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S2095S	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6357	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2095					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.6285A>C	CCDS30861.1																																																																																				0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		23	1907	0	0	0	1	0	23	1907				
ZNF124	7678	broad.mit.edu	37	1	247319939	247319939	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:247319939G>A	ENST00000543802.2	-	4	1074	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000340684.6_Missense_Mutation_p.R267C|ZNF124_ENST00000491848.1_5'Flank			Q15973	ZN124_HUMAN	zinc finger protein 124	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GTACTAGCACGACTAAAGGCT	0.383																																						ENST00000340684.6																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14						c.(799-801)Cgt>Tgt		zinc finger protein 124							90.0	92.0	92.0					1																	247319939		2203	4300	6503	SO:0001583	missense	7678				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247319939G>A	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.985C>T	1.37:g.247319939G>A	ENSP00000440365:p.Arg329Cys		Somatic				ZNF124_ENST00000543802.2_Missense_Mutation_p.R329C|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron	p.R267C	NM_003431.2	NP_003422.2	WXS	Illumina GAIIx	Phase_I	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		4	937	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		329					B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Missense_Mutation	SNP	ENST00000543802.2	37	c.799C>T		.	.	.	.	.	.	.	.	.	.	G	12.62	1.993788	0.35131	.	.	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802;ENST00000540601	T	0.19532	2.14	0.689	-0.976	0.10286	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12902	0.0313	L	0.39898	1.24	0.09310	N	1	B;B	0.22414	0.069;0.01	B;B	0.14578	0.011;0.001	T	0.30268	-0.9984	9	0.32370	T	0.25	.	2.248	0.04036	0.3889:0.3112:0.3:0.0	.	329;267	Q15973;Q15973-4	ZN124_HUMAN;.	C	290;267;273;133	ENSP00000340749:R267C	ENSP00000340749:R267C	R	-	1	0	ZNF124	245386562	0.000000	0.05858	0.001000	0.08648	0.821000	0.46438	-0.054000	0.11826	-0.378000	0.07918	0.306000	0.20318	CGT		0.383	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431		4	104	0	0	0	1	0	4	104				
PNMA2	10687	broad.mit.edu	37	8	26366047	26366047	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:26366047G>A	ENST00000522362.2	-	3	1119	c.225C>T	c.(223-225)gtC>gtT	p.V75V	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	75					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gaatggccgagacatcagtat	0.478																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(223-225)gtC>gtT		paraneoplastic Ma antigen 2							74.0	74.0	74.0					8																	26366047		2203	4300	6503	SO:0001819	synonymous_variant	10687				apoptosis	nucleolus	protein binding	g.chr8:26366047G>A		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.225C>T	8.37:g.26366047G>A			Somatic					p.V75V	NM_007257.5	NP_009188.1	WXS	Illumina GAIIx	Phase_I	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1119	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	75					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Silent	SNP	ENST00000522362.2	37	c.225C>T	CCDS34868.1																																																																																				0.478	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		8	134	0	0	0	1	0	8	134				
PPWD1	23398	broad.mit.edu	37	5	64859225	64859225	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:64859225A>T	ENST00000261308.5	+	1	160	c.88A>T	c.(88-90)Aga>Tga	p.R30*	PPWD1_ENST00000535264.1_5'UTR|CENPK_ENST00000396679.1_5'Flank|CENPK_ENST00000510693.1_5'Flank|PPWD1_ENST00000538977.1_5'UTR|CENPK_ENST00000514814.1_5'Flank|CENPK_ENST00000508421.1_5'Flank|CENPK_ENST00000506282.2_5'Flank|CENPK_ENST00000510354.1_5'Flank	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	30					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R30*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		ACTCAGCGAAAGAGAGCTGGC	0.567																																						ENST00000261308.5																			1	Substitution - Nonsense(1)	p.R30*(1)	kidney(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19						c.(88-90)Aga>Tga		peptidylprolyl isomerase domain and WD repeat containing 1							73.0	73.0	73.0					5																	64859225		2203	4300	6503	SO:0001587	stop_gained	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64859225A>T	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.88A>T	5.37:g.64859225A>T	ENSP00000261308:p.Arg30*		Somatic				PPWD1_ENST00000538977.1_5'UTR|PPWD1_ENST00000535264.1_5'UTR	p.R30*	NM_015342.3	NP_056157.1	WXS	Illumina GAIIx	Phase_I	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	1	160	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	30					B4DWR9|Q15002|Q7KZ89	Nonsense_Mutation	SNP	ENST00000261308.5	37	c.88A>T	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.517835	0.64634	.	.	ENSG00000113593	ENST00000261308	.	.	.	4.85	-0.279	0.12890	.	0.290387	0.31821	N	0.007018	.	.	.	.	.	.	0.20489	N	0.999894	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	1.2934	0.02065	0.3925:0.2692:0.2143:0.1241	.	.	.	.	X	30	.	ENSP00000261308:R30X	R	+	1	2	PPWD1	64894981	0.000000	0.05858	0.004000	0.12327	0.106000	0.19336	-0.144000	0.10280	0.074000	0.16767	0.482000	0.46254	AGA		0.567	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		70	98	0	0	0	1	0	70	98				
TACC2	10579	broad.mit.edu	37	10	123842630	123842630	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:123842630C>T	ENST00000369005.1	+	4	955	c.615C>T	c.(613-615)ctC>ctT	p.L205L	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.L205L|TACC2_ENST00000334433.3_Silent_p.L205L|TACC2_ENST00000453444.2_Silent_p.L205L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.L205L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	205					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGTACCCCTCAGAGAGCCAA	0.577																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(613-615)ctC>ctT		transforming, acidic coiled-coil containing protein 2							32.0	31.0	32.0					10																	123842630		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123842630C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.615C>T	10.37:g.123842630C>T			Somatic				TACC2_ENST00000453444.2_Silent_p.L205L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.L205L|TACC2_ENST00000515603.1_Silent_p.L205L|TACC2_ENST00000515273.1_Silent_p.L205L|TACC2_ENST00000358010.1_Intron	p.L205L	NM_206862.2	NP_996744.2	WXS	Illumina GAIIx	Phase_I	O95359	TACC2_HUMAN			4	955	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	205					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.615C>T	CCDS7626.1																																																																																				0.577	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			5	33	0	0	0	1	0	5	33				
THRAP3	9967	broad.mit.edu	37	1	36754845	36754845	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:36754845C>T	ENST00000354618.5	+	5	1449	c.1225C>T	c.(1225-1227)Ccc>Tcc	p.P409S	THRAP3_ENST00000469141.2_Missense_Mutation_p.P409S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	409	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGTCAGTCTCCCAAAAGGTA	0.448			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(1225-1227)Ccc>Tcc		thyroid hormone receptor associated protein 3							71.0	73.0	72.0					1																	36754845		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36754845C>T	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1225C>T	1.37:g.36754845C>T	ENSP00000346634:p.Pro409Ser		Somatic				THRAP3_ENST00000469141.2_Missense_Mutation_p.P409S	p.P409S	NM_005119.3	NP_005110.2	WXS	Illumina GAIIx	Phase_I	Q9Y2W1	TR150_HUMAN			5	1449	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	409					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.1225C>T	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413037	0.62511	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.13307	2.6;2.6	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	L	0.59436	1.845	0.51233	D	0.999913	D	0.60575	0.988	P	0.56216	0.794	T	0.00795	-1.1563	10	0.16896	T	0.51	-5.6789	19.3813	0.94536	0.0:1.0:0.0:0.0	.	409	Q9Y2W1	TR150_HUMAN	S	409	ENSP00000346634:P409S;ENSP00000433825:P409S	ENSP00000346634:P409S	P	+	1	0	THRAP3	36527432	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.530000	0.60595	2.824000	0.97209	0.655000	0.94253	CCC		0.448	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		6	221	0	0	0	1	0	6	221				
TICRR	90381	broad.mit.edu	37	15	90125915	90125915	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:90125915A>T	ENST00000268138.7	+	2	759		c.e2-1		RP11-429B14.3_ENST00000560477.1_RNA|RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Splice_Site			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator						cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GTTTTATTTTAGTTGTGGGAA	0.398																																						ENST00000268138.7																			0											c.e2-1		TOPBP1-interacting checkpoint and replication regulator							97.0	93.0	94.0					15																	90125915		1851	4109	5960	SO:0001630	splice_region_variant	90381							g.chr15:90125915A>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.655-1A>T	15.37:g.90125915A>T			Somatic				TICRR_ENST00000560985.1_Splice_Site|RP11-429B14.1_ENST00000559041.1_RNA				WXS	Illumina GAIIx	Phase_I					2	759	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Splice_Site	SNP	ENST00000268138.7	37		CCDS10352.2	.	.	.	.	.	.	.	.	.	.	A	15.14	2.743958	0.49151	.	.	ENSG00000140534	ENST00000268138	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7855	0.78300	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C15orf42	87926919	1.000000	0.71417	0.813000	0.32504	0.536000	0.34869	6.113000	0.71553	2.193000	0.70182	0.402000	0.26972	.		0.398	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	Intron	5	115	0	0	0	1	0	5	115				
RCAN1	1827	broad.mit.edu	37	21	35893901	35893901	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr21:35893901A>T	ENST00000313806.4	-	3	612	c.482T>A	c.(481-483)cTg>cAg	p.L161Q	RCAN1_ENST00000487990.1_Missense_Mutation_p.L26Q|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000399272.1_Missense_Mutation_p.L80Q|RCAN1_ENST00000481448.1_Missense_Mutation_p.L151Q|RCAN1_ENST00000443408.2_Missense_Mutation_p.L26Q|RCAN1_ENST00000381135.3_Missense_Mutation_p.L151Q|RCAN1_ENST00000492600.1_Missense_Mutation_p.L106Q|RCAN1_ENST00000482533.1_Missense_Mutation_p.L26Q|RCAN1_ENST00000381132.2_Missense_Mutation_p.L106Q	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	161					blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L106Q(1)|p.L161Q(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						AGGGGAGATCAGAAACTGCTT	0.512																																						ENST00000481448.1																			2	Substitution - Missense(2)	p.L106Q(1)|p.L161Q(1)	kidney(2)	breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(451-453)cTg>cAg		regulator of calcineurin 1							81.0	83.0	82.0					21																	35893901		2203	4300	6503	SO:0001583	missense	1827				blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:35893901A>T		CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"""Down syndrome critical region gene 1"""	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.482T>A	21.37:g.35893901A>T	ENSP00000320768:p.Leu161Gln		Somatic				RCAN1_ENST00000443408.2_Missense_Mutation_p.L26Q|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000399272.1_Missense_Mutation_p.L80Q|RCAN1_ENST00000313806.4_Missense_Mutation_p.L161Q|RCAN1_ENST00000487990.1_Missense_Mutation_p.L26Q|RCAN1_ENST00000381132.2_Missense_Mutation_p.L106Q|RCAN1_ENST00000482533.1_Missense_Mutation_p.L26Q|RCAN1_ENST00000381135.3_Missense_Mutation_p.L151Q	p.L151Q			WXS	Illumina GAIIx	Phase_I	P53805	RCAN1_HUMAN			4	938	-			161					D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Missense_Mutation	SNP	ENST00000313806.4	37	c.452T>A	CCDS13637.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.720107	0.89205	.	.	ENSG00000159200	ENST00000487990;ENST00000313806;ENST00000381132;ENST00000399272;ENST00000481448;ENST00000482533;ENST00000381135;ENST00000443408	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.84000	0.5376	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.97110	1.0;0.997;0.997;0.998	D	0.87042	0.2141	9	0.87932	D	0	-26.6531	15.4681	0.75419	1.0:0.0:0.0:0.0	.	106;161;80;106	B7Z1F0;P53805;P53805-3;Q6FGP2	.;RCAN1_HUMAN;.;.	Q	26;161;106;80;151;26;151;26	.	ENSP00000320768:L161Q	L	-	2	0	RCAN1	34815771	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.924000	0.92827	2.131000	0.65755	0.533000	0.62120	CTG		0.512	RCAN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194142.1			6	23	0	0	0	1	0	6	23				
ABCC6	368	broad.mit.edu	37	16	16284071	16284071	+	Missense_Mutation	SNP	C	C	T	rs140045277		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:16284071C>T	ENST00000205557.7	-	12	1614	c.1585G>A	c.(1585-1587)Ggc>Agc	p.G529S	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	529	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.G529S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	AAGAGGAGGCCGGAGGTCCGC	0.592																																						ENST00000205557.7																			1	Substitution - Missense(1)	p.G529S(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43						c.(1585-1587)Ggc>Agc		ATP-binding cassette, sub-family C (CFTR/MRP), member 6		C	SER/GLY	0,4394		0,0,2197	79.0	81.0	81.0		1585	-1.0	0.9	16	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCC6	NM_001171.5	56	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	529/1504	16284071	1,12993	2197	4300	6497	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16284071C>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1585G>A	16.37:g.16284071C>T	ENSP00000205557:p.Gly529Ser		Somatic				ABCC6_ENST00000574094.1_5'UTR	p.G529S	NM_001171.5	NP_001162.4	WXS	Illumina GAIIx	Phase_I	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	12	1614	-			529			ABC transmembrane type-1 1.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.1585G>A	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025804	0.35701	0.0	1.16E-4	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.89415	-2.51;-2.51	5.07	-0.967	0.10316	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.902840	0.09184	N	0.836987	T	0.79947	0.4534	L	0.28694	0.88	0.09310	N	1	B;B	0.26258	0.145;0.046	B;B	0.20184	0.016;0.028	T	0.63328	-0.6662	10	0.38643	T	0.18	.	7.0971	0.25315	0.0:0.5452:0.1167:0.3381	.	541;529	F5GWQ0;O95255	.;MRP6_HUMAN	S	529;529;541	ENSP00000205557:G529S;ENSP00000405002:G529S	ENSP00000205557:G529S	G	-	1	0	ABCC6	16191572	0.846000	0.29590	0.889000	0.34880	0.687000	0.40016	0.799000	0.27028	-0.492000	0.06687	0.561000	0.74099	GGC		0.592	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			43	45	0	0	0	1	0	43	45				
PREP	5550	broad.mit.edu	37	6	105800954	105800954	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:105800954T>A	ENST00000369110.3	-	7	910		c.e7-2			NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ATCAGATAACTAAAAAAGAAA	0.343																																						ENST00000369110.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.e7-2		prolyl endopeptidase	Oxytocin(DB00107)						79.0	86.0	84.0					6																	105800954		2203	4300	6503	SO:0001630	splice_region_variant	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105800954T>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.718-2A>T	6.37:g.105800954T>A			Somatic						NM_002726.4	NP_002717.3	WXS	Illumina GAIIx	Phase_I	P48147	PPCE_HUMAN			7	910	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)						Q8N6D4	Splice_Site	SNP	ENST00000369110.3	37		CCDS5053.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404919	0.62288	.	.	ENSG00000085377	ENST00000369110	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9901	0.71381	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PREP	105907647	1.000000	0.71417	0.960000	0.40013	0.657000	0.38888	4.794000	0.62482	2.240000	0.73641	0.533000	0.62120	.		0.343	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1		Intron	7	79	0	0	0	1	0	7	79				
DNAJC1	64215	broad.mit.edu	37	10	22048498	22048498	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:22048498G>A	ENST00000376980.3	-	11	1487	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	399					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CCGTTTTGATGGGCCTGGAAT	0.567																																						ENST00000376980.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21						c.(1195-1197)ccC>ccT		DnaJ (Hsp40) homolog, subfamily C, member 1							56.0	50.0	52.0					10																	22048498		2203	4300	6503	SO:0001819	synonymous_variant	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22048498G>A	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1197C>T	10.37:g.22048498G>A			Somatic				DNAJC1_ENST00000483085.1_5'UTR	p.P399P	NM_022365.3	NP_071760.2	WXS	Illumina GAIIx	Phase_I	Q96KC8	DNJC1_HUMAN			11	1487	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	399					B0YIZ8|Q5VX89|Q9H6B8	Silent	SNP	ENST00000376980.3	37	c.1197C>T	CCDS7136.1																																																																																				0.567	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		7	123	0	0	0	1	0	7	123				
RASSF6	166824	broad.mit.edu	37	4	74442420	74442420	+	Silent	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:74442420A>T	ENST00000342081.3	-	9	976	c.846T>A	c.(844-846)atT>atA	p.I282I	RASSF6_ENST00000395777.2_Silent_p.I216I|RASSF6_ENST00000335049.5_Silent_p.I238I|RASSF6_ENST00000307439.5_Silent_p.I250I	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	282	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)			p.I250I(1)|p.I282I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCAGTAGCGGAATGTCTGTCT	0.403																																						ENST00000307439.5																			2	Substitution - coding silent(2)	p.I250I(1)|p.I282I(1)	kidney(2)	breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17						c.(748-750)atT>atA		Ras association (RalGDS/AF-6) domain family member 6							216.0	225.0	222.0					4																	74442420		2203	4300	6503	SO:0001819	synonymous_variant	166824				apoptosis|signal transduction		protein binding	g.chr4:74442420A>T	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.846T>A	4.37:g.74442420A>T			Somatic				RASSF6_ENST00000395777.2_Silent_p.I216I|RASSF6_ENST00000335049.5_Silent_p.I238I|RASSF6_ENST00000342081.3_Silent_p.I282I	p.I250I	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	WXS	Illumina GAIIx	Phase_I	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		9	1044	-	Breast(15;0.00102)		282			Ras-associating.		Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Silent	SNP	ENST00000342081.3	37	c.750T>A	CCDS3558.1																																																																																				0.403	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532		201	260	0	0	0	1	0	201	260				
RAPGEF6	51735	broad.mit.edu	37	5	130897742	130897742	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:130897742T>A	ENST00000509018.1	-	5	487		c.e5-2		CTC-432M15.3_ENST00000514667.1_Splice_Site|RAPGEF6_ENST00000308008.6_Splice_Site|RAPGEF6_ENST00000510071.1_Splice_Site|RAPGEF6_ENST00000307984.5_Splice_Site|RAPGEF6_ENST00000503398.2_Intron|RAPGEF6_ENST00000296859.6_Splice_Site|RAPGEF6_ENST00000507093.1_Splice_Site	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6						positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTACCAAAACTATAAAAACAG	0.284																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.e5-2		Rap guanine nucleotide exchange factor (GEF) 6							97.0	100.0	99.0					5																	130897742		2203	4295	6498	SO:0001630	splice_region_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130897742T>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.282-2A>T	5.37:g.130897742T>A			Somatic				RAPGEF6_ENST00000308008.6_Splice_Site|FNIP1_ENST00000514667.1_Splice_Site|RAPGEF6_ENST00000296859.6_Splice_Site|RAPGEF6_ENST00000307984.5_Splice_Site|RAPGEF6_ENST00000507093.1_Splice_Site|RAPGEF6_ENST00000510071.1_Splice_Site|RAPGEF6_ENST00000503398.2_Intron		NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	WXS	Illumina GAIIx	Phase_I	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	5	487	-								A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Splice_Site	SNP	ENST00000509018.1	37		CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425029	0.83667	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000514667	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9416	0.64059	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAPGEF6;FNIP1	130925641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.925000	0.70062	2.278000	0.76064	0.533000	0.62120	.		0.284	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340	Intron	4	62	0	0	0	1	0	4	62				
DIP2B	57609	broad.mit.edu	37	12	51084867	51084867	+	Silent	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:51084867T>C	ENST00000301180.5	+	13	1621	c.1587T>C	c.(1585-1587)gtT>gtC	p.V529V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	529						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.V529V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TAATGGGAGTTACAGTATCCC	0.408																																						ENST00000301180.5																			1	Substitution - coding silent(1)	p.V529V(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(1585-1587)gtT>gtC		DIP2 disco-interacting protein 2 homolog B (Drosophila)							127.0	110.0	116.0					12																	51084867		2203	4300	6503	SO:0001819	synonymous_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51084867T>C	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1587T>C	12.37:g.51084867T>C			Somatic					p.V529V	NM_173602.2	NP_775873.2	WXS	Illumina GAIIx	Phase_I	Q9P265	DIP2B_HUMAN			13	1621	+			529					Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	c.1587T>C	CCDS31799.1																																																																																				0.408	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		127	133	0	0	0	1	0	127	133				
UBE3B	89910	broad.mit.edu	37	12	109928871	109928871	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:109928871G>A	ENST00000342494.3	+	9	1247	c.652G>A	c.(652-654)Gca>Aca	p.A218T	UBE3B_ENST00000540230.1_3'UTR|UBE3B_ENST00000537063.1_3'UTR|UBE3B_ENST00000434735.2_Missense_Mutation_p.A218T|UBE3B_ENST00000280774.5_Missense_Mutation_p.A218T	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	218					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CCGTGGCCTGGCAAGACCCCG	0.388																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(652-654)Gca>Aca		ubiquitin protein ligase E3B							115.0	106.0	109.0					12																	109928871		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109928871G>A	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.652G>A	12.37:g.109928871G>A	ENSP00000340596:p.Ala218Thr		Somatic				UBE3B_ENST00000540230.1_3'UTR|UBE3B_ENST00000537063.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.A218T|UBE3B_ENST00000434735.2_Missense_Mutation_p.A218T	p.A218T	NM_130466.3	NP_569733.2	WXS	Illumina GAIIx	Phase_I	Q7Z3V4	UBE3B_HUMAN			9	1247	+			218					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.652G>A	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	34	5.394938	0.96009	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.44881	1.23;0.91;1.49;1.23	5.84	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	M	0.68952	2.095	0.80722	D	1	B	0.33883	0.43	B	0.27076	0.076	T	0.47686	-0.9098	10	0.66056	D	0.02	-2.1005	15.4867	0.75573	0.0:0.0:0.8614:0.1386	.	218	Q7Z3V4	UBE3B_HUMAN	T	218	ENSP00000391529:A218T;ENSP00000280774:A218T;ENSP00000443131:A218T;ENSP00000340596:A218T	ENSP00000280774:A218T	A	+	1	0	UBE3B	108413254	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.017000	0.70805	2.775000	0.95449	0.655000	0.94253	GCA		0.388	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		4	126	0	0	0	1	0	4	126				
ZMYND8	23613	broad.mit.edu	37	20	45905190	45905190	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:45905190G>A	ENST00000311275.7	-	11	1541	c.1288C>T	c.(1288-1290)Ccg>Tcg	p.P430S	ZMYND8_ENST00000352431.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P425S|ZMYND8_ENST00000458360.2_Missense_Mutation_p.P425S|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P457S|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P450S|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P367S	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	430					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGGGAGCGCGGCATATCCGAC	0.597																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(1288-1290)Ccg>Tcg		zinc finger, MYND-type containing 8							77.0	66.0	70.0					20																	45905190		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45905190G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1288C>T	20.37:g.45905190G>A	ENSP00000312237:p.Pro430Ser		Somatic				ZMYND8_ENST00000352431.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P367S|ZMYND8_ENST00000458360.2_Missense_Mutation_p.P425S|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P457S|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P450S|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P425S|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P430S	p.P430S			WXS	Illumina GAIIx	Phase_I	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		11	1541	-			430					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.1288C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.54|16.54	3.151142|3.151142	0.57151|0.57151	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.96459	.|-3.03;-2.85;-2.93;-2.97;-2.91;-2.94;-3.0;-2.91;-2.88;-4.02;-3.0;-3.04;-1.76	5.51|5.51	4.55|4.55	0.56014|0.56014	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97294|0.97294	0.9115|0.9115	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999995|0.999995	.|D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D	.|0.89917	.|0.998;0.909;1.0;1.0;1.0;1.0;0.997;1.0;0.997;0.995;1.0;1.0;1.0;1.0;1.0;0.767;0.998;0.998	.|D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;B;D;D	.|0.97110	.|0.984;0.863;1.0;1.0;1.0;1.0;0.98;0.999;0.973;0.98;0.999;1.0;1.0;1.0;1.0;0.359;0.984;0.994	D|D	0.96629|0.96629	0.9465|0.9465	5|10	.|0.33940	.|T	.|0.23	-16.235|-16.235	15.6606|15.6606	0.77186|0.77186	0.0:0.0:0.8617:0.1383|0.0:0.0:0.8617:0.1383	.|.	.|425;457;425;425;405;424;450;430;425;450;450;430;367;425;425;450;425;430	.|B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	V|S	356|425;430;425;430;450;450;430;457;430;367;450;425;425	.|ENSP00000354166:P425S;ENSP00000312237:P430S;ENSP00000392964:P425S;ENSP00000262975:P430S;ENSP00000420095:P450S;ENSP00000335537:P450S;ENSP00000379577:P430S;ENSP00000439800:P457S;ENSP00000348246:P430S;ENSP00000396725:P367S;ENSP00000418210:P450S;ENSP00000361093:P425S;ENSP00000443086:P425S	.|ENSP00000262975:P430S	A|P	-|-	2|1	0|0	ZMYND8|ZMYND8	45338597|45338597	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.328000|0.328000	0.28507|0.28507	9.338000|9.338000	0.96553|0.96553	1.305000|1.305000	0.44909|0.44909	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.597	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		4	282	0	0	0	1	0	4	282				
HIST1H2BD	3017	broad.mit.edu	37	6	26158562	26158562	+	Silent	SNP	C	C	T	rs141600148	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:26158562C>T	ENST00000289316.2	+	1	189	c.165C>T	c.(163-165)atC>atT	p.I55I	HIST1H2BD_ENST00000377777.4_Silent_p.I55I	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	55					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ACACCGGCATCTCTTCCAAGG	0.562																																						ENST00000289316.2																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						c.(163-165)atC>atT		histone cluster 1, H2bd		C	,	0,4406		0,0,2203	200.0	185.0	190.0		165,165	5.2	1.0	6	dbSNP_134	190	3,8597		0,3,4297	no	coding-synonymous,coding-synonymous	HIST1H2BD	NM_021063.3,NM_138720.2	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	55/127,55/127	26158562	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158562C>T	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.165C>T	6.37:g.26158562C>T			Somatic				HIST1H2BD_ENST00000377777.4_Silent_p.I55I	p.I55I	NM_138720.2	NP_619790.1	WXS	Illumina GAIIx	Phase_I	P58876	H2B1D_HUMAN			1	189	+			55						Silent	SNP	ENST00000289316.2	37	c.165C>T	CCDS4587.1																																																																																				0.562	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		36	675	0	0	0	1	0	36	675				
CXADR	1525	broad.mit.edu	37	21	18937925	18937925	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr21:18937925C>T	ENST00000284878.7	+	7	1761	c.1013C>T	c.(1012-1014)gCt>gTt	p.A338V	CXADR_ENST00000306618.10_Missense_Mutation_p.A297V|CXADR_ENST00000400166.1_Silent_p.L251L|CXADR_ENST00000400165.1_Silent_p.L199L|CXADR_ENST00000400169.1_Missense_Mutation_p.A338V	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	338					actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		CTCCCACCTGCTAAGGTAGCT	0.473																																						ENST00000284878.7																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11						c.(1012-1014)gCt>gTt		coxsackie virus and adenovirus receptor							61.0	58.0	59.0					21																	18937925		2203	4299	6502	SO:0001583	missense	1525				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity	g.chr21:18937925C>T	Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.1013C>T	21.37:g.18937925C>T	ENSP00000284878:p.Ala338Val		Somatic				CXADR_ENST00000400166.1_Silent_p.L251L|CXADR_ENST00000400169.1_Missense_Mutation_p.A338V|CXADR_ENST00000306618.10_Missense_Mutation_p.A297V|CXADR_ENST00000400165.1_Silent_p.L199L	p.A338V	NM_001338.4	NP_001329.1	WXS	Illumina GAIIx	Phase_I	P78310	CXAR_HUMAN		Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)	7	1761	+			338					B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Missense_Mutation	SNP	ENST00000284878.7	37	c.1013C>T	CCDS33519.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505878	0.44558	.	.	ENSG00000154639	ENST00000284878;ENST00000400169;ENST00000306618	T;T;D	0.86694	-0.99;-1.05;-2.16	5.3	4.35	0.52113	.	0.231983	0.45126	D	0.000389	T	0.78691	0.4323	.	.	.	0.09310	N	1	B;B	0.34181	0.265;0.44	B;B	0.30029	0.079;0.11	T	0.69339	-0.5171	9	0.30078	T	0.28	.	14.1654	0.65473	0.1501:0.8499:0.0:0.0	.	338;338	B7WPI3;P78310	.;CXAR_HUMAN	V	338;338;297	ENSP00000284878:A338V;ENSP00000383033:A338V;ENSP00000303395:A297V	ENSP00000284878:A338V	A	+	2	0	CXADR	17859796	0.598000	0.26882	0.072000	0.20136	0.960000	0.62799	5.032000	0.64140	2.644000	0.89710	0.561000	0.74099	GCT		0.473	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1			7	291	0	0	0	1	0	7	291				
KBTBD7	84078	broad.mit.edu	37	13	41767064	41767064	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr13:41767064C>T	ENST00000379483.3	-	1	1638	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	444										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GTAATAGGGTCTCGTCCCCCC	0.483																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1330-1332)Gac>Aac		kelch repeat and BTB (POZ) domain containing 7							124.0	113.0	117.0					13																	41767064		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41767064C>T	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1330G>A	13.37:g.41767064C>T	ENSP00000368797:p.Asp444Asn		Somatic					p.D444N	NM_032138.4	NP_115514.2	WXS	Illumina GAIIx	Phase_I	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1638	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	444					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.1330G>A	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	6.537	0.467408	0.12402	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.78364	-1.17	5.37	3.63	0.41609	Kelch-type beta propeller (1);	0.124247	0.52532	D	0.000062	T	0.65365	0.2684	L	0.28608	0.87	0.42774	D	0.993847	B	0.25048	0.117	B	0.25884	0.064	T	0.63976	-0.6515	10	0.52906	T	0.07	.	9.4005	0.38428	0.0:0.8258:0.0:0.1742	.	444	Q8WVZ9	KBTB7_HUMAN	N	444;346	ENSP00000368797:D444N	ENSP00000368797:D444N	D	-	1	0	KBTBD7	40665064	0.997000	0.39634	1.000000	0.80357	0.523000	0.34469	1.810000	0.38932	1.252000	0.44001	0.557000	0.71058	GAC		0.483	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		62	85	0	0	0	1	0	62	85				
SYNE1	23345	broad.mit.edu	37	6	152557951	152557951	+	Splice_Site	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:152557951C>T	ENST00000367255.5	-	109	20801		c.e109+1		SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTAACACCAACCTGGTAGAGT	0.438										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.e109+1		spectrin repeat containing, nuclear envelope 1							123.0	99.0	107.0					6																	152557951		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152557951C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20199+1G>A	6.37:g.152557951C>T		HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site		NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	109	20801	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37		CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983233	0.74474	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5579	0.95358	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYNE1	152599644	1.000000	0.71417	0.999000	0.59377	0.608000	0.37181	5.771000	0.68881	2.624000	0.88883	0.655000	0.94253	.		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	27	55	0	0	0	1	0	27	55				
SMAD9	4093	broad.mit.edu	37	13	37453538	37453538	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr13:37453538G>A	ENST00000399275.2	-	1	428	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	SMAD9_ENST00000350148.5_Missense_Mutation_p.R97C|SMAD9_ENST00000483941.1_5'Flank|SMAD9_ENST00000379826.4_Missense_Mutation_p.R97C			O15198	SMAD9_HUMAN	SMAD family member 9	97	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)	p.R97C(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TCCGGCCAGCGCCACACGCGA	0.612																																						ENST00000379826.4																			2	Substitution - Missense(2)	p.R97C(2)	kidney(2)	NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18						c.(289-291)Cgc>Tgc		SMAD family member 9							33.0	36.0	35.0					13																	37453538		2203	4300	6503	SO:0001583	missense	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37453538G>A		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.289C>T	13.37:g.37453538G>A	ENSP00000382216:p.Arg97Cys		Somatic				SMAD9_ENST00000399275.2_Missense_Mutation_p.R97C|SMAD9_ENST00000350148.5_Missense_Mutation_p.R97C	p.R97C	NM_001127217.2	NP_001120689.1	WXS	Illumina GAIIx	Phase_I	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	2	631	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	97			MH1.		A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	c.289C>T	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615679	0.66672	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	T;T;T	0.80738	-1.41;-1.41;-1.41	5.53	5.53	0.82687	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.91778	0.7399	H	0.95539	3.685	0.80722	D	1	D;D	0.71674	0.998;0.997	P;D	0.64877	0.801;0.93	D	0.93621	0.6948	10	0.87932	D	0	.	13.4247	0.61018	0.0:0.0:0.8432:0.1568	.	97;97	O15198-2;O15198	.;SMAD9_HUMAN	C	97	ENSP00000382216:R97C;ENSP00000239885:R97C;ENSP00000369154:R97C	ENSP00000239885:R97C	R	-	1	0	SMAD9	36351538	1.000000	0.71417	1.000000	0.80357	0.259000	0.26198	6.460000	0.73518	2.599000	0.87857	0.563000	0.77884	CGC		0.612	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		22	26	0	0	0	1	0	22	26				
SNHG14	104472715	broad.mit.edu	37	15	25453255	25453255	+	RNA	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:25453255T>G	ENST00000424208.1	+	0	2384				SNORD115-20_ENST00000365099.1_RNA|SNORD115-22_ENST00000364456.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-21_ENST00000362963.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACCTTATATTTTCTGAAGAGA	0.527																																						ENST00000424208.1																			0																				348.0	359.0	356.0					15																	25453255		876	1991	2867			104472715							g.chr15:25453255T>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25453255T>G			Somatic				SNHG14_ENST00000450809.1_RNA|SNORD115-21_ENST00000362963.1_RNA|SNHG14_ENST00000424333.1_RNA		NR_003305.1		WXS	Illumina GAIIx	Phase_I					0	2384	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.527	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			3	153	0	0	0	1	0	3	153				
S100A14	57402	broad.mit.edu	37	1	153587436	153587436	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:153587436C>A	ENST00000368702.1	-	5	512	c.240G>T	c.(238-240)gaG>gaT	p.E80D	S100A14_ENST00000368700.3_5'UTR|S100A16_ENST00000474991.1_5'Flank|S100A14_ENST00000476873.1_Missense_Mutation_p.E80D|S100A14_ENST00000368701.1_Missense_Mutation_p.E80D|S100A14_ENST00000344616.2_Missense_Mutation_p.E80D|S100A16_ENST00000368706.4_5'Flank			Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14	80					apoptotic process (GO:0006915)|calcium ion homeostasis (GO:0055074)|defense response to bacterium (GO:0042742)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)	extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|chemokine receptor binding (GO:0042379)	p.E80D(1)		kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACTCCTGAACTCCAGTTTAG	0.557																																						ENST00000368702.1																			1	Substitution - Missense(1)	p.E80D(1)	kidney(1)	kidney(2)|large_intestine(1)|lung(1)	4						c.(238-240)gaG>gaT		S100 calcium binding protein A14							76.0	76.0	76.0					1																	153587436		2203	4300	6503	SO:0001583	missense	57402				calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding	g.chr1:153587436C>A	AY007220	CCDS1046.1	1q21.1	2008-02-05			ENSG00000189334	ENSG00000189334		"""S100 calcium binding proteins"""	18901	protein-coding gene	gene with protein product		607986				11944983	Standard	NM_020672		Approved	S100A15, BCMP84	uc001fce.3	Q9HCY8	OTTHUMG00000035030	ENST00000368702.1:c.240G>T	1.37:g.153587436C>A	ENSP00000357691:p.Glu80Asp		Somatic				S100A14_ENST00000476873.1_Missense_Mutation_p.E80D|S100A14_ENST00000368701.1_Missense_Mutation_p.E80D|S100A14_ENST00000344616.2_Missense_Mutation_p.E80D|S100A14_ENST00000368700.3_5'UTR	p.E80D			WXS	Illumina GAIIx	Phase_I	Q9HCY8	S10AE_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	512	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		80					Q5RHT0	Missense_Mutation	SNP	ENST00000368702.1	37	c.240G>T	CCDS1046.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217975	0.58560	.	.	ENSG00000189334	ENST00000476873;ENST00000368701;ENST00000368702;ENST00000344616	T;T;T;T	0.04083	3.71;3.71;3.71;3.71	4.86	2.99	0.34606	EF-hand-like domain (1);	0.066166	0.64402	D	0.000004	T	0.02888	0.0086	L	0.44542	1.39	0.27397	N	0.954976	D	0.58970	0.984	D	0.65443	0.935	T	0.09862	-1.0655	10	0.02654	T	1	-29.9666	7.2222	0.25994	0.0:0.7978:0.0:0.2022	.	80	Q9HCY8	S10AE_HUMAN	D	80	ENSP00000420296:E80D;ENSP00000357690:E80D;ENSP00000357691:E80D;ENSP00000340463:E80D	ENSP00000340463:E80D	E	-	3	2	S100A14	151854060	1.000000	0.71417	0.995000	0.50966	0.510000	0.34073	0.386000	0.20702	0.640000	0.30582	-0.192000	0.12808	GAG		0.557	S100A14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084788.2	NM_020672		10	18	1	0	6.40141e-05	1	6.59108e-05	10	18				
TET2	54790	broad.mit.edu	37	4	106156759	106156759	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:106156759C>T	ENST00000540549.1	+	3	2520	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	TET2_ENST00000513237.1_Missense_Mutation_p.P575S|TET2_ENST00000413648.2_Missense_Mutation_p.P554S|TET2_ENST00000545826.1_Missense_Mutation_p.P554S|TET2_ENST00000380013.4_Missense_Mutation_p.P554S|TET2_ENST00000305737.2_Missense_Mutation_p.P554S|TET2_ENST00000394764.1_Missense_Mutation_p.P554S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	554					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGATCTTGTGCCCCCAACACA	0.488			"""Mis N, F"""		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(1723-1725)Ccc>Tcc		tet methylcytosine dioxygenase 2							92.0	93.0	93.0					4																	106156759		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106156759C>T	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1660C>T	4.37:g.106156759C>T	ENSP00000442788:p.Pro554Ser		Somatic				TET2_ENST00000394764.1_Missense_Mutation_p.P554S|TET2_ENST00000305737.2_Missense_Mutation_p.P554S|TET2_ENST00000413648.2_Missense_Mutation_p.P554S|TET2_ENST00000545826.1_Missense_Mutation_p.P554S|TET2_ENST00000540549.1_Missense_Mutation_p.P554S|TET2_ENST00000380013.4_Missense_Mutation_p.P554S	p.P575S			WXS	Illumina GAIIx	Phase_I	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2520	+		Myeloproliferative disorder(5;0.0393)	554					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.1723C>T	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	5.689	0.311728	0.10789	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15;2.15	5.59	4.75	0.60458	.	2.776670	0.02142	N	0.057237	T	0.17195	0.0413	N	0.14661	0.345	0.09310	N	1	B;B;B	0.34015	0.201;0.201;0.435	B;B;B	0.33620	0.023;0.023;0.167	T	0.36114	-0.9761	10	0.19147	T	0.46	.	12.7726	0.57429	0.0:0.9244:0.0:0.0756	.	575;554;554	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	S	554;554;554;575;554;554;554;554	ENSP00000306705:P554S;ENSP00000442788:P554S;ENSP00000442867:P554S;ENSP00000425443:P575S;ENSP00000369351:P554S;ENSP00000378245:P554S;ENSP00000391448:P554S	ENSP00000265149:P554S	P	+	1	0	TET2	106376208	0.002000	0.14202	0.006000	0.13384	0.025000	0.11179	1.519000	0.35888	1.368000	0.46115	0.650000	0.86243	CCC		0.488	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		4	234	0	0	0	1	0	4	234				
IPO4	79711	broad.mit.edu	37	14	24651164	24651164	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:24651164T>G	ENST00000354464.6	-	26	2980	c.2804A>C	c.(2803-2805)cAg>cCg	p.Q935P	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	935					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)		p.Q935P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AGGATACTCCTGGGCAGGGTG	0.652																																						ENST00000354464.6																			1	Substitution - Missense(1)	p.Q935P(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(2803-2805)cAg>cCg		importin 4							32.0	39.0	37.0					14																	24651164		2070	4195	6265	SO:0001583	missense	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24651164T>G	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2804A>C	14.37:g.24651164T>G	ENSP00000346453:p.Gln935Pro		Somatic				RP11-468E2.2_ENST00000561419.1_3'UTR	p.Q935P	NM_024658.3	NP_078934.3	WXS	Illumina GAIIx	Phase_I	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	26	2980	-			935					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.2804A>C	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.014233	0.54468	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.31510	1.49	5.84	4.65	0.58169	Armadillo-like helical (1);Armadillo-type fold (1);	0.568343	0.18758	N	0.131981	T	0.23532	0.0569	L	0.34521	1.04	0.35629	D	0.810054	B;B	0.24651	0.034;0.108	B;B	0.25759	0.063;0.061	T	0.20174	-1.0283	10	0.36615	T	0.2	.	10.3049	0.43674	0.1462:0.0:0.0:0.8538	.	935;935	Q8TEX9;Q8TEX9-2	IPO4_HUMAN;.	P	935;611	ENSP00000346453:Q935P	ENSP00000346453:Q935P	Q	-	2	0	IPO4	23721004	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.855000	0.39378	2.234000	0.73211	0.460000	0.39030	CAG		0.652	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		26	12	0	0	0	1	0	26	12				
HIVEP1	3096	broad.mit.edu	37	6	12122448	12122448	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:12122448C>T	ENST00000379388.2	+	4	2752	c.2420C>T	c.(2419-2421)tCt>tTt	p.S807F		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	807					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGTTCAAGCTCTGATATACCG	0.388																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(2419-2421)tCt>tTt		human immunodeficiency virus type I enhancer binding protein 1							136.0	127.0	130.0					6																	12122448		1897	4111	6008	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12122448C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2420C>T	6.37:g.12122448C>T	ENSP00000368698:p.Ser807Phe		Somatic					p.S807F	NM_002114.2	NP_002105.2	WXS	Illumina GAIIx	Phase_I	P15822	ZEP1_HUMAN			4	2752	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	807					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.2420C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045788	0.75846	.	.	ENSG00000095951	ENST00000379388	T	0.12039	2.72	6.01	6.01	0.97437	.	0.000000	0.35772	N	0.002997	T	0.36054	0.0953	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03695	-1.1012	9	.	.	.	-22.8109	20.5211	0.99222	0.0:1.0:0.0:0.0	.	807	P15822	ZEP1_HUMAN	F	807	ENSP00000368698:S807F	.	S	+	2	0	HIVEP1	12230434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.920000	0.70017	2.861000	0.98227	0.650000	0.86243	TCT		0.388	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		14	222	0	0	0	1	0	14	222				
SMYD3	64754	broad.mit.edu	37	1	246498745	246498745	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:246498745C>T	ENST00000388985.4	-	3	259	c.260G>A	c.(259-261)tGc>tAc	p.C87Y	SMYD3_ENST00000541742.1_Missense_Mutation_p.C28Y|SMYD3_ENST00000490107.1_Missense_Mutation_p.C28Y|SMYD3_ENST00000403792.3_Missense_Mutation_p.C87Y			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	87	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		AAGGCATTTGCATTCCCGCTT	0.388																																						ENST00000490107.1																			0				breast(3)|large_intestine(5)|lung(8)|skin(1)	17						c.(82-84)tGc>tAc		SET and MYND domain containing 3							159.0	160.0	159.0					1																	246498745		2203	4300	6503	SO:0001583	missense	64754					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:246498745C>T	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.260G>A	1.37:g.246498745C>T	ENSP00000373637:p.Cys87Tyr		Somatic				SMYD3_ENST00000541742.1_Missense_Mutation_p.C28Y|SMYD3_ENST00000388985.4_Missense_Mutation_p.C87Y|SMYD3_ENST00000403792.3_Missense_Mutation_p.C87Y	p.C28Y	NM_001167740.1	NP_001161212.1	WXS	Illumina GAIIx	Phase_I	Q9H7B4	SMYD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)	3	299	-	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	87					A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Missense_Mutation	SNP	ENST00000388985.4	37	c.83G>A	CCDS53486.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.875966	0.72180	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000388985;ENST00000453676;ENST00000403792;ENST00000455277	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	5.41	5.41	0.78517	SET domain (2);Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	H	0.98577	4.27	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75470	-0.3306	10	0.87932	D	0	-24.2332	18.557	0.91089	0.0:1.0:0.0:0.0	.	87	Q9H7B4	SMYD3_HUMAN	Y	28;28;87;28;87;28	ENSP00000444184:C28Y;ENSP00000419184:C28Y;ENSP00000373637:C87Y;ENSP00000408122:C28Y;ENSP00000385380:C87Y	ENSP00000373637:C87Y	C	-	2	0	SMYD3	244565368	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	5.566000	0.67372	2.704000	0.92352	0.655000	0.94253	TGC		0.388	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743		16	161	0	0	0	1	0	16	161				
NOBOX	135935	broad.mit.edu	37	7	144098145	144098145	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:144098145G>C	ENST00000467773.1	-	4	837	c.838C>G	c.(838-840)Cgc>Ggc	p.R280G	NOBOX_ENST00000483238.1_Missense_Mutation_p.R280G|NOBOX_ENST00000223140.5_Missense_Mutation_p.R195G	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	280					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R280G(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TTACCTGAGCGGTATAGGGTT	0.542																																						ENST00000467773.1																			2	Substitution - Missense(2)	p.R280G(2)	kidney(2)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(838-840)Cgc>Ggc		NOBOX oogenesis homeobox							76.0	72.0	73.0					7																	144098145		1844	4092	5936	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098145G>C			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.838C>G	7.37:g.144098145G>C	ENSP00000419457:p.Arg280Gly		Somatic				NOBOX_ENST00000483238.1_Missense_Mutation_p.R280G|NOBOX_ENST00000223140.5_Missense_Mutation_p.R195G	p.R280G	NM_001080413.3	NP_001073882.3	WXS	Illumina GAIIx	Phase_I	O60393	NOBOX_HUMAN			4	837	-	Melanoma(164;0.14)		280					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.838C>G		.	.	.	.	.	.	.	.	.	.	G	19.11	3.762985	0.69763	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.95518	-3.73;-3.73;-3.73	5.15	5.15	0.70609	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.135341	0.49305	D	0.000145	D	0.94739	0.8302	N	0.14661	0.345	0.36463	D	0.866787	D	0.76494	0.999	D	0.77557	0.99	D	0.96285	0.9209	10	0.62326	D	0.03	-31.9255	13.9985	0.64419	0.0:0.0:1.0:0.0	.	280	O60393	NOBOX_HUMAN	G	280;280;195;69	ENSP00000419565:R280G;ENSP00000419457:R280G;ENSP00000223140:R195G	ENSP00000223140:R195G	R	-	1	0	NOBOX	143729078	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.884000	0.48562	2.671000	0.90904	0.650000	0.86243	CGC		0.542	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		12	24	0	0	0	1	0	12	24				
MAST4	375449	broad.mit.edu	37	5	66398378	66398378	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:66398378C>T	ENST00000403625.2	+	9	1380	c.1085C>T	c.(1084-1086)cCc>cTc	p.P362L	MAST4_ENST00000404260.3_Missense_Mutation_p.P365L|MAST4_ENST00000490016.2_Missense_Mutation_p.P173L|MAST4_ENST00000261569.7_Missense_Mutation_p.P168L|MAST4_ENST00000405643.1_Missense_Mutation_p.P183L|MAST4_ENST00000403666.1_Missense_Mutation_p.P173L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	365						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGACGTTCTCCCGCCTGCTGT	0.378																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(1093-1095)cCc>cTc		microtubule associated serine/threonine kinase family member 4							129.0	124.0	126.0					5																	66398378		1871	4105	5976	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66398378C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.1085C>T	5.37:g.66398378C>T	ENSP00000385727:p.Pro362Leu		Somatic				MAST4_ENST00000261569.7_Missense_Mutation_p.P168L|MAST4_ENST00000403625.2_Missense_Mutation_p.P362L|MAST4_ENST00000405643.1_Missense_Mutation_p.P183L|MAST4_ENST00000403666.1_Missense_Mutation_p.P173L|MAST4_ENST00000490016.2_Missense_Mutation_p.P173L	p.P365L			WXS	Illumina GAIIx	Phase_I	O15021	MAST4_HUMAN		Lung(70;0.011)	9	1402	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	365					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.1094C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953907	0.92660	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000490016;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	5.82	4.93	0.64822	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.089231	0.45361	U	0.000366	T	0.59432	0.2193	M	0.82630	2.6	0.48632	D	0.999682	D;P;P;B;D	0.89917	1.0;0.872;0.732;0.364;0.992	D;P;P;B;D	0.79108	0.992;0.593;0.458;0.257;0.938	T	0.66048	-0.6020	10	0.59425	D	0.04	-12.7609	16.0332	0.80597	0.1354:0.8646:0.0:0.0	.	183;365;168;173;173	E7EWQ5;O15021;O15021-2;O15021-3;D6RAK1	.;MAST4_HUMAN;.;.;.	L	365;362;173;173;183;183;168;168	ENSP00000385048:P365L;ENSP00000385727:P362L;ENSP00000421739:P173L;ENSP00000384313:P173L;ENSP00000384099:P183L;ENSP00000261569:P168L	ENSP00000261569:P168L	P	+	2	0	MAST4	66434134	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.087000	0.71362	1.407000	0.46875	0.655000	0.94253	CCC		0.378	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			5	211	0	0	0	1	0	5	211				
STYK1	55359	broad.mit.edu	37	12	10786630	10786630	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:10786630A>C	ENST00000075503.3	-	4	666	c.146T>G	c.(145-147)aTc>aGc	p.I49S		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TTGTTCTCTGATAAAAAGCCA	0.453										HNSCC(73;0.22)																												ENST00000075503.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						c.(145-147)aTc>aGc		serine/threonine/tyrosine kinase 1							204.0	203.0	203.0					12																	10786630		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10786630A>C	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.146T>G	12.37:g.10786630A>C	ENSP00000075503:p.Ile49Ser	HNSCC(73;0.22)	Somatic					p.I49S	NM_018423.2	NP_060893.2	WXS	Illumina GAIIx	Phase_I	Q6J9G0	STYK1_HUMAN			4	666	-			49					B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.146T>G	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.564064	0.45694	.	.	ENSG00000060140	ENST00000075503;ENST00000542562;ENST00000538867;ENST00000535345	T;T;T	0.78924	-1.22;0.77;0.76	5.64	5.64	0.86602	.	0.226336	0.38959	N	0.001509	T	0.71702	0.3371	L	0.60455	1.87	0.31768	N	0.632429	B	0.18166	0.026	B	0.18263	0.021	T	0.69982	-0.4997	10	0.26408	T	0.33	-20.1196	9.9374	0.41559	0.8292:0.1708:0.0:0.0	.	49	Q6J9G0	STYK1_HUMAN	S	49	ENSP00000075503:I49S;ENSP00000446241:I49S;ENSP00000445391:I49S	ENSP00000075503:I49S	I	-	2	0	STYK1	10677897	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.090000	0.41682	2.145000	0.66743	0.459000	0.35465	ATC		0.453	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		10	1334	0	0	0	1	0	10	1334				
HINFP	25988	broad.mit.edu	37	11	119001499	119001499	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:119001499C>T	ENST00000350777.2	+	3	309	c.246C>T	c.(244-246)ctC>ctT	p.L82L	HINFP_ENST00000527410.1_Silent_p.L82L|HINFP_ENST00000527354.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	82					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGCTGACCTCATCCGCCATG	0.527																																						ENST00000350777.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(244-246)ctC>ctT		histone H4 transcription factor							129.0	118.0	122.0					11																	119001499		2200	4295	6495	SO:0001819	synonymous_variant	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119001499C>T	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.246C>T	11.37:g.119001499C>T			Somatic				HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Silent_p.L82L	p.L82L	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	WXS	Illumina GAIIx	Phase_I	Q9BQA5	HINFP_HUMAN			3	309	+			82					B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Silent	SNP	ENST00000350777.2	37	c.246C>T	CCDS8414.1																																																																																				0.527	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		10	247	0	0	0	1	0	10	247				
MPPED1	758	broad.mit.edu	37	22	43870629	43870629	+	Silent	SNP	C	C	T	rs532827143	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:43870629C>T	ENST00000417669.2	+	4	864	c.420C>T	c.(418-420)taC>taT	p.Y140Y	MPPED1_ENST00000542779.1_Silent_p.Y140Y|MPPED1_ENST00000443721.1_Silent_p.Y140Y|MPPED1_ENST00000538182.1_Silent_p.Y173Y|MPPED1_ENST00000439548.1_5'UTR|MPPED1_ENST00000414469.2_Silent_p.Y34Y			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	140							hydrolase activity (GO:0016787)	p.Y140*(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCCTGCCCTACGAGTACAAGA	0.582													C|||	5	0.000998403	0.0	0.0	5008	,	,		22219	0.001		0.0	False		,,,				2504	0.0041					ENST00000417669.1																			1	Substitution - Nonsense(1)	p.Y140*(1)	lung(1)	endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13						c.(418-420)taC>taT		metallophosphoesterase domain containing 1							98.0	100.0	100.0					22																	43870629		2116	4250	6366	SO:0001819	synonymous_variant	758						hydrolase activity	g.chr22:43870629C>T	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.420C>T	22.37:g.43870629C>T			Somatic				MPPED1_ENST00000439548.1_5'UTR|MPPED1_ENST00000542779.1_Silent_p.Y140Y|MPPED1_ENST00000414469.2_Silent_p.Y34Y|MPPED1_ENST00000538182.1_Silent_p.Y173Y|MPPED1_ENST00000443721.1_Silent_p.Y140Y	p.Y140Y			WXS	Illumina GAIIx	Phase_I	O15442	MPPD1_HUMAN			4	864	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	140					A8K159|B7Z2S9|Q8N361	Silent	SNP	ENST00000417669.2	37	c.420C>T	CCDS46723.1																																																																																				0.582	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		5	248	0	0	0	1	0	5	248				
NPL	80896	broad.mit.edu	37	1	182794914	182794914	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:182794914A>T	ENST00000367553.1	+	11	782		c.e11-1		NPL_ENST00000463899.1_Splice_Site|NPL_ENST00000367555.1_Splice_Site|NPL_ENST00000258317.2_Splice_Site|NPL_ENST00000367552.2_Splice_Site|NPL_ENST00000367554.3_Splice_Site	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)						carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						GTTCTTTTCTAGTTTTGTATC	0.338																																						ENST00000367554.3																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						c.e10-1		N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)							132.0	142.0	138.0					1																	182794914		2203	4300	6503	SO:0001630	splice_region_variant	80896				carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity	g.chr1:182794914A>T	AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 1 (E. coli)"""	611412	"""chromosome 1 open reading frame 13"""	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.739-1A>T	1.37:g.182794914A>T			Somatic				NPL_ENST00000258317.2_Splice_Site|NPL_ENST00000367553.1_Splice_Site|NPL_ENST00000367555.1_Splice_Site|NPL_ENST00000367552.2_Splice_Site|NPL_ENST00000463899.1_Splice_Site		NM_001200050.1	NP_001186979.1	WXS	Illumina GAIIx	Phase_I	Q9BXD5	NPL_HUMAN			10	999	+								B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Splice_Site	SNP	ENST00000367553.1	37		CCDS1350.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.719870	0.68844	.	.	ENSG00000135838	ENST00000367555;ENST00000445965;ENST00000367554;ENST00000367553;ENST00000367552;ENST00000258317	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0794	0.64912	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPL	181061537	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	5.342000	0.65970	2.148000	0.66965	0.460000	0.39030	.		0.338	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769	Intron	10	213	0	0	0	1	0	10	213				
RGS2	5997	broad.mit.edu	37	1	192779366	192779366	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:192779366G>A	ENST00000235382.5	+	2	212	c.181G>A	c.(181-183)Ggc>Agc	p.G61S	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	61	Necessary for membrane association.				brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						GCCCAAAACCGGCAAAAAAAG	0.363																																					Pancreas(71;51 2183 4981)	ENST00000235382.5																			0				large_intestine(3)|lung(1)|urinary_tract(1)	5						c.(181-183)Ggc>Agc		regulator of G-protein signaling 2, 24kDa							77.0	81.0	80.0					1																	192779366		2203	4300	6503	SO:0001583	missense	5997				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192779366G>A	L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"""Regulators of G-protein signaling"", ""Endogenous ligands"""	9998	protein-coding gene	gene with protein product		600861	"""regulator of G-protein signalling 2, 24kD"", ""regulator of G-protein signalling 2, 24kDa"", ""regulator of G-protein signaling 2, 24kDa"""	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.181G>A	1.37:g.192779366G>A	ENSP00000235382:p.Gly61Ser		Somatic				RGS2_ENST00000483295.1_3'UTR	p.G61S	NM_002923.3	NP_002914.1	WXS	Illumina GAIIx	Phase_I	P41220	RGS2_HUMAN			2	212	+			61			Necessary for membrane association.		Q6I9U5	Missense_Mutation	SNP	ENST00000235382.5	37	c.181G>A	CCDS1377.1	.	.	.	.	.	.	.	.	.	.	G	3.045	-0.196614	0.06259	.	.	ENSG00000116741	ENST00000235382	T	0.69926	-0.44	5.37	-3.14	0.05250	.	1.061660	0.07252	N	0.866029	T	0.43077	0.1231	N	0.14661	0.345	0.09310	N	0.999999	B	0.12630	0.006	B	0.04013	0.001	T	0.38757	-0.9646	10	0.05833	T	0.94	.	12.1125	0.53848	0.7552:0.0:0.2448:0.0	.	61	P41220	RGS2_HUMAN	S	61	ENSP00000235382:G61S	ENSP00000235382:G61S	G	+	1	0	RGS2	191045989	0.331000	0.24713	0.268000	0.24571	0.845000	0.48019	0.406000	0.21032	-0.380000	0.07894	-0.345000	0.07892	GGC		0.363	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1	NM_002923		3	94	0	0	0	1	0	3	94				
SLC11A1	6556	broad.mit.edu	37	2	219252544	219252544	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:219252544C>T	ENST00000233202.6	+	8	1001	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	SLC11A1_ENST00000539932.1_Nonsense_Mutation_p.Q103*	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	221					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTCCTGAGCAGGGAGCGCT	0.682																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(661-663)Cag>Tag		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							21.0	23.0	23.0					2																	219252544		2202	4298	6500	SO:0001587	stop_gained	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219252544C>T	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.661C>T	2.37:g.219252544C>T	ENSP00000233202:p.Gln221*		Somatic				SLC11A1_ENST00000539932.1_Nonsense_Mutation_p.Q103*	p.Q221*	NM_000578.3	NP_000569.3	WXS	Illumina GAIIx	Phase_I	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1001	+		Renal(207;0.0474)	221					C0H5Y3	Nonsense_Mutation	SNP	ENST00000233202.6	37	c.661C>T	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	C	38	6.801290	0.97849	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	.	.	.	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-23.1493	18.4746	0.90788	0.0:1.0:0.0:0.0	.	.	.	.	X	221;103	.	ENSP00000233202:Q221X	Q	+	1	0	SLC11A1	218960788	1.000000	0.71417	0.905000	0.35620	0.066000	0.16364	7.338000	0.79269	2.665000	0.90641	0.561000	0.74099	CAG		0.682	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		4	16	0	0	0	1	0	4	16				
KRT13	3860	broad.mit.edu	37	17	39661407	39661407	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:39661407C>T	ENST00000246635.3	-	1	442	c.396G>A	c.(394-396)ctG>ctA	p.L132L	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Silent_p.L132L|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Silent_p.L132L	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	132	Coil 1A.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TCTTCACCTCCAGGTCAGCGT	0.597																																						ENST00000246635.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(394-396)ctG>ctA		keratin 13							127.0	120.0	122.0					17																	39661407		2203	4300	6503	SO:0001819	synonymous_variant	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39661407C>T		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.396G>A	17.37:g.39661407C>T			Somatic				KRT13_ENST00000336861.3_Silent_p.L132L|KRT13_ENST00000587544.1_Silent_p.L132L	p.L132L	NM_153490.2	NP_705694.2	WXS	Illumina GAIIx	Phase_I	P13646	K1C13_HUMAN			1	442	-		Breast(137;0.000286)	132			Coil 1A.|Rod.		Q53G54|Q6AZK5|Q8N240	Silent	SNP	ENST00000246635.3	37	c.396G>A	CCDS11396.1																																																																																				0.597	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		6	208	0	0	0	1	0	6	208				
CLTCL1	8218	broad.mit.edu	37	22	19226822	19226822	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:19226822C>T	ENST00000263200.10	-	5	843	c.771G>A	c.(769-771)caG>caA	p.Q257Q	CLTCL1_ENST00000353891.5_Silent_p.Q257Q|CLTCL1_ENST00000427926.1_Silent_p.Q257Q	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	257	Globular terminal domain.|WD40-like repeat 5.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GAAAATCATTCTGTGCCTCTG	0.453			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(769-771)caG>caA		clathrin, heavy chain-like 1							192.0	191.0	191.0					22																	19226822		1923	4135	6058	SO:0001819	synonymous_variant	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19226822C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.771G>A	22.37:g.19226822C>T			Somatic				CLTCL1_ENST00000353891.5_Silent_p.Q257Q|CLTCL1_ENST00000427926.1_Silent_p.Q257Q	p.Q257Q	NM_007098.3	NP_009029.3	WXS	Illumina GAIIx	Phase_I	P53675	CLH2_HUMAN			5	843	-	Colorectal(54;0.0993)		257			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	c.771G>A	CCDS46662.1																																																																																				0.453	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		11	451	0	0	0	1	0	11	451				
FLG2	388698	broad.mit.edu	37	1	152323970	152323970	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152323970C>T	ENST00000388718.5	-	3	6364	c.6292G>A	c.(6292-6294)Gct>Act	p.A2098T	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2098					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCTTCCAGCTGTCCTTGAC	0.522																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6292-6294)Gct>Act		filaggrin family member 2							485.0	443.0	457.0					1																	152323970		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323970C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6292G>A	1.37:g.152323970C>T	ENSP00000373370:p.Ala2098Thr		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.A2098T	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6364	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2098					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6292G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	2.772	-0.255540	0.05829	.	.	ENSG00000143520	ENST00000388718	T	0.02216	4.39	4.32	-8.64	0.00874	.	.	.	.	.	T	0.00241	0.0007	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48547	-0.9026	9	0.13108	T	0.6	2.5472	6.7246	0.23348	0.2382:0.5153:0.0:0.2464	.	2098	Q5D862	FILA2_HUMAN	T	2098	ENSP00000373370:A2098T	ENSP00000373370:A2098T	A	-	1	0	FLG2	150590594	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-5.001000	0.00161	-1.903000	0.01093	-1.085000	0.02201	GCT		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		37	1868	0	0	0	1	0	37	1868				
PLA2G15	23659	broad.mit.edu	37	16	68283347	68283347	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:68283347C>G	ENST00000219345.5	+	2	365	c.282C>G	c.(280-282)atC>atG	p.I94M	PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Intron|PLA2G15_ENST00000566188.1_Missense_Mutation_p.I94M	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	94				I -> T (in Ref. 4; BAD96510). {ECO:0000305}.	ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)	p.I94M(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						TTGACAATATCAGGTGGGGGC	0.547																																						ENST00000219345.5																			1	Substitution - Missense(1)	p.I94M(1)	kidney(1)	kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						c.(280-282)atC>atG		phospholipase A2, group XV							71.0	65.0	67.0					16																	68283347		2198	4300	6498	SO:0001583	missense	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68283347C>G	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.282C>G	16.37:g.68283347C>G	ENSP00000219345:p.Ile94Met		Somatic				PLA2G15_ENST00000566188.1_Missense_Mutation_p.I94M|PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Intron	p.I94M	NM_012320.3	NP_036452.1	WXS	Illumina GAIIx	Phase_I	Q8NCC3	PAG15_HUMAN			2	365	+			94	I -> T (in Ref. 4; BAD96510).				B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	ENST00000219345.5	37	c.282C>G	CCDS10864.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513809	0.27123	.	.	ENSG00000103066	ENST00000219345	D	0.95342	-3.68	5.38	5.38	0.77491	.	0.140698	0.64402	D	0.000005	D	0.89560	0.6750	N	0.13140	0.3	0.80722	D	1	P;B	0.39535	0.677;0.251	B;B	0.43445	0.42;0.108	D	0.87035	0.2137	10	0.05620	T	0.96	-22.8038	19.1027	0.93281	0.0:1.0:0.0:0.0	.	94;94	B4DJW4;Q8NCC3	.;PAG15_HUMAN	M	94	ENSP00000219345:I94M	ENSP00000219345:I94M	I	+	3	3	PLA2G15	66840848	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.683000	0.37638	2.692000	0.91855	0.561000	0.74099	ATC		0.547	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		53	161	0	0	0	1	0	53	161				
ST3GAL4	6484	broad.mit.edu	37	11	126283520	126283520	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:126283520C>T	ENST00000526727.1	+	9	1266	c.892C>T	c.(892-894)Cag>Tag	p.Q298*	ST3GAL4_ENST00000534083.1_Nonsense_Mutation_p.Q298*|ST3GAL4_ENST00000532243.1_Nonsense_Mutation_p.Q297*|ST3GAL4_ENST00000534457.1_Nonsense_Mutation_p.Q293*|ST3GAL4_ENST00000530591.1_Nonsense_Mutation_p.Q294*|ST3GAL4_ENST00000227495.6_Nonsense_Mutation_p.Q294*|ST3GAL4_ENST00000356132.4_Nonsense_Mutation_p.Q304*|ST3GAL4_ENST00000449406.2_Nonsense_Mutation_p.Q287*|ST3GAL4_ENST00000392669.2_Nonsense_Mutation_p.Q298*|ST3GAL4_ENST00000444328.2_Nonsense_Mutation_p.Q298*			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	298					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CTACTATGAGCAGATCACGCT	0.597																																						ENST00000526727.1																			0				endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(892-894)Cag>Tag		ST3 beta-galactoside alpha-2,3-sialyltransferase 4							116.0	92.0	100.0					11																	126283520		2201	4297	6498	SO:0001587	stop_gained	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126283520C>T	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.892C>T	11.37:g.126283520C>T	ENSP00000436047:p.Gln298*		Somatic				ST3GAL4_ENST00000534457.1_Nonsense_Mutation_p.Q293*|ST3GAL4_ENST00000534083.1_Nonsense_Mutation_p.Q298*|ST3GAL4_ENST00000530591.1_Nonsense_Mutation_p.Q294*|ST3GAL4_ENST00000532243.1_Nonsense_Mutation_p.Q297*|ST3GAL4_ENST00000444328.2_Nonsense_Mutation_p.Q298*|ST3GAL4_ENST00000449406.2_Nonsense_Mutation_p.Q287*|ST3GAL4_ENST00000392669.2_Nonsense_Mutation_p.Q298*|ST3GAL4_ENST00000356132.4_Nonsense_Mutation_p.Q304*|ST3GAL4_ENST00000227495.6_Nonsense_Mutation_p.Q294*	p.Q298*			WXS	Illumina GAIIx	Phase_I	Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	9	1266	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	298					A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Nonsense_Mutation	SNP	ENST00000526727.1	37	c.892C>T	CCDS58193.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477076	0.84640	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457;ENST00000524860	.	.	.	5.33	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	8.5301	0.33329	0.1478:0.7714:0.0:0.0808	.	.	.	.	X	294;298;304;294;298;298;298;287;297;293;134	.	ENSP00000227495:Q294X	Q	+	1	0	ST3GAL4	125788730	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.528000	0.35985	1.133000	0.42147	0.455000	0.32223	CAG		0.597	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		4	213	0	0	0	1	0	4	213				
RHBDD2	57414	broad.mit.edu	37	7	75513104	75513104	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:75513104G>C	ENST00000006777.6	+	3	810	c.675G>C	c.(673-675)agG>agC	p.R225S	RHBDD2_ENST00000428119.1_Missense_Mutation_p.R84S|RHBDD2_ENST00000318622.4_Missense_Mutation_p.R84S|RHBDD2_ENST00000468304.1_Intron	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	225						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						TGATGAGGAGGATATCCGTGT	0.527																																						ENST00000318622.4																			0				kidney(1)|lung(4)|prostate(1)	6						c.(250-252)agG>agC		rhomboid domain containing 2							153.0	149.0	151.0					7																	75513104		2029	4191	6220	SO:0001583	missense	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75513104G>C	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.675G>C	7.37:g.75513104G>C	ENSP00000006777:p.Arg225Ser		Somatic				RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000006777.6_Missense_Mutation_p.R225S|RHBDD2_ENST00000428119.1_Missense_Mutation_p.R84S	p.R84S	NM_001040457.1	NP_001035547.1	WXS	Illumina GAIIx	Phase_I	Q6NTF9	RHBD2_HUMAN			4	881	+			225					Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Missense_Mutation	SNP	ENST00000006777.6	37	c.252G>C	CCDS43602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.32|12.32	1.903524|1.903524	0.33628|0.33628	.|.	.|.	ENSG00000005486|ENSG00000005486	ENST00000413229|ENST00000006777;ENST00000318622;ENST00000428119	.|T	.|0.38077	.|1.16	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|2.875200	.|0.01065	.|N	.|0.004716	T|T	0.35595|0.35595	0.0937|0.0937	L|L	0.29908|0.29908	0.895|0.895	0.32282|0.32282	N|N	0.567453|0.567453	.|P	.|0.37423	.|0.594	.|B	.|0.38562	.|0.276	T|T	0.28808|0.28808	-1.0032|-1.0032	6|10	0.15952|0.56958	T|D	0.53|0.05	-6.9309|-6.9309	9.573|9.573	0.39440|0.39440	0.0769:0.1434:0.7797:0.0|0.0769:0.1434:0.7797:0.0	.|.	.|225	.|Q6NTF9	.|RHBD2_HUMAN	H|S	270|225;84;84	.|ENSP00000006777:R225S	ENSP00000407074:D270H|ENSP00000006777:R225S	D|R	+|+	1|3	0|2	RHBDD2|RHBDD2	75351040|75351040	0.992000|0.992000	0.36948|0.36948	0.872000|0.872000	0.34217|0.34217	0.364000|0.364000	0.29643|0.29643	1.777000|1.777000	0.38604|0.38604	2.630000|2.630000	0.89119|0.89119	0.650000|0.650000	0.86243|0.86243	GAT|AGG		0.527	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684		3	325	0	0	0	1	0	3	325				
CAV2	858	broad.mit.edu	37	7	116140323	116140323	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:116140323G>A	ENST00000222693.4	+	2	552	c.160G>A	c.(160-162)Gag>Aag	p.E54K	CAV2_ENST00000462876.1_3'UTR|CAV2_ENST00000393480.2_Missense_Mutation_p.E54K|CAV2_ENST00000343213.2_Intron|AC002066.1_ENST00000446355.2_RNA	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	54					caveola assembly (GO:0070836)|endoplasmic reticulum organization (GO:0007029)|mitochondrion organization (GO:0007005)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of endothelial cell proliferation (GO:0001938)|protein oligomerization (GO:0051259)|regulation of mitosis (GO:0007088)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)|vesicle docking (GO:0048278)|vesicle fusion (GO:0006906)|vesicle organization (GO:0016050)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	D1 dopamine receptor binding (GO:0031748)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			GCTGGGCTTCGAGGATGTGAT	0.577																																						ENST00000222693.4																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(160-162)Gag>Aag		caveolin 2							111.0	96.0	101.0					7																	116140323		2203	4300	6503	SO:0001583	missense	858				caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity	g.chr7:116140323G>A	AF035752	CCDS5765.1, CCDS5766.1	7q31	2006-02-09			ENSG00000105971	ENSG00000105971			1528	protein-coding gene	gene with protein product		601048				8552590, 10087206	Standard	NM_001233		Approved	CAV	uc003vid.3	P51636	OTTHUMG00000023414	ENST00000222693.4:c.160G>A	7.37:g.116140323G>A	ENSP00000222693:p.Glu54Lys		Somatic				CAV2_ENST00000393480.2_Missense_Mutation_p.E54K|CAV2_ENST00000343213.2_Intron|CAV2_ENST00000462876.1_3'UTR	p.E54K	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	WXS	Illumina GAIIx	Phase_I	P51636	CAV2_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		2	552	+	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		54					A4D0U2|Q9UGM7	Missense_Mutation	SNP	ENST00000222693.4	37	c.160G>A	CCDS5766.1	.	.	.	.	.	.	.	.	.	.	G	35	5.570060	0.96540	.	.	ENSG00000105971	ENST00000222693;ENST00000393480	D;D	0.94758	-3.51;-3.51	4.6	2.69	0.31865	Caveolin, conserved site (1);	0.270254	0.42053	D	0.000764	D	0.97139	0.9065	M	0.92268	3.29	0.80722	D	1	P	0.52842	0.956	P	0.57371	0.819	D	0.97241	0.9891	10	0.72032	D	0.01	-30.7784	14.4974	0.67698	0.0:0.2803:0.7197:0.0	.	54	P51636	CAV2_HUMAN	K	54	ENSP00000222693:E54K;ENSP00000377120:E54K	ENSP00000222693:E54K	E	+	1	0	CAV2	115927559	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.480000	0.66820	0.421000	0.25980	0.563000	0.77884	GAG		0.577	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059735.4	NM_001233		7	108	0	0	0	1	0	7	108				
CELA3B	23436	broad.mit.edu	37	1	22304925	22304925	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:22304925T>A	ENST00000337107.6	+	2	126	c.107T>A	c.(106-108)gTc>gAc	p.V36D	RN7SL421P_ENST00000582599.1_RNA	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	36	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.V36D(1)		breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GAGGATGCGGTCCCCTACAGC	0.622																																						ENST00000337107.6																			1	Substitution - Missense(1)	p.V36D(1)	kidney(1)	breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(106-108)gTc>gAc		chymotrypsin-like elastase family, member 3B							142.0	90.0	108.0					1																	22304925		2203	4300	6503	SO:0001583	missense	23436				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:22304925T>A	M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"""proteinase E"", ""elastase 1"", ""cholesterol-binding pancreatic protease"", ""pancreatic endopeptidase E"""		"""elastase 3B, pancreatic"""	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.107T>A	1.37:g.22304925T>A	ENSP00000338369:p.Val36Asp		Somatic					p.V36D	NM_007352.2	NP_031378.1	WXS	Illumina GAIIx	Phase_I	P08861	CEL3B_HUMAN			2	126	+			36			Peptidase S1.		B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Missense_Mutation	SNP	ENST00000337107.6	37	c.107T>A	CCDS219.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.679528	0.47886	.	.	ENSG00000219073	ENST00000337107;ENST00000374666	D;D	0.88277	-2.36;-2.36	5.1	3.89	0.44902	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.570267	0.17813	N	0.161143	D	0.84674	0.5524	L	0.35793	1.09	0.09310	N	0.999996	P;B	0.47677	0.899;0.011	P;B	0.49953	0.627;0.029	T	0.75025	-0.3463	10	0.34782	T	0.22	-17.6268	3.9217	0.09247	0.1853:0.0973:0.0:0.7174	.	36;36	B1AQ52;P08861	.;CEL3B_HUMAN	D	36;52	ENSP00000338369:V36D;ENSP00000363798:V52D	ENSP00000338369:V36D	V	+	2	0	CELA3B	22177512	0.000000	0.05858	0.300000	0.25030	0.939000	0.58152	0.503000	0.22610	1.924000	0.55735	0.528000	0.53228	GTC		0.622	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007797.1	NM_007352		53	95	0	0	0	1	0	53	95				
USP28	57646	broad.mit.edu	37	11	113683165	113683165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:113683165C>T	ENST00000003302.4	-	16	1873	c.1805G>A	c.(1804-1806)tGg>tAg	p.W602*	USP28_ENST00000544967.1_Nonsense_Mutation_p.W310*|USP28_ENST00000545540.1_Nonsense_Mutation_p.W477*|USP28_ENST00000260188.5_Nonsense_Mutation_p.W602*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	602	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GATATAGGCCCAATAGTGTCC	0.443																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1804-1806)tGg>tAg		ubiquitin specific peptidase 28							136.0	140.0	139.0					11																	113683165		2201	4296	6497	SO:0001587	stop_gained	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113683165C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1805G>A	11.37:g.113683165C>T	ENSP00000003302:p.Trp602*		Somatic				USP28_ENST00000260188.5_Nonsense_Mutation_p.W602*|USP28_ENST00000545540.1_Nonsense_Mutation_p.W477*|USP28_ENST00000544967.1_Nonsense_Mutation_p.W310*	p.W602*	NM_020886.2	NP_065937.1	WXS	Illumina GAIIx	Phase_I	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	16	1873	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	602					B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP	ENST00000003302.4	37	c.1805G>A	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	39	7.447250	0.98289	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4685	19.1336	0.93417	0.0:1.0:0.0:0.0	.	.	.	.	X	602;602;310;477;306	.	ENSP00000003302:W602X	W	-	2	0	USP28	113188375	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.504000	0.84457	0.655000	0.94253	TGG		0.443	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			5	176	0	0	0	1	0	5	176				
SLC25A13	10165	broad.mit.edu	37	7	95775879	95775879	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:95775879C>T	ENST00000265631.5	-	14	1577	c.1441G>A	c.(1441-1443)Ggg>Agg	p.G481R	SLC25A13_ENST00000416240.2_Missense_Mutation_p.G482R|SLC25A13_ENST00000542654.1_Missense_Mutation_p.G373R			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	481					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTGTAGATCCCAAAAAACCCC	0.388																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(1444-1446)Ggg>Agg		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						95.0	111.0	106.0					7																	95775879		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95775879C>T	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1441G>A	7.37:g.95775879C>T	ENSP00000265631:p.Gly481Arg		Somatic				SLC25A13_ENST00000265631.5_Missense_Mutation_p.G481R|SLC25A13_ENST00000542654.1_Missense_Mutation_p.G373R	p.G482R	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	WXS	Illumina GAIIx	Phase_I	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		14	1634	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		481					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.1444G>A	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904080	0.92035	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	D;D;D	0.83163	-1.69;-1.69;-1.69	4.63	4.63	0.57726	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93194	0.7832	M	0.92880	3.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94541	0.7745	10	0.66056	D	0.02	-11.441	18.0706	0.89405	0.0:1.0:0.0:0.0	.	373;482;481	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	R	481;482;373	ENSP00000265631:G481R;ENSP00000400101:G482R;ENSP00000440484:G373R	ENSP00000265631:G481R	G	-	1	0	SLC25A13	95613815	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.575000	0.86900	0.655000	0.94253	GGG		0.388	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		6	163	0	0	0	1	0	6	163				
KCTD18	130535	broad.mit.edu	37	2	201354993	201354993	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:201354993G>C	ENST00000359878.3	-	7	1621	c.1111C>G	c.(1111-1113)Cct>Gct	p.P371A	KCTD18_ENST00000468413.1_5'Flank|KCTD18_ENST00000409157.1_Missense_Mutation_p.P371A	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	371					protein homooligomerization (GO:0051260)			p.P371A(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TGGGGTGTAGGCTTCTTGTCG	0.647																																						ENST00000359878.3																			1	Substitution - Missense(1)	p.P371A(1)	kidney(1)	endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1111-1113)Cct>Gct		potassium channel tetramerization domain containing 18							86.0	84.0	84.0					2																	201354993		2203	4300	6503	SO:0001583	missense	130535					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:201354993G>C	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.1111C>G	2.37:g.201354993G>C	ENSP00000352941:p.Pro371Ala		Somatic				KCTD18_ENST00000409157.1_Missense_Mutation_p.P371A	p.P371A	NM_152387.2	NP_689600.2	WXS	Illumina GAIIx	Phase_I	Q6PI47	KCD18_HUMAN			7	1621	-			371					Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	c.1111C>G	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	G	7.323	0.617331	0.14129	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.30714	1.52;1.52	4.61	-9.23	0.00672	.	1.051430	0.07443	N	0.897636	T	0.11110	0.0271	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25398	-1.0133	10	0.23302	T	0.38	3.0E-4	6.7388	0.23424	0.1044:0.5549:0.2452:0.0955	.	371	Q6PI47	KCD18_HUMAN	A	371	ENSP00000352941:P371A;ENSP00000386751:P371A	ENSP00000352941:P371A	P	-	1	0	KCTD18	201063238	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.089000	0.03376	-2.047000	0.00908	-0.175000	0.13238	CCT		0.647	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387		40	170	0	0	0	1	0	40	170				
ZZEF1	23140	broad.mit.edu	37	17	3992096	3992096	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:3992096G>A	ENST00000381638.2	-	13	2241	c.2117C>T	c.(2116-2118)gCa>gTa	p.A706V	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	706							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.A706V(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTCTGCTCTTGCAGGCCGGAG	0.567																																						ENST00000381638.2																			1	Substitution - Missense(1)	p.A706V(1)	endometrium(1)	central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(2116-2118)gCa>gTa		zinc finger, ZZ-type with EF-hand domain 1							143.0	105.0	117.0					17																	3992096		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3992096G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2117C>T	17.37:g.3992096G>A	ENSP00000371051:p.Ala706Val		Somatic				ZZEF1_ENST00000574474.1_5'UTR	p.A706V	NM_015113.3	NP_055928.3	WXS	Illumina GAIIx	Phase_I	O43149	ZZEF1_HUMAN			13	2241	-			706					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.2117C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453818	0.43531	.	.	ENSG00000074755	ENST00000381638	T	0.21361	2.01	5.91	1.53	0.23141	.	0.844597	0.11246	N	0.584196	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	B;B	0.18166	0.026;0.015	B;B	0.21360	0.034;0.015	T	0.30179	-0.9987	10	0.44086	T	0.13	0.0472	4.6219	0.12460	0.2228:0.0:0.5331:0.2441	.	706;706	O43149-3;O43149	.;ZZEF1_HUMAN	V	706	ENSP00000371051:A706V	ENSP00000371051:A706V	A	-	2	0	ZZEF1	3938845	0.001000	0.12720	0.013000	0.15412	0.977000	0.68977	0.875000	0.28079	0.416000	0.25844	0.650000	0.86243	GCA		0.567	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		4	114	0	0	0	1	0	4	114				
NAV2	89797	broad.mit.edu	37	11	19970423	19970423	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:19970423C>T	ENST00000396087.3	+	11	2610	c.2511C>T	c.(2509-2511)atC>atT	p.I837I	NAV2_ENST00000540292.1_Silent_p.I768I|NAV2_ENST00000527559.2_Silent_p.I766I|NAV2_ENST00000349880.4_Silent_p.I814I|NAV2_ENST00000396085.1_Silent_p.I814I|NAV2_ENST00000360655.4_Silent_p.I750I	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	837					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCAGGTTCATCAACACTGAGT	0.622																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(2440-2442)atC>atT		neuron navigator 2							91.0	83.0	86.0					11																	19970423		2199	4293	6492	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:19970423C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2511C>T	11.37:g.19970423C>T			Somatic				NAV2_ENST00000349880.4_Silent_p.I814I|NAV2_ENST00000527559.2_Silent_p.I766I|NAV2_ENST00000396087.3_Silent_p.I837I|NAV2_ENST00000540292.1_Silent_p.I768I|NAV2_ENST00000360655.4_Silent_p.I750I	p.I814I	NM_182964.5	NP_892009.3	WXS	Illumina GAIIx	Phase_I	Q8IVL1	NAV2_HUMAN			10	2803	+			837					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.2442C>T	CCDS58126.1																																																																																				0.622	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		25	323	0	0	0	1	0	25	323				
RASSF8	11228	broad.mit.edu	37	12	26220646	26220646	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:26220646G>A	ENST00000405154.2	+	4	1337	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	RASSF8_ENST00000282884.9_Splice_Site_p.E380K|RASSF8_ENST00000542865.1_Splice_Site_p.E380K|RASSF8_ENST00000541490.1_Splice_Site_p.E380K|RASSF8_ENST00000381352.3_Splice_Site_p.G380R	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	380					signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					CATTGAAAGGGGTAAGATGTT	0.408																																						ENST00000405154.2																			0				cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25						c.e4+1		Ras association (RalGDS/AF-6) domain family (N-terminal) member 8							113.0	110.0	111.0					12																	26220646		2203	4300	6503	SO:0001630	splice_region_variant	11228				signal transduction			g.chr12:26220646G>A	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.1138+1G>A	12.37:g.26220646G>A			Somatic				RASSF8_ENST00000541490.1_Splice_Site_p.E380_splice|RASSF8_ENST00000282884.9_Splice_Site_p.E380_splice|RASSF8_ENST00000381352.3_Splice_Site_p.G380_splice|RASSF8_ENST00000542865.1_Splice_Site_p.E380_splice	p.E380_splice	NM_001164748.1	NP_001158220.1	WXS	Illumina GAIIx	Phase_I	Q8NHQ8	RASF8_HUMAN			4	1337	+	Colorectal(261;0.0847)		380					A8K1Z0|O95647|Q5SCI2|Q76KB6	Splice_Site	SNP	ENST00000405154.2	37	c.1138_splice	CCDS53765.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.92|10.92	1.487257|1.487257	0.26686|0.26686	.|.	.|.	ENSG00000123094|ENSG00000123094	ENST00000405154;ENST00000542865;ENST00000541490;ENST00000282884|ENST00000381352	T;T;T;T|T	0.31247|0.29917	1.5;1.5;1.5;1.5|1.55	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	0.275958|.	0.33980|.	N|.	0.004363|.	T|T	0.19685|0.19685	0.0473|0.0473	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	P|P	0.47409|0.47484	0.895|0.896	B|B	0.34873|0.31245	0.191|0.126	T|T	0.06250|0.06250	-1.0837|-1.0837	10|9	0.21540|0.14656	T|T	0.41|0.56	-7.4224|-7.4224	12.9793|12.9793	0.58554|0.58554	0.0:0.0:0.8386:0.1614|0.0:0.0:0.8386:0.1614	.|.	380|380	Q8NHQ8|Q8NHQ8-2	RASF8_HUMAN|.	K|R	380|380	ENSP00000384491:E380K;ENSP00000439839:E380K;ENSP00000443096:E380K;ENSP00000282884:E380K|ENSP00000370756:G380R	ENSP00000282884:E380K|ENSP00000370756:G380R	E|G	+|+	1|1	0|0	RASSF8|RASSF8	26111913|26111913	1.000000|1.000000	0.71417|0.71417	0.859000|0.859000	0.33776|0.33776	0.058000|0.058000	0.15608|0.15608	7.678000|7.678000	0.84035|0.84035	2.573000|2.573000	0.86826|0.86826	0.655000|0.655000	0.94253|0.94253	GAG|GGG		0.408	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211	Missense_Mutation	7	262	0	0	0	1	0	7	262				
HOXC6	3223	broad.mit.edu	37	12	54422672	54422672	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:54422672T>C	ENST00000243108.4	+	1	531	c.367T>C	c.(367-369)Tac>Cac	p.Y123H	HOXC4_ENST00000303406.4_Intron|RP11-834C11.14_ENST00000512206.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC6_ENST00000394331.3_Missense_Mutation_p.Y41H	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	123					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.Y123H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TATCCAGATTTACCCCTGGAT	0.468																																						ENST00000394331.3																			1	Substitution - Missense(1)	p.Y123H(1)	kidney(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(121-123)Tac>Cac		homeobox C6							88.0	94.0	92.0					12																	54422672		2203	4300	6503	SO:0001583	missense	3223				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:54422672T>C		CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"""Homeoboxes / ANTP class : HOXL subclass"""	5128	protein-coding gene	gene with protein product		142972	"""homeo box C6"""	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.367T>C	12.37:g.54422672T>C	ENSP00000243108:p.Tyr123His		Somatic				HOXC5_ENST00000512206.1_Intron|HOXC4_ENST00000303406.4_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.Y123H	p.Y41H	NM_153693.3	NP_710160.1	WXS	Illumina GAIIx	Phase_I	P09630	HXC6_HUMAN			2	1831	+			123					B2RBV2|Q6DK09	Missense_Mutation	SNP	ENST00000243108.4	37	c.121T>C	CCDS8871.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.544368	0.65198	.	.	ENSG00000197757	ENST00000504315;ENST00000509328;ENST00000394331;ENST00000243108	D;D	0.95622	-3.76;-3.76	5.53	5.53	0.82687	Homeobox protein, antennapedia type, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.98982	1.0805	10	0.87932	D	0	.	14.7802	0.69760	0.0:0.0:0.0:1.0	.	123	P09630	HXC6_HUMAN	H	41;41;41;123	ENSP00000377864:Y41H;ENSP00000243108:Y123H	ENSP00000243108:Y123H	Y	+	1	0	HOXC6	52708939	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.441000	0.80485	2.324000	0.78689	0.533000	0.62120	TAC		0.468	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358943.2			48	102	0	0	0	1	0	48	102				
ZNF436	80818	broad.mit.edu	37	1	23697662	23697662	+	5'Flank	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:23697662G>T	ENST00000314011.4	-	0	0				ZNF436_ENST00000374608.3_5'Flank|C1orf213_ENST00000454117.1_Nonsense_Mutation_p.G83*|C1orf213_ENST00000458053.1_3'UTR|C1orf213_ENST00000518821.1_Nonsense_Mutation_p.G20*|C1orf213_ENST00000335648.3_3'UTR|C1orf213_ENST00000437367.2_Nonsense_Mutation_p.G83*|Y_RNA_ENST00000364535.1_RNA	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GTGGCGCCCAGGACGACTCCC	0.577																																						ENST00000454117.1																			0				kidney(1)	1						c.(247-249)Gga>Tga									34.0	37.0	36.0					1																	23697662		1885	4092	5977	SO:0001631	upstream_gene_variant	148898							g.chr1:23697662G>T	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232		1.37:g.23697662G>T	Exception_encountered		Somatic				C1orf213_ENST00000437367.2_Nonsense_Mutation_p.G83*|C1orf213_ENST00000335648.3_3'UTR|C1orf213_ENST00000518821.1_Nonsense_Mutation_p.G20*|C1orf213_ENST00000458053.1_3'UTR	p.G83*			WXS	Illumina GAIIx	Phase_I				UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	2	327	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)						Q658I9	Nonsense_Mutation	SNP	ENST00000314011.4	37	c.247G>T	CCDS233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.074162|4.074162	0.76415|0.76415	.|.	.|.	ENSG00000249087|ENSG00000249087	ENST00000454117;ENST00000518821;ENST00000437367|ENST00000518600	.|.	.|.	.|.	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71031	.|0.3292	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70339	.|-0.4899	.|4	0.87932|.	D|.	0|.	.|.	15.6736|15.6736	0.77297|0.77297	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|M	83;20;83|9	.|.	ENSP00000428038:G83X|.	G|R	+|+	1|2	0|0	C1orf213|C1orf213	23570249|23570249	0.974000|0.974000	0.33945|0.33945	0.874000|0.874000	0.34290|0.34290	0.105000|0.105000	0.19272|0.19272	1.302000|1.302000	0.33459|0.33459	2.460000|2.460000	0.83146|0.83146	0.591000|0.591000	0.81541|0.81541	GGA|AGG		0.577	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		4	4	1	0	3.59834e-05	1	3.71412e-05	4	4				
MUC16	94025	broad.mit.edu	37	19	9073804	9073804	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:9073804C>T	ENST00000397910.4	-	3	13845	c.13642G>A	c.(13642-13644)Gca>Aca	p.A4548T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4550	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTACATGTGCTGAACTGGCA	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(13642-13644)Gca>Aca		mucin 16, cell surface associated							129.0	127.0	128.0					19																	9073804		2094	4192	6286	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073804C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13642G>A	19.37:g.9073804C>T	ENSP00000381008:p.Ala4548Thr		Somatic					p.A4548T	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	13845	-			4550			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13642G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.643	0.119494	0.08881	.	.	ENSG00000181143	ENST00000397910	T	0.22743	1.94	1.43	0.308	0.15815	.	.	.	.	.	T	0.09992	0.0245	L	0.29908	0.895	.	.	.	P	0.50710	0.938	B	0.31751	0.135	T	0.23833	-1.0177	8	0.87932	D	0	.	4.0493	0.09788	0.0:0.762:0.0:0.238	.	4548	B5ME49	.	T	4548	ENSP00000381008:A4548T	ENSP00000381008:A4548T	A	-	1	0	MUC16	8934804	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.536000	0.23129	0.136000	0.18733	0.205000	0.17691	GCA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	442	0	0	0	1	0	5	442				
ZNF578	147660	broad.mit.edu	37	19	53014190	53014190	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:53014190G>A	ENST00000421239.2	+	6	800	c.556G>A	c.(556-558)Gat>Aat	p.D186N	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GTCTGTCAACGATGCTTCCTC	0.368																																						ENST00000421239.2																			0											c.(556-558)Gat>Aat		zinc finger protein 578							85.0	89.0	88.0					19																	53014190		2199	4299	6498	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014190G>A	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.556G>A	19.37:g.53014190G>A	ENSP00000459216:p.Asp186Asn		Somatic					p.D186N	NM_001099694.1	NP_001093164.1	WXS	Illumina GAIIx	Phase_I	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	800	+			101					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.556G>A	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	0.236	-1.017370	0.02078	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.42	-2.05	0.07321	.	.	.	.	.	T	0.25269	0.0614	N	0.10760	0.04	0.09310	N	1	D	0.76494	0.999	D	0.77557	0.99	T	0.17289	-1.0374	7	.	.	.	.	3.3444	0.07129	0.4378:0.2185:0.3437:0.0	.	186	G3V4F6	.	N	186	.	.	D	+	1	0	ZNF578	57706002	0.000000	0.05858	0.038000	0.18304	0.542000	0.35054	0.117000	0.15583	-0.120000	0.11809	0.134000	0.15878	GAT		0.368	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		11	199	0	0	0	1	0	11	199				
TMPRSS15	5651	broad.mit.edu	37	21	19666661	19666661	+	Silent	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr21:19666661A>G	ENST00000284885.3	-	21	2445	c.2412T>C	c.(2410-2412)taT>taC	p.Y804Y		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	804	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Y804Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GTCGGCCGCCATAATACAGAC	0.557																																						ENST00000284885.3																			1	Substitution - coding silent(1)	p.Y804Y(1)	kidney(1)	NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2410-2412)taT>taC		transmembrane protease, serine 15							94.0	101.0	98.0					21																	19666661		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19666661A>G		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2412T>C	21.37:g.19666661A>G			Somatic					p.Y804Y	NM_002772.2	NP_002763.2	WXS	Illumina GAIIx	Phase_I	P98073	ENTK_HUMAN			21	2445	-			804			Peptidase S1.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.2412T>C	CCDS13571.1																																																																																				0.557	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		18	115	0	0	0	1	0	18	115				
BSCL2	26580	broad.mit.edu	37	11	62457917	62457917	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:62457917G>A	ENST00000403550.1	-	11	1542	c.1119C>T	c.(1117-1119)gcC>gcT	p.A373A	BSCL2_ENST00000433053.1_Silent_p.A437A|BSCL2_ENST00000421906.1_Silent_p.A373A|BSCL2_ENST00000360796.5_Silent_p.A437A|LRRN4CL_ENST00000317449.4_5'Flank|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000278893.7_3'UTR|BSCL2_ENST00000407022.3_Silent_p.A373A|BSCL2_ENST00000405837.1_Silent_p.A439A			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	373					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CTAGGACAGGGGCAGAAGCAG	0.597																																						ENST00000433053.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						c.(1309-1311)gcC>gcT		Berardinelli-Seip congenital lipodystrophy 2 (seipin)							46.0	45.0	46.0					11																	62457917		2202	4299	6501	SO:0001819	synonymous_variant	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62457917G>A		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.1119C>T	11.37:g.62457917G>A			Somatic				BSCL2_ENST00000360796.5_Silent_p.A437A|BSCL2_ENST00000403550.1_Silent_p.A373A|BSCL2_ENST00000407022.3_Silent_p.A373A|BSCL2_ENST00000278893.7_3'UTR|BSCL2_ENST00000405837.1_Silent_p.A439A|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000421906.1_Silent_p.A373A	p.A437A			WXS	Illumina GAIIx	Phase_I	Q96G97	BSCL2_HUMAN			12	1867	-			373					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Silent	SNP	ENST00000403550.1	37	c.1311C>T	CCDS8031.1																																																																																				0.597	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		8	84	0	0	0	1	0	8	84				
INPP5D	3635	broad.mit.edu	37	2	234072505	234072505	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:234072505C>T	ENST00000359570.5	+	14	1357	c.1357C>T	c.(1357-1359)Ctc>Ttc	p.L453F	INPP5D_ENST00000450745.1_Missense_Mutation_p.L217F|INPP5D_ENST00000538935.1_Missense_Mutation_p.L452F|INPP5D_ENST00000455936.2_Missense_Mutation_p.L217F			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	465					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCTGGAGATCCTCAAACACTC	0.557																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(1357-1359)Ctc>Ttc		inositol polyphosphate-5-phosphatase, 145kDa							68.0	71.0	70.0					2																	234072505		2009	4161	6170	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234072505C>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1357C>T	2.37:g.234072505C>T	ENSP00000352575:p.Leu453Phe		Somatic				INPP5D_ENST00000538935.1_Missense_Mutation_p.L452F|INPP5D_ENST00000450745.1_Missense_Mutation_p.L217F|INPP5D_ENST00000455936.2_Missense_Mutation_p.L217F	p.L453F			WXS	Illumina GAIIx	Phase_I	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	14	1357	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	465					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.1357C>T		.	.	.	.	.	.	.	.	.	.	C	19.59	3.856654	0.71834	.	.	ENSG00000168918	ENST00000359570;ENST00000538935;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91;-3.91;-3.91;-3.91	5.08	5.08	0.68730	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.200738	0.43919	D	0.000506	D	0.96667	0.8912	.	.	.	0.38000	D	0.934199	P;P	0.51240	0.904;0.943	B;P	0.52758	0.315;0.708	D	0.98487	1.0608	9	0.87932	D	0	.	18.6649	0.91486	0.0:1.0:0.0:0.0	.	464;465	Q92835-2;Q92835	.;SHIP1_HUMAN	F	453;452;217;217;86;86;86	ENSP00000352575:L453F;ENSP00000441010:L452F;ENSP00000407916:L217F;ENSP00000404610:L217F;ENSP00000400151:L86F;ENSP00000397421:L86F;ENSP00000405338:L86F	ENSP00000352575:L453F	L	+	1	0	INPP5D	233736577	0.991000	0.36638	0.980000	0.43619	0.999000	0.98932	2.684000	0.46951	2.652000	0.90054	0.655000	0.94253	CTC		0.557	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		5	221	0	0	0	1	0	5	221				
SETD7	80854	broad.mit.edu	37	4	140444560	140444560	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:140444560A>G	ENST00000274031.3	-	5	1228	c.592T>C	c.(592-594)Tca>Cca	p.S198P	SETD7_ENST00000506866.2_Missense_Mutation_p.S198P	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	198					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					ATGCAAGATGAAGTCGACTTA	0.363																																						ENST00000274031.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(592-594)Tca>Cca		SET domain containing (lysine methyltransferase) 7							133.0	136.0	135.0					4																	140444560		2203	4300	6503	SO:0001583	missense	80854				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding	g.chr4:140444560A>G	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.592T>C	4.37:g.140444560A>G	ENSP00000274031:p.Ser198Pro		Somatic				SETD7_ENST00000506866.2_Missense_Mutation_p.S198P	p.S198P	NM_030648.2	NP_085151.1	WXS	Illumina GAIIx	Phase_I	Q8WTS6	SETD7_HUMAN			5	1228	-	all_hematologic(180;0.156)		198					B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Missense_Mutation	SNP	ENST00000274031.3	37	c.592T>C	CCDS3748.1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.603487	0.28534	.	.	ENSG00000145391	ENST00000506866;ENST00000274031	D;D	0.85484	-1.99;-1.99	5.67	2.88	0.33553	.	0.178722	0.51477	D	0.000088	T	0.65491	0.2696	N	0.04880	-0.145	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55062	-0.8199	10	0.25106	T	0.35	-4.553	6.7277	0.23365	0.7232:0.1372:0.1397:0.0	.	198	Q8WTS6	SETD7_HUMAN	P	198	ENSP00000427300:S198P;ENSP00000274031:S198P	ENSP00000274031:S198P	S	-	1	0	SETD7	140664010	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	4.365000	0.59486	0.951000	0.37770	0.533000	0.62120	TCA		0.363	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648		3	298	0	0	0	1	0	3	298				
IRF9	10379	broad.mit.edu	37	14	24633309	24633309	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:24633309G>A	ENST00000396864.3	+	6	902	c.615G>A	c.(613-615)caG>caA	p.Q205Q	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Silent_p.Q103Q	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	205					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AAGGGGATCAGAGGTCCCTGG	0.557																																						ENST00000396864.3																			0				NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(613-615)caG>caA		interferon regulatory factor 9							173.0	157.0	162.0					14																	24633309		2203	4300	6503	SO:0001819	synonymous_variant	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24633309G>A	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.615G>A	14.37:g.24633309G>A			Somatic				IRF9_ENST00000557894.1_Silent_p.Q103Q|RP11-468E2.4_ENST00000558468.1_3'UTR	p.Q205Q	NM_006084.4	NP_006075.3	WXS	Illumina GAIIx	Phase_I	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	6	902	+			205					D3DS61	Silent	SNP	ENST00000396864.3	37	c.615G>A	CCDS9615.1																																																																																				0.557	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			216	455	0	0	0	1	0	216	455				
TCF12	6938	broad.mit.edu	37	15	57355950	57355950	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:57355950A>T	ENST00000267811.5	+	4	455	c.151A>T	c.(151-153)Att>Ttt	p.I51F	TCF12_ENST00000438423.2_Missense_Mutation_p.I51F|TCF12_ENST00000557843.1_Missense_Mutation_p.I51F|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000333725.5_Missense_Mutation_p.I51F	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	51					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CTTTTTAGGTATTGATGAAAG	0.353			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(151-153)Att>Ttt		transcription factor 12							131.0	131.0	131.0					15																	57355950		2192	4292	6484	SO:0001583	missense	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57355950A>T	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.151A>T	15.37:g.57355950A>T	ENSP00000267811:p.Ile51Phe		Somatic				TCF12_ENST00000557843.1_Missense_Mutation_p.I51F|TCF12_ENST00000333725.5_Missense_Mutation_p.I51F|TCF12_ENST00000438423.2_Missense_Mutation_p.I51F|TCF12_ENST00000452095.2_Intron	p.I51F	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	WXS	Illumina GAIIx	Phase_I	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	4	455	+		Colorectal(260;0.0907)	51					Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	c.151A>T	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021383	0.54576	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000333725	T;T;T	0.14640	2.49;2.5;2.5	5.8	5.8	0.92144	.	0.129845	0.64402	D	0.000002	T	0.12305	0.0299	L	0.29908	0.895	0.80722	D	1	B;B;B	0.19583	0.018;0.037;0.018	B;B;B	0.16289	0.015;0.004;0.01	T	0.03587	-1.1022	10	0.62326	D	0.03	-0.4423	13.9021	0.63812	1.0:0.0:0.0:0.0	.	103;51;51	F5H6Z6;Q99081;Q99081-3	.;HTF4_HUMAN;.	F	103;51;51;51	ENSP00000267811:I51F;ENSP00000388940:I51F;ENSP00000331057:I51F	ENSP00000267811:I51F	I	+	1	0	TCF12	55143242	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.011000	0.57124	2.213000	0.71641	0.477000	0.44152	ATT		0.353	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		5	279	0	0	0	1	0	5	279				
E2F7	144455	broad.mit.edu	37	12	77417920	77417920	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:77417920C>T	ENST00000322886.7	-	13	2846	c.2611G>A	c.(2611-2613)Gag>Aag	p.E871K	E2F7_ENST00000416496.2_Silent_p.*729*	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	871					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AAAAACGTCTCACGATGTGTG	0.478																																						ENST00000322886.7																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(2611-2613)Gag>Aag		E2F transcription factor 7							96.0	88.0	91.0					12																	77417920		2203	4300	6503	SO:0001583	missense	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77417920C>T	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.2611G>A	12.37:g.77417920C>T	ENSP00000323246:p.Glu871Lys		Somatic				E2F7_ENST00000416496.2_Silent_p.*729*	p.E871K	NM_203394.2	NP_976328.2	WXS	Illumina GAIIx	Phase_I	Q96AV8	E2F7_HUMAN			13	2846	-			871					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	c.2611G>A	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672182	0.67928	.	.	ENSG00000165891	ENST00000322886;ENST00000339887	T	0.19938	2.11	6.17	6.17	0.99709	.	0.299068	0.32819	N	0.005601	T	0.36524	0.0970	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.01309	-1.1389	10	0.45353	T	0.12	-20.2588	18.0354	0.89301	0.0:1.0:0.0:0.0	.	871	Q96AV8	E2F7_HUMAN	K	871;342	ENSP00000323246:E871K	ENSP00000323246:E871K	E	-	1	0	E2F7	75942051	0.998000	0.40836	0.831000	0.32960	0.033000	0.12548	4.770000	0.62309	2.941000	0.99782	0.655000	0.94253	GAG		0.478	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		29	108	0	0	0	1	0	29	108				
ALOX12B	242	broad.mit.edu	37	17	7990740	7990740	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:7990740C>T	ENST00000319144.4	-	1	281	c.21G>A	c.(19-21)agG>agA	p.R7R	MIR4314_ENST00000583321.1_RNA	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	7	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.R7R(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CTGTGGCCACCCTGACTTTGT	0.602										Multiple Myeloma(8;0.094)																												ENST00000319144.4																			1	Substitution - coding silent(1)	p.R7R(1)	kidney(1)	endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(19-21)agG>agA		arachidonate 12-lipoxygenase, 12R type							152.0	121.0	132.0					17																	7990740		2203	4300	6503	SO:0001819	synonymous_variant	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7990740C>T	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.21G>A	17.37:g.7990740C>T		Multiple Myeloma(8;0.094)	Somatic					p.R7R	NM_001139.2	NP_001130.1	WXS	Illumina GAIIx	Phase_I	O75342	LX12B_HUMAN			1	281	-			7			PLAT.			Silent	SNP	ENST00000319144.4	37	c.21G>A	CCDS11129.1																																																																																				0.602	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			48	55	0	0	0	1	0	48	55				
AP2A1	160	broad.mit.edu	37	19	50303388	50303388	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:50303388C>T	ENST00000359032.5	+	11	1436	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V	AP2A1_ENST00000354293.5_Missense_Mutation_p.A479V	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	479					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.A479G(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CAGGGCTATGCCGCCAAGACC	0.612																																						ENST00000354293.5																			2	Substitution - Missense(2)	p.A479G(2)	lung(2)	cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19						c.(1435-1437)gCc>gTc		adaptor-related protein complex 2, alpha 1 subunit							70.0	78.0	75.0					19																	50303388		2149	4241	6390	SO:0001583	missense	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50303388C>T	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1436C>T	19.37:g.50303388C>T	ENSP00000351926:p.Ala479Val		Somatic				AP2A1_ENST00000359032.5_Missense_Mutation_p.A479V	p.A479V	NM_130787.2	NP_570603.2	WXS	Illumina GAIIx	Phase_I	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	11	1602	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	479					Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	37	c.1436C>T	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733133	0.89482	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.38560	1.13;1.13	4.65	4.65	0.58169	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.70716	0.916;0.97	T	0.74414	-0.3673	10	0.72032	D	0.01	.	16.4522	0.83994	0.0:1.0:0.0:0.0	.	479;479	O95782-2;O95782	.;AP2A1_HUMAN	V	479	ENSP00000346246:A479V;ENSP00000351926:A479V	ENSP00000346246:A479V	A	+	2	0	AP2A1	54995200	1.000000	0.71417	0.640000	0.29408	0.866000	0.49608	7.582000	0.82546	2.400000	0.81607	0.462000	0.41574	GCC		0.612	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			3	75	0	0	0	1	0	3	75				
TMCC3	57458	broad.mit.edu	37	12	94965355	94965355	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:94965355G>A	ENST00000261226.4	-	4	1421	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S	TMCC3_ENST00000551457.1_Silent_p.S399S	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	430						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TCGCGATGGTGGACACACACA	0.493																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(1288-1290)tcC>tcT		transmembrane and coiled-coil domain family 3							250.0	226.0	234.0					12																	94965355		2203	4300	6503	SO:0001819	synonymous_variant	57458					integral to membrane		g.chr12:94965355G>A	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1290C>T	12.37:g.94965355G>A			Somatic				TMCC3_ENST00000551457.1_Silent_p.S399S	p.S430S	NM_020698.2	NP_065749.2	WXS	Illumina GAIIx	Phase_I	Q9ULS5	TMCC3_HUMAN			4	1421	-			430					Q8IWB2	Silent	SNP	ENST00000261226.4	37	c.1290C>T	CCDS31877.1																																																																																				0.493	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		140	767	0	0	0	1	0	140	767				
COBLL1	22837	broad.mit.edu	37	2	165551753	165551753	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:165551753G>A	ENST00000392717.2	-	13	2381	c.2377C>T	c.(2377-2379)Cct>Tct	p.P793S	COBLL1_ENST00000342193.4_Missense_Mutation_p.P755S|COBLL1_ENST00000194871.6_Missense_Mutation_p.P822S|COBLL1_ENST00000375458.2_Missense_Mutation_p.P717S|COBLL1_ENST00000409184.3_Missense_Mutation_p.P755S			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	793						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCATTTGAAGGTTTTGGCTTG	0.373																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2149-2151)Cct>Tct		cordon-bleu WH2 repeat protein-like 1							193.0	195.0	194.0					2																	165551753		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551753G>A	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2377C>T	2.37:g.165551753G>A	ENSP00000376478:p.Pro793Ser		Somatic				COBLL1_ENST00000342193.4_Missense_Mutation_p.P755S|COBLL1_ENST00000194871.6_Missense_Mutation_p.P822S|COBLL1_ENST00000392717.2_Missense_Mutation_p.P793S|COBLL1_ENST00000409184.3_Missense_Mutation_p.P755S	p.P717S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	WXS	Illumina GAIIx	Phase_I	Q53SF7	COBL1_HUMAN			11	2370	-			793					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2149C>T		.	.	.	.	.	.	.	.	.	.	G	24.4	4.530086	0.85706	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000001	T	0.78521	0.4296	L	0.59436	1.845	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.77918	-0.2408	9	0.72032	D	0.01	-17.9406	20.5752	0.99366	0.0:0.0:1.0:0.0	.	793;822;755	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	S	717;755;755;793;822	.	ENSP00000194871:P822S	P	-	1	0	COBLL1	165259999	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.416000	0.90244	2.868000	0.98415	0.557000	0.71058	CCT		0.373	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		4	239	0	0	0	1	0	4	239				
HLA-F	3134	broad.mit.edu	37	6	29693797	29693797	+	Missense_Mutation	SNP	G	G	A	rs377232421		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:29693797G>A	ENST00000376861.1	+	7	1397	c.1013G>A	c.(1012-1014)aGa>aAa	p.R338K	HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000334668.4_Missense_Mutation_p.R338K|HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000434407.2_Missense_Mutation_p.R246K|HLA-F_ENST00000259951.7_Missense_Mutation_p.R338K			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	338					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GATAGAAACAGAGGGAGCTAC	0.517																																						ENST00000376861.1																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(1012-1014)aGa>aAa		major histocompatibility complex, class I, F							69.0	73.0	72.0					6																	29693797		2203	4300	6503	SO:0001583	missense	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29693797G>A	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.1013G>A	6.37:g.29693797G>A	ENSP00000366057:p.Arg338Lys		Somatic				HLA-F_ENST00000434407.2_Missense_Mutation_p.R246K|HLA-F_ENST00000334668.4_Missense_Mutation_p.R338K|HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.R338K|HLA-F_ENST00000475996.1_Intron	p.R338K			WXS	Illumina GAIIx	Phase_I	P30511	HLAF_HUMAN			7	1397	+			338					Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.1013G>A	CCDS43438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	9.764|9.764	1.170952|1.170952	0.21621|0.21621	.|.	.|.	ENSG00000204642|ENSG00000204642	ENST00000429294;ENST00000444621|ENST00000376861;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000399258;ENST00000434407	.|T;T;T;T	.|0.00653	.|5.96;5.96;6.0;6.07	1.92|1.92	0.806|0.806	0.18708|0.18708	.|.	.|.	.|.	.|.	.|.	T|T	0.00271|0.00271	0.0008|0.0008	L|L	0.47190|0.47190	1.495|1.495	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.33379	.|0.41;0.013;0.023;0.072	.|B;B;B;B	.|0.29598	.|0.104;0.005;0.01;0.01	T|T	0.44081|0.44081	-0.9351|-0.9351	5|9	.|0.72032	.|D	.|0.01	.|.	4.7941|4.7941	0.13263|0.13263	0.0:0.0:0.6365:0.3635|0.0:0.0:0.6365:0.3635	.|.	.|338;338;338;246	.|A8MVU7;P30511;P30511-3;P30511-2	.|.;HLAF_HUMAN;.;.	K|K	217;20|338;315;338;338;252;246	.|ENSP00000366057:R338K;ENSP00000334263:R338K;ENSP00000259951:R338K;ENSP00000397376:R246K	.|ENSP00000259951:R338K	E|R	+|+	1|2	0|0	HLA-F|HLA-F	29801776|29801776	0.002000|0.002000	0.14202|0.14202	0.005000|0.005000	0.12908|0.12908	0.034000|0.034000	0.12701|0.12701	0.686000|0.686000	0.25392|0.25392	1.046000|1.046000	0.40249|0.40249	0.436000|0.436000	0.28706|0.28706	GAG|AGA		0.517	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		12	158	0	0	0	1	0	12	158				
ZGRF1	55345	broad.mit.edu	37	4	113540573	113540573	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:113540573C>T	ENST00000505019.1	-	6	750	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	C4orf21_ENST00000309071.5_Missense_Mutation_p.E209K|C4orf21_ENST00000445203.2_Missense_Mutation_p.E178K	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		209						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TAATTTTCTTCACACAGCACT	0.398																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(625-627)Gaa>Aaa		chromosome 4 open reading frame 21							42.0	46.0	45.0					4																	113540573		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113540573C>T																												ENST00000505019.1:c.625G>A	4.37:g.113540573C>T	ENSP00000424737:p.Glu209Lys		Somatic				C4orf21_ENST00000309071.5_Missense_Mutation_p.E209K|C4orf21_ENST00000445203.2_Missense_Mutation_p.E178K	p.E209K	NM_018392.4	NP_060862.3	WXS	Illumina GAIIx	Phase_I	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	750	-		Ovarian(17;0.156)	209					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.625G>A		.	.	.	.	.	.	.	.	.	.	C	13.62	2.292661	0.40594	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.83075	-1.68;1.82;1.41	5.17	4.31	0.51392	.	0.696409	0.13520	N	0.381752	T	0.72724	0.3496	L	0.43757	1.38	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.12156	0.006;0.007	T	0.56329	-0.7997	10	0.18710	T	0.47	-1.4228	4.138	0.10179	0.1858:0.6112:0.0:0.203	.	209;209	Q86YA3;G5EA02	CD021_HUMAN;.	K	209;209;178	ENSP00000424737:E209K;ENSP00000309095:E209K;ENSP00000390505:E178K	ENSP00000309095:E209K	E	-	1	0	C4orf21	113760022	0.000000	0.05858	0.020000	0.16555	0.467000	0.32768	0.094000	0.15107	1.138000	0.42230	0.591000	0.81541	GAA		0.398	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			3	32	0	0	0	1	0	3	32				
HDAC1	3065	broad.mit.edu	37	1	32796451	32796451	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:32796451C>T	ENST00000373548.3	+	9	1005	c.921C>T	c.(919-921)aaC>aaT	p.N307N	HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Silent_p.N114N	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	307	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.N307N(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	CCATTCGTAACGTTGCCCGGT	0.567																																						ENST00000373548.3																			1	Substitution - coding silent(1)	p.N307N(1)	kidney(1)	NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(919-921)aaC>aaT		histone deacetylase 1	Vorinostat(DB02546)						149.0	123.0	132.0					1																	32796451		2203	4300	6503	SO:0001819	synonymous_variant	3065				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity	g.chr1:32796451C>T	D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.921C>T	1.37:g.32796451C>T			Somatic				HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Silent_p.N114N	p.N307N	NM_004964.2	NP_004955.2	WXS	Illumina GAIIx	Phase_I	Q13547	HDAC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	9	1005	+		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)	307			Histone deacetylase.		Q92534	Silent	SNP	ENST00000373548.3	37	c.921C>T	CCDS360.1																																																																																				0.567	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019815.3	NM_004964		64	138	0	0	0	1	0	64	138				
ZGRF1	55345	broad.mit.edu	37	4	113540507	113540507	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:113540507C>T	ENST00000505019.1	-	6	816	c.691G>A	c.(691-693)Gag>Aag	p.E231K	C4orf21_ENST00000309071.5_Missense_Mutation_p.E231K|C4orf21_ENST00000445203.2_Missense_Mutation_p.E200K	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		231						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTCACAGGCTCATTGGTCAGT	0.393																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(691-693)Gag>Aag		chromosome 4 open reading frame 21							63.0	65.0	64.0					4																	113540507		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113540507C>T																												ENST00000505019.1:c.691G>A	4.37:g.113540507C>T	ENSP00000424737:p.Glu231Lys		Somatic				C4orf21_ENST00000309071.5_Missense_Mutation_p.E231K|C4orf21_ENST00000445203.2_Missense_Mutation_p.E200K	p.E231K	NM_018392.4	NP_060862.3	WXS	Illumina GAIIx	Phase_I	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	816	-		Ovarian(17;0.156)	231					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.691G>A		.	.	.	.	.	.	.	.	.	.	C	14.67	2.604633	0.46423	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.84730	-1.89;1.62;1.22	4.77	2.78	0.32641	.	0.378699	0.22080	N	0.064912	T	0.81903	0.4921	M	0.67953	2.075	0.09310	N	1	B;B	0.17038	0.02;0.008	B;B	0.15870	0.014;0.009	T	0.72909	-0.4149	10	0.46703	T	0.11	-3.7491	10.4544	0.44542	0.0:0.8276:0.0:0.1724	.	231;231	Q86YA3;G5EA02	CD021_HUMAN;.	K	231;231;200	ENSP00000424737:E231K;ENSP00000309095:E231K;ENSP00000390505:E200K	ENSP00000309095:E231K	E	-	1	0	C4orf21	113759956	0.002000	0.14202	0.011000	0.14972	0.159000	0.22180	1.349000	0.33998	0.968000	0.38212	0.591000	0.81541	GAG		0.393	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			6	70	0	0	0	1	0	6	70				
TBC1D2B	23102	broad.mit.edu	37	15	78316739	78316739	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:78316739C>T	ENST00000300584.3	-	6	1228	c.1229G>A	c.(1228-1230)aGc>aAc	p.S410N	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.S410N	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	410							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CTCCAGCTGGCTGGTAAGGCC	0.542																																						ENST00000409931.3																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1228-1230)aGc>aAc		TBC1 domain family, member 2B							156.0	154.0	155.0					15																	78316739		2196	4293	6489	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78316739C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1229G>A	15.37:g.78316739C>T	ENSP00000300584:p.Ser410Asn		Somatic				TBC1D2B_ENST00000300584.3_Missense_Mutation_p.S410N	p.S410N			WXS	Illumina GAIIx	Phase_I	Q9UPU7	TBD2B_HUMAN			6	1300	-			410					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.1229G>A	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.29|11.29	1.595803|1.595803	0.28445|0.28445	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039|ENST00000409931;ENST00000300584	.|T;T	.|0.08370	.|3.1;3.1	5.7|5.7	3.84|3.84	0.44239|0.44239	.|.	.|0.391798	.|0.33438	.|N	.|0.004906	T|T	0.04679|0.04679	0.0127|0.0127	N|N	0.17474|0.17474	0.49|0.49	0.21355|0.21355	N|N	0.999715|0.999715	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.43410|0.43410	-0.9393|-0.9393	5|10	.|0.17832	.|T	.|0.49	.|.	7.3286|7.3286	0.26569|0.26569	0.0:0.6666:0.0:0.3334|0.0:0.6666:0.0:0.3334	.|.	.|410;410	.|Q9UPU7-2;Q9UPU7	.|.;TBD2B_HUMAN	T|N	292|410	.|ENSP00000387165:S410N;ENSP00000300584:S410N	.|ENSP00000300584:S410N	A|S	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76103794|76103794	1.000000|1.000000	0.71417|0.71417	0.473000|0.473000	0.27253|0.27253	0.990000|0.990000	0.78478|0.78478	2.804000|2.804000	0.47931|0.47931	0.768000|0.768000	0.33290|0.33290	0.491000|0.491000	0.48974|0.48974	GCC|AGC		0.542	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		98	656	0	0	0	1	0	98	656				
TXNDC15	79770	broad.mit.edu	37	5	134232036	134232036	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:134232036G>C	ENST00000358387.4	+	4	1433	c.808G>C	c.(808-810)Gga>Cga	p.G270R	TXNDC15_ENST00000546290.1_Missense_Mutation_p.G247R	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	270	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.G270R(1)|p.G270>?(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTATTTCAAGGAGCTAAACC	0.353																																						ENST00000358387.4																			2	Substitution - Missense(1)|Complex(1)	p.G270R(1)|p.G270>?(1)	kidney(2)	breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17						c.(808-810)Gga>Cga		thioredoxin domain containing 15							106.0	107.0	107.0					5																	134232036		2203	4300	6503	SO:0001583	missense	79770				cell redox homeostasis	integral to membrane		g.chr5:134232036G>C	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.808G>C	5.37:g.134232036G>C	ENSP00000351157:p.Gly270Arg		Somatic				TXNDC15_ENST00000546290.1_Missense_Mutation_p.G247R	p.G270R	NM_024715.3	NP_078991.3	WXS	Illumina GAIIx	Phase_I	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	1433	+			270			Thioredoxin.		D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	c.808G>C	CCDS4180.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	33|33|33	5.205556|5.205556|5.205556	0.95033|0.95033|0.95033	.|.|.	.|.|.	ENSG00000113621|ENSG00000113621|ENSG00000113621	ENST00000441965;ENST00000358387;ENST00000546290|ENST00000508779|ENST00000509954	T;T|.|.	0.23348|.|.	1.91;1.91|.|.	6.17|6.17|6.17	6.17|6.17|6.17	0.99709|0.99709|0.99709	Thioredoxin domain (1);Thioredoxin-like fold (3);|.|.	0.046839|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.78515|0.78515|0.78515	0.4295|0.4295|0.4295	M|M|M	0.75085|0.75085|0.75085	2.285|2.285|2.285	0.80722|0.80722|0.80722	D|D|D	1|1|1	D|.|.	0.89917|.|.	1.0|.|.	D|.|.	0.97110|.|.	1.0|.|.	T|T|T	0.75311|0.75311|0.75311	-0.3362|-0.3362|-0.3362	10|5|5	0.62326|.|.	D|.|.	0.03|.|.	-17.238|-17.238|-17.238	20.8794|20.8794|20.8794	0.99867|0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	270|.|.	Q96J42|.|.	TXD15_HUMAN|.|.	R|N|T	254;270;247|253|24	ENSP00000351157:G270R;ENSP00000443942:G247R|.|.	ENSP00000351157:G270R|.|.	G|K|R	+|+|+	1|3|2	0|2|0	TXNDC15|TXNDC15|TXNDC15	134259935|134259935|134259935	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	9.476000|9.476000|9.476000	0.97823|0.97823|0.97823	2.941000|2.941000|2.941000	0.99782|0.99782|0.99782	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGA|AAG|AGG		0.353	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		44	79	0	0	0	1	0	44	79				
ATP4A	495	broad.mit.edu	37	19	36047923	36047923	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:36047923C>T	ENST00000262623.3	-	12	1789	c.1761G>A	c.(1759-1761)atG>atA	p.M587I		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	587					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	ATGGAAAGTTCATGGCCTCTA	0.592																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(1759-1761)atG>atA		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						81.0	75.0	77.0					19																	36047923		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36047923C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1761G>A	19.37:g.36047923C>T	ENSP00000262623:p.Met587Ile		Somatic					p.M587I	NM_000704.2	NP_000695.2	WXS	Illumina GAIIx	Phase_I	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		12	1789	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		587					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.1761G>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032004	0.35893	.	.	ENSG00000105675	ENST00000262623	T	0.78364	-1.17	5.14	4.05	0.47172	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	N	0.02751	-0.505	0.43890	D	0.996515	B	0.20550	0.046	B	0.32928	0.155	T	0.55560	-0.8122	10	0.27785	T	0.31	.	12.9505	0.58399	0.1616:0.8384:0.0:0.0	.	587	P20648	ATP4A_HUMAN	I	587	ENSP00000262623:M587I	ENSP00000262623:M587I	M	-	3	0	ATP4A	40739763	0.997000	0.39634	1.000000	0.80357	0.643000	0.38383	0.545000	0.23268	2.672000	0.90937	0.591000	0.81541	ATG		0.592	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		12	276	0	0	0	1	0	12	276				
RAI2	10742	broad.mit.edu	37	X	17820079	17820079	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chrX:17820079G>A	ENST00000545871.1	-	3	512	c.52C>T	c.(52-54)Cct>Tct	p.P18S	RAI2_ENST00000331511.1_Missense_Mutation_p.P18S|RAI2_ENST00000451717.1_Missense_Mutation_p.P18S|RAI2_ENST00000415486.3_Missense_Mutation_p.P18S|RAI2_ENST00000360011.1_Missense_Mutation_p.P18S	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	18					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GCCAAGGCAGGAGGGGAGTCA	0.532																																						ENST00000545871.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(52-54)Cct>Tct		retinoic acid induced 2							145.0	135.0	139.0					X																	17820079		2203	4300	6503	SO:0001583	missense	10742				embryo development			g.chrX:17820079G>A	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.52C>T	X.37:g.17820079G>A	ENSP00000444210:p.Pro18Ser		Somatic				RAI2_ENST00000415486.3_Missense_Mutation_p.P18S|RAI2_ENST00000360011.1_Missense_Mutation_p.P18S|RAI2_ENST00000331511.1_Missense_Mutation_p.P18S|RAI2_ENST00000451717.1_Missense_Mutation_p.P18S|RP3-389A20.4_ENST00000509491.2_Missense_Mutation_p.P18S	p.P18S	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	WXS	Illumina GAIIx	Phase_I	Q9Y5P3	RAI2_HUMAN			3	512	-	Hepatocellular(33;0.183)		18					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	c.52C>T	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464952	0.26335	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.59	5.6	5.6	0.85130	.	0.231816	0.36167	N	0.002754	T	0.12135	0.0295	N	0.08118	0	0.21256	N	0.999746	B;B	0.20887	0.049;0.049	B;B	0.21151	0.033;0.033	T	0.34925	-0.9809	10	0.07644	T	0.81	-11.6364	4.7748	0.13173	0.2119:0.1742:0.6139:0.0	.	18;18	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	S	18	ENSP00000333456:P18S;ENSP00000353106:P18S;ENSP00000444210:P18S;ENSP00000401323:P18S;ENSP00000392578:P18S	ENSP00000333456:P18S	P	-	1	0	RAI2	17730000	1.000000	0.71417	0.897000	0.35233	0.861000	0.49209	3.299000	0.51826	2.362000	0.80069	0.529000	0.55759	CCT		0.532	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		44	853	0	0	0	1	0	44	853				
MIER1	57708	broad.mit.edu	37	1	67450321	67450321	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:67450321T>G	ENST00000355356.3	+	13	1426	c.1277T>G	c.(1276-1278)aTt>aGt	p.I426S	MIER1_ENST00000401042.3_Intron|MIER1_ENST00000371016.1_Intron|MIER1_ENST00000371018.3_Missense_Mutation_p.I443S|MIER1_ENST00000371014.1_Intron|MIER1_ENST00000357692.2_Missense_Mutation_p.I443S|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000401041.1_Missense_Mutation_p.I479S	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	426					positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.I479S(1)|p.I426S(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						GGGTTACACATTAATGGACCA	0.353																																						ENST00000357692.2																			2	Substitution - Missense(2)	p.I479S(1)|p.I426S(1)	kidney(2)	breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						c.(1327-1329)aTt>aGt		mesoderm induction early response 1, transcriptional regulator							115.0	109.0	111.0					1																	67450321		1839	4094	5933	SO:0001583	missense	57708				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr1:67450321T>G		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.1277T>G	1.37:g.67450321T>G	ENSP00000347514:p.Ile426Ser		Somatic				MIER1_ENST00000371014.1_Intron|MIER1_ENST00000401041.1_Missense_Mutation_p.I479S|MIER1_ENST00000371018.3_Missense_Mutation_p.I443S|MIER1_ENST00000401042.3_Intron|MIER1_ENST00000371016.1_Intron|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000355356.3_Missense_Mutation_p.I426S	p.I443S	NM_001146110.1	NP_001139582.1	WXS	Illumina GAIIx	Phase_I	Q8N108	MIER1_HUMAN			15	1585	+			450					C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	ENST00000355356.3	37	c.1328T>G	CCDS41348.1	.	.	.	.	.	.	.	.	.	.	T	8.935	0.964448	0.18583	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000357692;ENST00000401041;ENST00000355356	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.58	5.58	0.84498	.	0.790343	0.12580	N	0.456518	T	0.14874	0.0359	N	0.22421	0.69	0.36447	D	0.865831	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.001	T	0.02901	-1.1096	10	0.07030	T	0.85	-28.6393	11.9259	0.52819	0.0:0.0698:0.0:0.9302	.	443;426;450;443;479	Q32NC4;Q8N108-3;Q8N108;Q8N108-10;Q5TAD5	.;.;MIER1_HUMAN;.;.	S	447;443;443;479;426	ENSP00000360057:I443S;ENSP00000350321:I443S;ENSP00000383820:I479S;ENSP00000347514:I426S	ENSP00000347514:I426S	I	+	2	0	MIER1	67222909	0.003000	0.15002	0.195000	0.23364	0.823000	0.46562	1.424000	0.34848	2.248000	0.74166	0.528000	0.53228	ATT		0.353	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948		41	66	0	0	0	1	0	41	66				
LAMB1	3912	broad.mit.edu	37	7	107618592	107618592	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:107618592G>A	ENST00000222399.6	-	9	1130	c.900C>T	c.(898-900)tgC>tgT	p.C300C	LAMB1_ENST00000393561.1_Silent_p.C324C|LAMB1_ENST00000393560.1_Silent_p.C300C	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	300	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TGTTATGCCTGCACATGCAGT	0.418																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(970-972)tgC>tgT		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						149.0	142.0	145.0					7																	107618592		2203	4300	6503	SO:0001819	synonymous_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107618592G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.900C>T	7.37:g.107618592G>A			Somatic				LAMB1_ENST00000393560.1_Silent_p.C300C|LAMB1_ENST00000222399.6_Silent_p.C300C	p.C324C			WXS	Illumina GAIIx	Phase_I	P07942	LAMB1_HUMAN			7	1156	-			300			Laminin EGF-like 1.		Q14D91	Silent	SNP	ENST00000222399.6	37	c.972C>T	CCDS5750.1																																																																																				0.418	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		5	519	0	0	0	1	0	5	519				
PCDHGB3	56102	broad.mit.edu	37	5	140751901	140751901	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:140751901G>A	ENST00000576222.1	+	1	2071	c.1940G>A	c.(1939-1941)cGt>cAt	p.R647H	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	647	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACTGTGCGTGATGGAGGA	0.647																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1939-1941)cGt>cAt									46.0	52.0	50.0					5																	140751901		2115	4243	6358	SO:0001583	missense	56102							g.chr5:140751901G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1940G>A	5.37:g.140751901G>A	ENSP00000461862:p.Arg647His		Somatic				PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	p.R647H	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2071	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1940G>A	CCDS58980.1																																																																																				0.647	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		11	63	0	0	0	1	0	11	63				
INPP5D	3635	broad.mit.edu	37	2	234072504	234072504	+	Silent	SNP	C	C	T	rs567362809		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:234072504C>T	ENST00000359570.5	+	14	1356	c.1356C>T	c.(1354-1356)atC>atT	p.I452I	INPP5D_ENST00000450745.1_Silent_p.I216I|INPP5D_ENST00000538935.1_Silent_p.I451I|INPP5D_ENST00000455936.2_Silent_p.I216I			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	464					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GGCTGGAGATCCTCAAACACT	0.552																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(1354-1356)atC>atT		inositol polyphosphate-5-phosphatase, 145kDa							68.0	73.0	71.0					2																	234072504		2012	4162	6174	SO:0001819	synonymous_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234072504C>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1356C>T	2.37:g.234072504C>T			Somatic				INPP5D_ENST00000538935.1_Silent_p.I451I|INPP5D_ENST00000450745.1_Silent_p.I216I|INPP5D_ENST00000455936.2_Silent_p.I216I	p.I452I			WXS	Illumina GAIIx	Phase_I	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	14	1356	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	464					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	ENST00000359570.5	37	c.1356C>T																																																																																					0.552	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		5	222	0	0	0	1	0	5	222				
AHCY	191	broad.mit.edu	37	20	32879280	32879280	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:32879280A>G	ENST00000217426.2	-	5	580	c.503T>C	c.(502-504)aTg>aCg	p.M168T	AHCY_ENST00000538132.1_Missense_Mutation_p.M140T|AHCY_ENST00000468908.1_5'UTR	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	168					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCCATTGGCCATCATCTTGTA	0.572																																						ENST00000538132.1																			0				endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(418-420)aTg>aCg		adenosylhomocysteinase							168.0	147.0	154.0					20																	32879280		2203	4300	6503	SO:0001583	missense	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32879280A>G	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.503T>C	20.37:g.32879280A>G	ENSP00000217426:p.Met168Thr		Somatic				AHCY_ENST00000217426.2_Missense_Mutation_p.M168T|AHCY_ENST00000468908.1_5'UTR	p.M140T	NM_001161766.1	NP_001155238.1	WXS	Illumina GAIIx	Phase_I	P23526	SAHH_HUMAN			5	805	-			168					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	ENST00000217426.2	37	c.419T>C	CCDS13233.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.459995	0.43736	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	T;T	0.75589	-0.95;-0.95	5.31	0.884	0.19182	.	0.401257	0.32328	N	0.006241	T	0.66607	0.2806	L	0.56396	1.775	0.28548	N	0.911751	B	0.02656	0.0	B	0.10450	0.005	T	0.59112	-0.7515	10	0.36615	T	0.2	.	10.5217	0.44922	0.3068:0.0:0.0:0.6932	.	168	P23526	SAHH_HUMAN	T	168;140	ENSP00000217426:M168T;ENSP00000442820:M140T	ENSP00000217426:M168T	M	-	2	0	AHCY	32342941	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.461000	0.45040	0.336000	0.23639	0.459000	0.35465	ATG		0.572	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		5	439	0	0	0	1	0	5	439				
GTF2H1	2965	broad.mit.edu	37	11	18357301	18357301	+	Splice_Site	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:18357301G>T	ENST00000265963.4	+	3	315	c.155G>T	c.(154-156)tGc>tTc	p.C52F	GTF2H1_ENST00000531757.1_3'UTR|GTF2H1_ENST00000524753.4_5'Flank|GTF2H1_ENST00000453096.2_Splice_Site_p.C52F|GTF2H1_ENST00000534641.1_Intron	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	52					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.C52F(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TTCTTTTTAGGCCAGAAAATT	0.423								Nucleotide excision repair (NER)																														ENST00000265963.4																			1	Substitution - Missense(1)	p.C52F(1)	kidney(1)	endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.e3-1	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 1, 62kDa							80.0	73.0	76.0					11																	18357301		2199	4293	6492	SO:0001630	splice_region_variant	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18357301G>T		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.155-1G>T	11.37:g.18357301G>T			Somatic				GTF2H1_ENST00000453096.2_Splice_Site_p.C52_splice|GTF2H1_ENST00000531757.1_3'UTR|GTF2H1_ENST00000534641.1_Intron	p.C52_splice	NM_005316.3	NP_005307.1	WXS	Illumina GAIIx	Phase_I	P32780	TF2H1_HUMAN			3	315	+			52					B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Splice_Site	SNP	ENST00000265963.4	37	c.154_splice	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801169	0.90538	.	.	ENSG00000110768	ENST00000453096;ENST00000525831;ENST00000265963	T;T	0.21932	1.98;1.98	5.75	5.75	0.90469	TFIIH p62 subunit, N-terminal (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.30885	0.0779	L	0.29908	0.895	0.80722	D	1	P	0.46987	0.888	P	0.54664	0.758	T	0.00548	-1.1677	9	.	.	.	.	19.9577	0.97228	0.0:0.0:1.0:0.0	.	52	P32780	TF2H1_HUMAN	F	52	ENSP00000393638:C52F;ENSP00000265963:C52F	.	C	+	2	0	GTF2H1	18313877	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.175000	0.94831	2.714000	0.92807	0.563000	0.77884	TGC		0.423	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316	Missense_Mutation	47	73	1	0	8.43867e-41	1	9.02289e-41	47	73				
RBM47	54502	broad.mit.edu	37	4	40428110	40428110	+	Silent	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:40428110A>G	ENST00000381793.2	-	6	1989	c.1593T>C	c.(1591-1593)atT>atC	p.I531I	RBM47_ENST00000381795.6_Silent_p.I462I|RBM47_ENST00000295971.7_Silent_p.I531I|RP11-588L15.2_ENST00000514187.1_RNA|RBM47_ENST00000514014.1_Silent_p.I493I|RBM47_ENST00000319592.4_Silent_p.I462I			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	531	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.I462I(2)|p.I531I(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGGCAGTAGGAATTCTCTGAA	0.562																																						ENST00000319592.4																			3	Substitution - coding silent(3)	p.I462I(2)|p.I531I(1)	kidney(3)	breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1384-1386)atT>atC		RNA binding motif protein 47							57.0	55.0	56.0					4																	40428110		2203	4300	6503	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40428110A>G	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1593T>C	4.37:g.40428110A>G			Somatic				RBM47_ENST00000295971.7_Silent_p.I531I|RBM47_ENST00000381795.6_Silent_p.I462I|RBM47_ENST00000381793.2_Silent_p.I531I|RBM47_ENST00000514014.1_Silent_p.I493I	p.I462I			WXS	Illumina GAIIx	Phase_I	A0AV96	RBM47_HUMAN			6	2095	-			531					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.1386T>C	CCDS43223.1																																																																																				0.562	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		31	144	0	0	0	1	0	31	144				
ZNF479	90827	broad.mit.edu	37	7	57194311	57194311	+	Silent	SNP	G	G	A	rs547142284		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:57194311G>A	ENST00000331162.4	-	3	424	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGGGAGACCAGGTTTCTGTAG	0.378													.|||	1	0.000199681	0.0008	0.0	5008	,	,		21106	0.0		0.0	False		,,,				2504	0.0					ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(154-156)Ctg>Ttg		zinc finger protein 479							93.0	95.0	95.0					7																	57194311		2200	4299	6499	SO:0001819	synonymous_variant	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57194311G>A	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.154C>T	7.37:g.57194311G>A			Somatic					p.L52L	NM_033273.1	NP_150376.1	WXS	Illumina GAIIx	Phase_I	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		3	424	-			52			KRAB.			Silent	SNP	ENST00000331162.4	37	c.154C>T	CCDS43590.1																																																																																				0.378	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		4	262	0	0	0	1	0	4	262				
GON4L	54856	broad.mit.edu	37	1	155753882	155753882	+	Splice_Site	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:155753882T>G	ENST00000368331.1	-	14	1837		c.e14-2		GON4L_ENST00000437809.1_Splice_Site|GON4L_ENST00000471341.1_Splice_Site|GON4L_ENST00000361040.5_Splice_Site|GON4L_ENST00000271883.5_Splice_Site	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATCTTGGAACTGTGGGCAAAG	0.473																																						ENST00000437809.1																			3	Unknown(3)	p.?(3)	kidney(3)	NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.e14-2		gon-4-like (C. elegans)							127.0	105.0	112.0					1																	155753882		2203	4298	6501	SO:0001630	splice_region_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155753882T>G	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1789-2A>C	1.37:g.155753882T>G			Somatic				GON4L_ENST00000361040.5_Splice_Site|GON4L_ENST00000368331.1_Splice_Site|GON4L_ENST00000271883.5_Splice_Site|GON4L_ENST00000471341.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q3T8J9	GON4L_HUMAN			14	1911	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)							B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Splice_Site	SNP	ENST00000368331.1	37			.	.	.	.	.	.	.	.	.	.	T	16.61	3.171982	0.57584	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5988	0.56485	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GON4L	154020506	1.000000	0.71417	0.957000	0.39632	0.981000	0.71138	5.799000	0.69101	2.049000	0.60858	0.482000	0.46254	.		0.473	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	Intron	73	134	0	0	0	1	0	73	134				
BAZ2B	29994	broad.mit.edu	37	2	160295535	160295535	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:160295535A>T	ENST00000392783.2	-	7	1380	c.885T>A	c.(883-885)caT>caA	p.H295Q	BAZ2B_ENST00000392782.1_Missense_Mutation_p.H293Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.H293Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.H295Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGTTACTTTTATGTTGTGCTT	0.323																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(883-885)caT>caA		bromodomain adjacent to zinc finger domain, 2B							229.0	213.0	218.0					2																	160295535		1861	4088	5949	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160295535A>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.885T>A	2.37:g.160295535A>T	ENSP00000376534:p.His295Gln		Somatic				BAZ2B_ENST00000392782.1_Missense_Mutation_p.H293Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.H295Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.H293Q	p.H295Q	NM_013450.2	NP_038478.2	WXS	Illumina GAIIx	Phase_I	Q9UIF8	BAZ2B_HUMAN			7	1380	-			295					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.885T>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	A	10.66	1.412475	0.25465	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	5.25	1.12	0.20585	.	0.194727	0.24774	N	0.035710	T	0.07369	0.0186	L	0.51422	1.61	0.36073	D	0.842272	B;B;B;B;B;B	0.29136	0.005;0.001;0.234;0.002;0.002;0.001	B;B;B;B;B;B	0.32090	0.004;0.002;0.14;0.002;0.002;0.001	T	0.24584	-1.0156	10	0.49607	T	0.09	-6.8538	1.9947	0.03454	0.5273:0.1222:0.232:0.1185	.	293;232;295;293;293;295	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	Q	293;295;295;293;232	ENSP00000376533:H293Q;ENSP00000376534:H295Q;ENSP00000348087:H295Q;ENSP00000339670:H293Q	ENSP00000339670:H293Q	H	-	3	2	BAZ2B	160003781	0.996000	0.38824	0.997000	0.53966	0.997000	0.91878	0.516000	0.22817	-0.049000	0.13379	0.460000	0.39030	CAT		0.323	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			5	124	0	0	0	1	0	5	124				
SPZ1	84654	broad.mit.edu	37	5	79616637	79616637	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:79616637C>T	ENST00000296739.4	+	1	848	c.603C>T	c.(601-603)aaC>aaT	p.N201N		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	201	Basic motif. {ECO:0000255}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N201N(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		ACTCTGAGAACACCGCACAAG	0.353																																						ENST00000296739.4																			1	Substitution - coding silent(1)	p.N201N(1)	kidney(1)	endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(601-603)aaC>aaT		spermatogenic leucine zipper 1							70.0	64.0	66.0					5																	79616637		1826	4078	5904	SO:0001819	synonymous_variant	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616637C>T		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.603C>T	5.37:g.79616637C>T			Somatic					p.N201N	NM_032567.3	NP_115956.3	WXS	Illumina GAIIx	Phase_I	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	848	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	201					B2RA21|Q8N4P1|Q8N7E9	Silent	SNP	ENST00000296739.4	37	c.603C>T	CCDS43336.1																																																																																				0.353	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		31	81	0	0	0	1	0	31	81				
ADRA2A	150	broad.mit.edu	37	10	112838936	112838936	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:112838936C>T	ENST00000280155.2	+	1	2147	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	379					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGGCCGTGGTCATCGGAGTGT	0.662																																					Esophageal Squamous(173;605 2658 7278 49362)	ENST00000280155.2																			0				breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1180-1182)gtC>gtT		adrenoceptor alpha 2A	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)						139.0	111.0	121.0					10																	112838936		2203	4300	6503	SO:0001819	synonymous_variant	150				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	g.chr10:112838936C>T	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1182C>T	10.37:g.112838936C>T			Somatic					p.V394V	NM_000681.3	NP_000672.3	WXS	Illumina GAIIx	Phase_I	P08913	ADA2A_HUMAN		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	1	2147	+		Breast(234;0.0735)|Lung NSC(174;0.238)	379					B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	ENST00000280155.2	37	c.1182C>T	CCDS7569.2																																																																																				0.662	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		4	27	0	0	0	1	0	4	27				
TXNDC15	79770	broad.mit.edu	37	5	134232037	134232037	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:134232037G>A	ENST00000358387.4	+	4	1434	c.809G>A	c.(808-810)gGa>gAa	p.G270E	TXNDC15_ENST00000546290.1_Missense_Mutation_p.G247E	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	270	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.G270E(1)|p.G270>?(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTATTTCAAGGAGCTAAACCA	0.353																																						ENST00000358387.4																			2	Substitution - Missense(1)|Complex(1)	p.G270E(1)|p.G270>?(1)	kidney(2)	breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17						c.(808-810)gGa>gAa		thioredoxin domain containing 15							107.0	108.0	108.0					5																	134232037		2203	4300	6503	SO:0001583	missense	79770				cell redox homeostasis	integral to membrane		g.chr5:134232037G>A	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.809G>A	5.37:g.134232037G>A	ENSP00000351157:p.Gly270Glu		Somatic				TXNDC15_ENST00000546290.1_Missense_Mutation_p.G247E	p.G270E	NM_024715.3	NP_078991.3	WXS	Illumina GAIIx	Phase_I	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	1434	+			270			Thioredoxin.		D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	c.809G>A	CCDS4180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.752402|4.752402	0.89753|0.89753	.|.	.|.	ENSG00000113621|ENSG00000113621	ENST00000508779|ENST00000441965;ENST00000358387;ENST00000546290	.|T;T	.|0.21734	.|1.99;1.99	6.17|6.17	5.31|5.31	0.75309|0.75309	.|Thioredoxin domain (1);Thioredoxin-like fold (3);	.|0.046839	.|0.85682	.|N	.|0.000000	T|T	0.45155|0.45155	0.1328|0.1328	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.43669|0.43669	-0.9377|-0.9377	5|10	.|0.72032	.|D	.|0.01	-17.238|-17.238	15.7563|15.7563	0.78030|0.78030	0.065:0.0:0.935:0.0|0.065:0.0:0.935:0.0	.|.	.|270	.|Q96J42	.|TXD15_HUMAN	K|E	254|254;270;247	.|ENSP00000351157:G270E;ENSP00000443942:G247E	.|ENSP00000351157:G270E	E|G	+|+	1|2	0|0	TXNDC15|TXNDC15	134259936|134259936	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.476000|9.476000	0.97823|0.97823	1.626000|1.626000	0.50381|0.50381	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.353	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		44	80	0	0	0	1	0	44	80				
FSTL5	56884	broad.mit.edu	37	4	162463847	162463847	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:162463847T>A	ENST00000306100.5	-	9	1452		c.e9-2		FSTL5_ENST00000536695.1_Splice_Site|FSTL5_ENST00000379164.4_Splice_Site|FSTL5_ENST00000511170.1_Splice_Site|FSTL5_ENST00000427802.2_Splice_Site	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5							extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTGGAGGAACTAAAGGAAAAA	0.368																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.e9-2		follistatin-like 5							49.0	50.0	50.0					4																	162463847		2203	4299	6502	SO:0001630	splice_region_variant	56884					extracellular region	calcium ion binding	g.chr4:162463847T>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1016-2A>T	4.37:g.162463847T>A			Somatic				FSTL5_ENST00000511170.1_Splice_Site|FSTL5_ENST00000379164.4_Splice_Site|FSTL5_ENST00000427802.2_Splice_Site|FSTL5_ENST00000536695.1_Splice_Site		NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	WXS	Illumina GAIIx	Phase_I	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	9	1452	-	all_hematologic(180;0.24)							E9PCP6|Q9NSW7|Q9ULF7	Splice_Site	SNP	ENST00000306100.5	37		CCDS3802.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.344754	0.61073	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5866	0.68328	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FSTL5	162683297	1.000000	0.71417	0.917000	0.36280	0.629000	0.37895	7.698000	0.84413	2.100000	0.63781	0.460000	0.39030	.		0.368	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	Intron	4	92	0	0	0	1	0	4	92				
LARP1	23367	broad.mit.edu	37	5	154179286	154179286	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:154179286T>A	ENST00000336314.4	+	9	1306	c.1282T>A	c.(1282-1284)Ttt>Att	p.F428I		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	505	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.F505I(1)|p.F428I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTGCCCTGAATTTGTTCCCCG	0.517																																						ENST00000336314.4																			2	Substitution - Missense(2)	p.F505I(1)|p.F428I(1)	kidney(2)	breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1282-1284)Ttt>Att		La ribonucleoprotein domain family, member 1							159.0	156.0	157.0					5																	154179286		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154179286T>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1282T>A	5.37:g.154179286T>A	ENSP00000336721:p.Phe428Ile		Somatic					p.F428I	NM_015315.3	NP_056130.2	WXS	Illumina GAIIx	Phase_I	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		9	1306	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	505			HTH La-type RNA-binding.		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.1282T>A	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	T	34	5.348300	0.95807	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000523163;ENST00000518742	T;T;T;T;T	0.50813	1.75;1.26;1.32;0.77;0.73	6.09	6.09	0.99107	.	0.000000	0.85682	D	0.000000	T	0.68897	0.3051	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.982;0.994	T	0.66416	-0.5929	10	0.26408	T	0.33	-9.3982	16.6696	0.85262	0.0:0.0:0.0:1.0	.	505;428	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	I	428;505;300;213;112	ENSP00000336721:F428I;ENSP00000428589:F505I;ENSP00000429904:F300I;ENSP00000430438:F213I;ENSP00000431072:F112I	ENSP00000336721:F428I	F	+	1	0	LARP1	154159479	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.940000	0.87693	2.338000	0.79540	0.533000	0.62120	TTT		0.517	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		129	551	0	0	0	1	0	129	551				
RFX7	64864	broad.mit.edu	37	15	56387792	56387792	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:56387792C>T	ENST00000559447.2	-	9	2114	c.1843G>A	c.(1843-1845)Gct>Act	p.A615T	RFX7_ENST00000422057.1_Missense_Mutation_p.A615T|RFX7_ENST00000423270.1_Missense_Mutation_p.A712T|RFX7_ENST00000317318.6_Missense_Mutation_p.A712T			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	615					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGAATCTGAGCACCTGCTGTT	0.443																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2134-2136)Gct>Act		regulatory factor X, 7							119.0	109.0	112.0					15																	56387792		1926	4139	6065	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56387792C>T			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1843G>A	15.37:g.56387792C>T	ENSP00000453281:p.Ala615Thr		Somatic				RFX7_ENST00000422057.1_Missense_Mutation_p.A615T|RFX7_ENST00000559447.2_Missense_Mutation_p.A615T|RFX7_ENST00000317318.6_Missense_Mutation_p.A712T	p.A712T	NM_022841.5	NP_073752.5	WXS	Illumina GAIIx	Phase_I	Q2KHR2	RFX7_HUMAN			9	2133	-			615					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.2134G>A		.	.	.	.	.	.	.	.	.	.	C	16.32	3.089814	0.55968	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.55930	0.49;0.49;0.49	5.47	4.56	0.56223	.	0.000000	0.64402	D	0.000003	T	0.39226	0.1070	N	0.19112	0.55	0.45284	D	0.998281	P;P	0.42456	0.58;0.78	B;B	0.38106	0.196;0.265	T	0.42882	-0.9425	10	0.72032	D	0.01	-16.3271	14.8685	0.70437	0.1444:0.8555:0.0:0.0	.	615;615	Q2KHR2;C9JU50	RFX7_HUMAN;.	T	615;712;712	ENSP00000387504:A615T;ENSP00000313299:A712T;ENSP00000397644:A712T	ENSP00000313299:A712T	A	-	1	0	RFX7	54175084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.169000	0.42434	1.291000	0.44653	0.591000	0.81541	GCT		0.443	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		54	299	0	0	0	1	0	54	299				
FIZ1	84922	broad.mit.edu	37	19	56109181	56109181	+	Silent	SNP	G	G	A	rs189301284		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:56109181G>A	ENST00000221665.3	-	2	140	c.51C>T	c.(49-51)gcC>gcT	p.A17A	FIZ1_ENST00000592585.1_Silent_p.A17A|ZNF524_ENST00000301073.3_5'Flank	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	17					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)	p.A17A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCCTGGGGGCGGCAGCGGCGG	0.672													G|||	1	0.000199681	0.0	0.0014	5008	,	,		10693	0.0		0.0	False		,,,				2504	0.0					ENST00000221665.3																			1	Substitution - coding silent(1)	p.A17A(1)	kidney(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(49-51)gcC>gcT		FLT3-interacting zinc finger 1							17.0	18.0	18.0					19																	56109181		2200	4299	6499	SO:0001819	synonymous_variant	84922				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	g.chr19:56109181G>A	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.51C>T	19.37:g.56109181G>A			Somatic				FIZ1_ENST00000592585.1_Silent_p.A17A	p.A17A	NM_032836.2	NP_116225.2	WXS	Illumina GAIIx	Phase_I	Q96SL8	FIZ1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	2	140	-			17					A2RU72|Q6ZMJ7	Silent	SNP	ENST00000221665.3	37	c.51C>T	CCDS12928.1																																																																																				0.672	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836		6	14	0	0	0	1	0	6	14				
PNMA2	10687	broad.mit.edu	37	8	26366045	26366045	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:26366045G>A	ENST00000522362.2	-	3	1121	c.227C>T	c.(226-228)tCg>tTg	p.S76L	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	76					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gggaatggccgagacatcagt	0.473																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(226-228)tCg>tTg		paraneoplastic Ma antigen 2							73.0	73.0	73.0					8																	26366045		2203	4300	6503	SO:0001583	missense	10687				apoptosis	nucleolus	protein binding	g.chr8:26366045G>A		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.227C>T	8.37:g.26366045G>A	ENSP00000429344:p.Ser76Leu		Somatic					p.S76L	NM_007257.5	NP_009188.1	WXS	Illumina GAIIx	Phase_I	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1121	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	76					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	c.227C>T	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842215	0.32513	.	.	ENSG00000240694	ENST00000522362	T	0.13901	2.55	3.77	3.77	0.43336	.	.	.	.	.	T	0.10423	0.0255	L	0.41492	1.28	0.09310	N	1	P	0.43431	0.807	B	0.32090	0.14	T	0.16482	-1.0401	9	0.49607	T	0.09	-24.0365	11.3945	0.49834	0.0:0.0:1.0:0.0	.	76	Q9UL42	PNMA2_HUMAN	L	76	ENSP00000429344:S76L	ENSP00000429344:S76L	S	-	2	0	PNMA2	26421962	0.920000	0.31207	0.060000	0.19600	0.055000	0.15305	2.291000	0.43540	2.389000	0.81357	0.563000	0.77884	TCG		0.473	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		8	135	0	0	0	1	0	8	135				
AHNAK	79026	broad.mit.edu	37	11	62295365	62295365	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:62295365G>A	ENST00000378024.4	-	5	6798	c.6524C>T	c.(6523-6525)cCt>cTt	p.P2175L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2175					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTGCATCTCAGGCATCTTAAA	0.493																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(6523-6525)cCt>cTt		AHNAK nucleoprotein							199.0	210.0	206.0					11																	62295365		2202	4297	6499	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295365G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6524C>T	11.37:g.62295365G>A	ENSP00000367263:p.Pro2175Leu		Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P2175L	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	6798	-		Melanoma(852;0.155)	2175					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6524C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912024	0.33721	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.03065	4.06	4.03	3.09	0.35607	.	0.000000	0.31636	U	0.007315	T	0.29321	0.0730	H	0.98487	4.245	0.50467	D	0.999878	D	0.63046	0.992	D	0.65573	0.936	T	0.54289	-0.8316	10	0.87932	D	0	.	13.4036	0.60898	0.0:0.1599:0.84:0.0	.	2175	Q09666	AHNK_HUMAN	L	264;2175	ENSP00000367263:P2175L	ENSP00000244934:P264L	P	-	2	0	AHNAK	62051941	1.000000	0.71417	0.729000	0.30791	0.081000	0.17604	5.103000	0.64578	0.771000	0.33359	0.298000	0.19748	CCT		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		4	452	0	0	0	1	0	4	452				
NRP2	8828	broad.mit.edu	37	2	206617646	206617646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:206617646G>A	ENST00000357785.5	+	12	2022	c.1991G>A	c.(1990-1992)tGg>tAg	p.W664*	NRP2_ENST00000272849.3_Nonsense_Mutation_p.W664*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.W664*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.W664*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.W664*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.W664*|NRP2_ENST00000360409.3_Nonsense_Mutation_p.W664*			Q99435	NELL2_HUMAN	neuropilin 2	0	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CATGCCAAGTGGCTCCGGACC	0.522																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1990-1992)tGg>tAg		neuropilin 2							72.0	73.0	72.0					2																	206617646		2203	4300	6503	SO:0001587	stop_gained	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206617646G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1991G>A	2.37:g.206617646G>A	ENSP00000350432:p.Trp664*		Somatic				NRP2_ENST00000357785.5_Nonsense_Mutation_p.W664*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.W664*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.W664*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.W664*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.W664*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.W664*	p.W664*	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	WXS	Illumina GAIIx	Phase_I	O60462	NRP2_HUMAN			12	2782	+			664			MAM.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Nonsense_Mutation	SNP	ENST00000357785.5	37	c.1991G>A	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	47	13.598323	0.99752	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	.	.	.	5.71	4.78	0.61160	.	0.051828	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-14.4419	14.5502	0.68059	0.0:0.1457:0.8543:0.0	.	.	.	.	X	664	.	ENSP00000272849:W664X	W	+	2	0	NRP2	206325891	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.362000	0.59467	2.698000	0.92095	0.561000	0.74099	TGG		0.522	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			7	164	0	0	0	1	0	7	164				
ZNF416	55659	broad.mit.edu	37	19	58084565	58084565	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:58084565C>T	ENST00000196489.3	-	4	929	c.707G>A	c.(706-708)tGc>tAc	p.C236Y		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TTTTCCAGTGCAGACTCTAGG	0.468																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(706-708)tGc>tAc		zinc finger protein 416							163.0	162.0	162.0					19																	58084565		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084565C>T	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.707G>A	19.37:g.58084565C>T	ENSP00000196489:p.Cys236Tyr		Somatic					p.C236Y	NM_017879.1	NP_060349.1	WXS	Illumina GAIIx	Phase_I	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	929	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	236					Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.707G>A	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.521298	0.00967	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.07688	3.17	3.54	-6.62	0.01813	.	.	.	.	.	T	0.02888	0.0086	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43861	-0.9365	9	0.62326	D	0.03	.	3.1556	0.06503	0.1017:0.3623:0.1207:0.4153	.	236	Q9BWM5	ZN416_HUMAN	Y	236;222;216	ENSP00000196489:C236Y	ENSP00000196489:C236Y	C	-	2	0	ZNF416	62776377	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.135000	0.15952	-1.108000	0.03000	-0.150000	0.13652	TGC		0.468	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		8	444	0	0	0	1	0	8	444				
FLG2	388698	broad.mit.edu	37	1	152324721	152324721	+	Silent	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152324721A>T	ENST00000388718.5	-	3	5613	c.5541T>A	c.(5539-5541)acT>acA	p.T1847T	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1847					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGTCCATGAGTAGTTCCAT	0.502																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5539-5541)acT>acA		filaggrin family member 2							324.0	282.0	296.0					1																	152324721		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324721A>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5541T>A	1.37:g.152324721A>T			Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.T1847T	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5613	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1847					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.5541T>A	CCDS30861.1																																																																																				0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		8	878	0	0	0	1	0	8	878				
ZGRF1	55345	broad.mit.edu	37	4	113540570	113540570	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:113540570C>T	ENST00000505019.1	-	6	753	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	C4orf21_ENST00000309071.5_Missense_Mutation_p.E210K|C4orf21_ENST00000445203.2_Missense_Mutation_p.E179K	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		210						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AAATAATTTTCTTCACACAGC	0.388																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(628-630)Gaa>Aaa		chromosome 4 open reading frame 21							42.0	46.0	45.0					4																	113540570		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113540570C>T																												ENST00000505019.1:c.628G>A	4.37:g.113540570C>T	ENSP00000424737:p.Glu210Lys		Somatic				C4orf21_ENST00000309071.5_Missense_Mutation_p.E210K|C4orf21_ENST00000445203.2_Missense_Mutation_p.E179K	p.E210K	NM_018392.4	NP_060862.3	WXS	Illumina GAIIx	Phase_I	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	753	-		Ovarian(17;0.156)	210					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.628G>A		.	.	.	.	.	.	.	.	.	.	C	18.68	3.676269	0.67928	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.83837	-1.77;1.73;1.33	5.17	4.32	0.51571	.	0.664334	0.14410	N	0.321324	T	0.78880	0.4353	M	0.69823	2.125	0.09310	N	1	B;B	0.18461	0.028;0.017	B;B	0.16289	0.015;0.013	T	0.64305	-0.6439	10	0.22706	T	0.39	-3.8228	6.7836	0.23662	0.0:0.6922:0.1464:0.1614	.	210;210	Q86YA3;G5EA02	CD021_HUMAN;.	K	210;210;179	ENSP00000424737:E210K;ENSP00000309095:E210K;ENSP00000390505:E179K	ENSP00000309095:E210K	E	-	1	0	C4orf21	113760019	0.000000	0.05858	0.004000	0.12327	0.388000	0.30384	0.558000	0.23469	1.162000	0.42619	0.591000	0.81541	GAA		0.388	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			3	31	0	0	0	1	0	3	31				
HEATR3	55027	broad.mit.edu	37	16	50128614	50128614	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:50128614A>T	ENST00000299192.7	+	12	1701		c.e12-1		HEATR3_ENST00000564942.1_Splice_Site|HEATR3_ENST00000285767.4_Splice_Site	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3											cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTTGTGTTTTAGATTTTGCTA	0.333																																						ENST00000299192.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.e12-1		HEAT repeat containing 3							77.0	79.0	78.0					16																	50128614		2198	4299	6497	SO:0001630	splice_region_variant	55027						binding	g.chr16:50128614A>T	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1511-1A>T	16.37:g.50128614A>T			Somatic				HEATR3_ENST00000564942.1_Splice_Site|HEATR3_ENST00000285767.4_Splice_Site		NM_182922.2	NP_891552.1	WXS	Illumina GAIIx	Phase_I	Q7Z4Q2	HEAT3_HUMAN			12	1701	+								A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Splice_Site	SNP	ENST00000299192.7	37		CCDS10739.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.411080	0.83340	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3662	0.83325	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HEATR3	48686115	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.514000	0.81750	2.274000	0.75844	0.533000	0.62120	.		0.333	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922	Intron	4	121	0	0	0	1	0	4	121				
SUFU	51684	broad.mit.edu	37	10	104375093	104375093	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:104375093G>A	ENST00000369902.3	+	9	1257	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	SUFU_ENST00000369899.2_Missense_Mutation_p.R364Q|SUFU_ENST00000423559.2_Missense_Mutation_p.R364Q	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	364					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ATTCGCACGCGGCAGCTTGAG	0.567			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													ENST00000369902.3			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"""D, F, S"""	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(1090-1092)cGg>cAg		suppressor of fused homolog (Drosophila)							116.0	99.0	105.0					10																	104375093		2203	4300	6503	SO:0001583	missense	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104375093G>A	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.1091G>A	10.37:g.104375093G>A	ENSP00000358918:p.Arg364Gln		Somatic				SUFU_ENST00000423559.2_Missense_Mutation_p.R364Q|SUFU_ENST00000369899.2_Missense_Mutation_p.R364Q	p.R364Q	NM_016169.3	NP_057253.2	WXS	Illumina GAIIx	Phase_I	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	9	1257	+		Colorectal(252;0.207)	364					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	ENST00000369902.3	37	c.1091G>A	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344969	0.61073	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	T;T;T	0.46451	0.87;0.87;0.87	5.21	5.21	0.72293	Suppressor of fused C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	L	0.52364	1.645	0.58432	D	0.999999	P;P;P	0.44478	0.836;0.803;0.68	B;B;B	0.32211	0.106;0.095;0.142	T	0.32295	-0.9912	10	0.38643	T	0.18	-19.8737	18.7644	0.91866	0.0:0.0:1.0:0.0	.	364;364;364	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	Q	364	ENSP00000358918:R364Q;ENSP00000358915:R364Q;ENSP00000411597:R364Q	ENSP00000358915:R364Q	R	+	2	0	SUFU	104365083	1.000000	0.71417	0.970000	0.41538	0.127000	0.20565	9.476000	0.97823	2.420000	0.82092	0.561000	0.74099	CGG		0.567	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		4	176	0	0	0	1	0	4	176				
PADI3	51702	broad.mit.edu	37	1	17575702	17575702	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:17575702G>A	ENST00000375460.3	+	1	110	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	24					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGCTGGCGTGGAGACCCTCGT	0.612																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(70-72)Gag>Aag		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						152.0	129.0	137.0					1																	17575702		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17575702G>A	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.70G>A	1.37:g.17575702G>A	ENSP00000364609:p.Glu24Lys		Somatic					p.E24K	NM_016233.2	NP_057317.2	WXS	Illumina GAIIx	Phase_I	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	1	110	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	24					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.70G>A	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701630	0.88924	.	.	ENSG00000142619	ENST00000375460	T	0.11063	2.81	5.56	5.56	0.83823	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	0.245457	0.37761	N	0.001956	T	0.31513	0.0799	M	0.73598	2.24	0.44995	D	0.998012	D	0.69078	0.997	D	0.79108	0.992	T	0.01349	-1.1378	10	0.24483	T	0.36	-35.986	15.0247	0.71659	0.0:0.0:1.0:0.0	.	24	Q9ULW8	PADI3_HUMAN	K	24	ENSP00000364609:E24K	ENSP00000364609:E24K	E	+	1	0	PADI3	17448289	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.126000	0.64721	2.627000	0.88993	0.561000	0.74099	GAG		0.612	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			28	211	0	0	0	1	0	28	211				
FAT1	2195	broad.mit.edu	37	4	187549318	187549318	+	Silent	SNP	C	C	T	rs373225972		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:187549318C>T	ENST00000441802.2	-	9	5009	c.4800G>A	c.(4798-4800)tcG>tcA	p.S1600S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1600	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1600S(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGACTCGATCGAGTACAGCA	0.448										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			2	Substitution - coding silent(2)	p.S1600S(2)	kidney(2)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(4798-4800)tcG>tcA		FAT atypical cadherin 1		C		0,4034		0,0,2017	37.0	38.0	38.0		4800	-11.0	0.0	4		38	1,8371		0,1,4185	no	coding-synonymous	FAT1	NM_005245.3		0,1,6202	TT,TC,CC		0.0119,0.0,0.0081		1600/4589	187549318	1,12405	2017	4186	6203	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187549318C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4800G>A	4.37:g.187549318C>T		HNSCC(5;0.00058)	Somatic					p.S1600S	NM_005245.3	NP_005236.2	WXS	Illumina GAIIx	Phase_I	Q14517	FAT1_HUMAN			9	5009	-			1600			Cadherin 14.			Silent	SNP	ENST00000441802.2	37	c.4800G>A	CCDS47177.1																																																																																				0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		8	81	0	0	0	1	0	8	81				
MTOR	2475	broad.mit.edu	37	1	11184579	11184579	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:11184579G>A	ENST00000361445.4	-	47	6714	c.6638C>T	c.(6637-6639)cCa>cTa	p.P2213L	MTOR_ENST00000376838.1_Missense_Mutation_p.P418L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2213	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AAGAGATGTTGGGTCATTGGC	0.453																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(6637-6639)cCa>cTa		mechanistic target of rapamycin (serine/threonine kinase)							105.0	101.0	103.0					1																	11184579		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11184579G>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6638C>T	1.37:g.11184579G>A	ENSP00000354558:p.Pro2213Leu		Somatic				MTOR_ENST00000376838.1_Missense_Mutation_p.P418L	p.P2213L	NM_004958.3	NP_004949.1	WXS	Illumina GAIIx	Phase_I	P42345	MTOR_HUMAN			47	6714	-			2213			PI3K/PI4K.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.6638C>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	32	5.121565	0.94385	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.77489	-1.1;-1.1	5.8	5.8	0.92144	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.83142	0.5190	M	0.68593	2.085	0.80722	D	1	P	0.47034	0.889	P	0.50270	0.636	D	0.84173	0.0435	10	0.62326	D	0.03	-14.7705	18.2956	0.90145	0.0:0.0:1.0:0.0	.	2213	P42345	MTOR_HUMAN	L	2213;418	ENSP00000354558:P2213L;ENSP00000366034:P418L	ENSP00000354558:P2213L	P	-	2	0	MTOR	11107166	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	9.362000	0.97126	2.761000	0.94854	0.650000	0.86243	CCA		0.453	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		15	89	0	0	0	1	0	15	89				
NDUFS3	4722	broad.mit.edu	37	11	47602520	47602520	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:47602520G>T	ENST00000263774.4	+	4	447	c.365G>T	c.(364-366)cGg>cTg	p.R122L	KBTBD4_ENST00000533290.1_5'Flank|KBTBD4_ENST00000395288.2_5'Flank|NDUFS3_ENST00000528192.1_Missense_Mutation_p.R122L|NDUFS3_ENST00000533507.1_3'UTR|NDUFS3_ENST00000534716.2_Missense_Mutation_p.R122L|KBTBD4_ENST00000526005.1_5'Flank|KBTBD4_ENST00000525720.1_5'Flank|KBTBD4_ENST00000430070.2_5'Flank	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	122					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					Doxorubicin(DB00997)	GTCCCAACTCGGCAAAACCGT	0.453																																					Pancreas(15;551 601 22438 23457 52512)	ENST00000534716.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9						c.(364-366)cGg>cTg		NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						122.0	114.0	116.0					11																	47602520		2201	4298	6499	SO:0001583	missense	4722				induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr11:47602520G>T	AF067139	CCDS7941.1	11p11.11	2011-08-03	2002-08-29		ENSG00000213619	ENSG00000213619	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7710	protein-coding gene	gene with protein product	"""complex I 30kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"""	603846	"""NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004551		Approved	CI-30	uc001nga.2	O75489	OTTHUMG00000166893	ENST00000263774.4:c.365G>T	11.37:g.47602520G>T	ENSP00000263774:p.Arg122Leu		Somatic				NDUFS3_ENST00000263774.4_Missense_Mutation_p.R122L|NDUFS3_ENST00000533507.1_3'UTR|NDUFS3_ENST00000528192.1_Missense_Mutation_p.R122L	p.R122L			WXS	Illumina GAIIx	Phase_I	O75489	NDUS3_HUMAN			4	383	+			122					B2R9J1|B4DFM8|Q9UNQ8	Missense_Mutation	SNP	ENST00000263774.4	37	c.365G>T	CCDS7941.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362234	0.82353	.	.	ENSG00000213619	ENST00000263774;ENST00000528192;ENST00000534716	D;D;D	0.86030	-1.65;-2.06;-2.06	6.1	5.18	0.71444	NADH:ubiquinone oxidoreductase, 30kDa subunit (1);	0.111999	0.64402	D	0.000018	D	0.92580	0.7643	M	0.91920	3.255	0.58432	D	0.99999	D;P;D	0.71674	0.998;0.941;0.974	D;P;P	0.63957	0.92;0.814;0.899	D	0.93469	0.6817	10	0.87932	D	0	-9.6203	10.7827	0.46388	0.0675:0.1321:0.8004:0.0	.	122;122;48	B4DFM8;O75489;Q9UF24	.;NDUS3_HUMAN;.	L	122	ENSP00000263774:R122L;ENSP00000432099:R122L;ENSP00000434970:R122L	ENSP00000263774:R122L	R	+	2	0	NDUFS3	47559096	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.444000	0.73452	1.563000	0.49615	0.650000	0.86243	CGG		0.453	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391749.1	NM_004551		5	238	1	0	0.00198382	1	0.00202262	5	238				
SLC24A3	57419	broad.mit.edu	37	20	19701739	19701739	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:19701739C>T	ENST00000328041.6	+	17	2087	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	630					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGACTGAGTTCAACGTGTTCA	0.577																																						ENST00000328041.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1888-1890)ttC>ttT		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							270.0	210.0	231.0					20																	19701739		2203	4300	6503	SO:0001819	synonymous_variant	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19701739C>T	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1890C>T	20.37:g.19701739C>T			Somatic					p.F630F	NM_020689.3	NP_065740.2	WXS	Illumina GAIIx	Phase_I	Q9HC58	NCKX3_HUMAN			17	2087	+			630					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Silent	SNP	ENST00000328041.6	37	c.1890C>T	CCDS13140.1																																																																																				0.577	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		17	947	0	0	0	1	0	17	947				
NAT2	10	broad.mit.edu	37	8	18258243	18258243	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:18258243T>C	ENST00000286479.3	+	2	837	c.730T>C	c.(730-732)Ttc>Ctc	p.F244L	NAT2_ENST00000520116.1_Missense_Mutation_p.F114L	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	244					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)	p.F244L(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	CTATAGAAAATTCAATTATAA	0.393									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000286479.3																			1	Substitution - Missense(1)	p.F244L(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12						c.(730-732)Ttc>Ctc		N-acetyltransferase 2 (arylamine N-acetyltransferase)							53.0	56.0	55.0					8																	18258243		2203	4300	6503	SO:0001583	missense	10	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18258243T>C	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.730T>C	8.37:g.18258243T>C	ENSP00000286479:p.Phe244Leu		Somatic				NAT2_ENST00000520116.1_Missense_Mutation_p.F114L	p.F244L	NM_000015.2	NP_000006.2	WXS	Illumina GAIIx	Phase_I	P11245	ARY2_HUMAN		Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	2	837	+			244					O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Missense_Mutation	SNP	ENST00000286479.3	37	c.730T>C	CCDS6008.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.921126	0.33908	.	.	ENSG00000156006	ENST00000286479;ENST00000520116	T;T	0.02656	4.75;4.21	2.71	2.71	0.32032	.	0.075453	0.53938	D	0.000042	T	0.11836	0.0288	M	0.83692	2.655	0.31082	N	0.711808	D	0.61697	0.99	D	0.67103	0.949	T	0.01114	-1.1447	10	0.49607	T	0.09	.	7.2672	0.26235	0.0:0.0:0.0:1.0	.	244	A4Z6T7	.	L	244;114	ENSP00000286479:F244L;ENSP00000428416:F114L	ENSP00000286479:F244L	F	+	1	0	NAT2	18302523	1.000000	0.71417	0.668000	0.29813	0.152000	0.21847	6.426000	0.73374	1.480000	0.48289	0.358000	0.22013	TTC		0.393	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		21	24	0	0	0	1	0	21	24				
NUP35	129401	broad.mit.edu	37	2	184016285	184016285	+	Silent	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:184016285A>C	ENST00000295119.4	+	5	550	c.447A>C	c.(445-447)acA>acC	p.T149T	NUP35_ENST00000409798.1_Silent_p.T132T|NUP35_ENST00000541912.1_Silent_p.T14T	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	149					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T149T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						GAAAGACGACATTATCTCCTG	0.413																																						ENST00000295119.4																			1	Substitution - coding silent(1)	p.T149T(1)	kidney(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(445-447)acA>acC		nucleoporin 35kDa							119.0	110.0	113.0					2																	184016285		2203	4300	6503	SO:0001819	synonymous_variant	129401				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane		g.chr2:184016285A>C	AF514993	CCDS2290.1, CCDS74614.1	2q32	2008-02-05			ENSG00000163002	ENSG00000163002			29797	protein-coding gene	gene with protein product		608140					Standard	XM_005246284		Approved	MP44	uc002upf.3	Q8NFH5	OTTHUMG00000132621	ENST00000295119.4:c.447A>C	2.37:g.184016285A>C			Somatic				NUP35_ENST00000409798.1_Silent_p.T132T|NUP35_ENST00000541912.1_Silent_p.T14T	p.T149T	NM_138285.3	NP_612142.2	WXS	Illumina GAIIx	Phase_I	Q8NFH5	NUP53_HUMAN			5	550	+			149					B4DP57|B4DYB4|Q4ZFZ9|Q53S95|Q8TDJ1	Silent	SNP	ENST00000295119.4	37	c.447A>C	CCDS2290.1																																																																																				0.413	NUP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255865.1	NM_138285		37	99	0	0	0	1	0	37	99				
TNS1	7145	broad.mit.edu	37	2	218695115	218695115	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:218695115T>A	ENST00000171887.4	-	21	3451		c.e21-2		TNS1_ENST00000430930.1_Intron|TNS1_ENST00000419504.1_Splice_Site	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1						cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTCTGGTAACTAAGGAAAAAA	0.557																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.e21-2		tensin 1							80.0	71.0	74.0					2																	218695115		2203	4300	6503	SO:0001630	splice_region_variant	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218695115T>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2999-2A>T	2.37:g.218695115T>A			Somatic				TNS1_ENST00000419504.1_Splice_Site|TNS1_ENST00000430930.1_Intron		NM_022648.4	NP_072174.3	WXS	Illumina GAIIx	Phase_I	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	21	3451	-		Renal(207;0.0483)|Lung NSC(271;0.213)						Q4ZG71|Q6IPI5	Splice_Site	SNP	ENST00000171887.4	37		CCDS2407.1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.402552	0.25291	.	.	ENSG00000079308	ENST00000171887;ENST00000419504	.	.	.	4.4	1.99	0.26369	.	.	.	.	.	.	.	.	.	.	.	0.38326	D	0.943658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.1386	0.06447	0.2094:0.1108:0.0:0.6798	.	.	.	.	.	-1	.	.	.	-	.	.	TNS1	218403360	0.996000	0.38824	0.522000	0.27862	0.108000	0.19459	1.214000	0.32419	0.786000	0.33708	0.533000	0.62120	.		0.557	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	Intron	4	110	0	0	0	1	0	4	110				
IGSF6	10261	broad.mit.edu	37	16	21658470	21658470	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:21658470G>A	ENST00000268389.4	-	2	472	c.411C>T	c.(409-411)acC>acT	p.T137T	METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	137					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		CCACCAGTGTGGTCCCTCCTC	0.458																																						ENST00000268389.4																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(409-411)acC>acT		immunoglobulin superfamily, member 6							119.0	111.0	114.0					16																	21658470		2199	4300	6499	SO:0001819	synonymous_variant	10261				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr16:21658470G>A	AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"""Immunoglobulin superfamily / V-set domain containing"""	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.411C>T	16.37:g.21658470G>A			Somatic				METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	p.T137T	NM_005849.3	NP_005840.2	WXS	Illumina GAIIx	Phase_I	O95976	IGSF6_HUMAN		GBM - Glioblastoma multiforme(48;0.066)	2	472	-			137					Q8WWD8	Silent	SNP	ENST00000268389.4	37	c.411C>T	CCDS10599.1																																																																																				0.458	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1			67	340	0	0	0	1	0	67	340				
CD163	9332	broad.mit.edu	37	12	7651777	7651777	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:7651777G>A	ENST00000359156.4	-	4	667	c.465C>T	c.(463-465)tcC>tcT	p.S155S	CD163_ENST00000396620.3_Silent_p.S155S|CD163_ENST00000432237.2_Silent_p.S155S|CD163_ENST00000541972.1_Silent_p.S143S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	155					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TTTCCAAATTGGATCCATCTG	0.408																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(463-465)tcC>tcT		CD163 molecule							136.0	135.0	135.0					12																	7651777		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7651777G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.465C>T	12.37:g.7651777G>A			Somatic				CD163_ENST00000432237.2_Silent_p.S155S|CD163_ENST00000396620.3_Silent_p.S155S|CD163_ENST00000541972.1_Silent_p.S143S	p.S155S	NM_004244.5	NP_004235.4	WXS	Illumina GAIIx	Phase_I	Q86VB7	C163A_HUMAN			4	667	-			155					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.465C>T	CCDS8578.1																																																																																				0.408	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		11	557	0	0	0	1	0	11	557				
DPAGT1	1798	broad.mit.edu	37	11	118981555	118981555	+	5'Flank	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:118981555A>T	ENST00000409993.2	-	0	0				C2CD2L_ENST00000528586.1_5'Flank|C2CD2L_ENST00000336702.3_Splice_Site			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TCCTGTCTGTAGTTGGAAGTC	0.527																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.e4-1		C2CD2-like							138.0	140.0	139.0					11																	118981555		2200	4295	6495	SO:0001631	upstream_gene_variant	9854					integral to membrane		g.chr11:118981555A>T	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533		11.37:g.118981555A>T	Exception_encountered		Somatic						NM_014807.3	NP_055622.3	WXS	Illumina GAIIx	Phase_I	O14523	C2C2L_HUMAN			4	929	+								O15216|Q86WV9|Q9BWE6	Splice_Site	SNP	ENST00000409993.2	37		CCDS8411.1	.	.	.	.	.	.	.	.	.	.	A	9.174	1.021897	0.19433	.	.	ENSG00000172375	ENST00000336702	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8872	0.52608	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C2CD2L	118486765	1.000000	0.71417	0.855000	0.33649	0.173000	0.22820	7.146000	0.77373	2.026000	0.59711	0.533000	0.62120	.		0.527	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		8	496	0	0	0	1	0	8	496				
WIF1	11197	broad.mit.edu	37	12	65462686	65462686	+	Splice_Site	SNP	T	T	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:65462686T>A	ENST00000286574.4	-	4	772		c.e4-2			NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1						multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTTGAACAACTAAAAGAAAAA	0.373			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.e4-2		WNT inhibitory factor 1							77.0	70.0	72.0					12																	65462686		2203	4300	6503	SO:0001630	splice_region_variant	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65462686T>A	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.398-2A>T	12.37:g.65462686T>A			Somatic						NM_007191.4	NP_009122.2	WXS	Illumina GAIIx	Phase_I	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	4	772	-								Q6UXI1|Q8WVG4	Splice_Site	SNP	ENST00000286574.4	37		CCDS8971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.3|20.3	3.968138|3.968138	0.74131|0.74131	.|.	.|.	ENSG00000156076|ENSG00000156076	ENST00000286574;ENST00000546001|ENST00000535025	.|.	.|.	.|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71576	.|0.3356	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71122	.|-0.4684	.|4	.|.	.|.	.|.	.|.	15.5624|15.5624	0.76258|0.76258	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|V	-1|18	.|.	.|.	.|E	-|-	.|2	.|0	WIF1|WIF1	63748953|63748953	1.000000|1.000000	0.71417|0.71417	0.880000|0.880000	0.34516|0.34516	0.896000|0.896000	0.52359|0.52359	6.654000|6.654000	0.74387|0.74387	2.142000|2.142000	0.66516|0.66516	0.533000|0.533000	0.62120|0.62120	.|GAG		0.373	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2		Intron	4	97	0	0	0	1	0	4	97				
KIAA1522	57648	broad.mit.edu	37	1	33237800	33237800	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:33237800C>T	ENST00000373480.1	+	6	2946	c.2843C>T	c.(2842-2844)tCa>tTa	p.S948L	KIAA1522_ENST00000401073.2_Missense_Mutation_p.S1007L|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.S959L	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	948	Pro-rich.							p.S1007L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CGGAGCATCTCAGAGCAGCGG	0.667																																						ENST00000401073.2																			1	Substitution - Missense(1)	p.S1007L(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(3019-3021)tCa>tTa		KIAA1522							24.0	31.0	29.0					1																	33237800		1953	4156	6109	SO:0001583	missense	57648							g.chr1:33237800C>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2843C>T	1.37:g.33237800C>T	ENSP00000362579:p.Ser948Leu		Somatic				KIAA1522_ENST00000373480.1_Missense_Mutation_p.S948L|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.S959L	p.S1007L	NM_020888.2	NP_065939.2	WXS	Illumina GAIIx	Phase_I	Q9P206	K1522_HUMAN			6	3090	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	948					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.3020C>T	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368537	0.95900	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.17213	2.29;2.3;2.32	4.85	4.85	0.62838	.	0.241427	0.29572	N	0.011767	T	0.40791	0.1131	M	0.61703	1.905	0.45129	D	0.998141	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71656	0.974;0.974;0.974	T	0.21314	-1.0249	10	0.72032	D	0.01	-11.5397	18.534	0.91002	0.0:1.0:0.0:0.0	.	959;948;1007	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	L	1007;959;948	ENSP00000383851:S1007L;ENSP00000362580:S959L;ENSP00000362579:S948L	ENSP00000362579:S948L	S	+	2	0	KIAA1522	33010387	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	5.506000	0.66993	2.682000	0.91365	0.650000	0.86243	TCA		0.667	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			9	14	0	0	0	1	0	9	14				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs375512037		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCATCTGGTTTTTGAGTTTG	0.547																																						ENST00000314246.8																			0																																																			100132979							g.chr15:22709637T>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709637T>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	1147	-									RNA	SNP	ENST00000314246.8	37			.	.	.	.	.	.	.	.	.	.	t	4.705	0.131021	0.08981	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	0.921	0.19403	.	.	.	.	.	T	0.23330	0.0564	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.20773	-1.0265	6	0.25751	T	0.34	.	4.1761	0.10353	0.0:0.0:0.0:1.0	.	84	F8WBT8	.	H	84;84;302	.	ENSP00000327024:N84H	N	-	1	0	AC116165.1	20261001	0.018000	0.18449	0.020000	0.16555	0.004000	0.04260	2.215000	0.42862	0.684000	0.31448	0.228000	0.17796	AAC		0.547	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		3	249	0	0	0	1	0	3	249				
PRELID1	27166	broad.mit.edu	37	5	176733119	176733119	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:176733119C>G	ENST00000303204.4	+	4	665	c.453C>G	c.(451-453)ttC>ttG	p.F151L	RAB24_ENST00000393611.2_5'Flank|RAB24_ENST00000303251.6_5'Flank|MXD3_ENST00000427908.2_3'UTR|RAB24_ENST00000303270.6_5'Flank|PRELID1_ENST00000503216.1_Missense_Mutation_p.F151L			Q9Y255	PRLD1_HUMAN	PRELI domain containing 1	151	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				apoptotic process (GO:0006915)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of cellular respiration (GO:1901857)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of T cell apoptotic process (GO:0070234)|regulation of membrane lipid distribution (GO:0097035)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of T cell differentiation (GO:0045580)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.F151L(1)		endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGCCCGATTCAAAAGCAACG	0.498																																						ENST00000303204.4																			1	Substitution - Missense(1)	p.F151L(1)	kidney(1)	endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7						c.(451-453)ttC>ttG		PRELI domain containing 1							103.0	102.0	102.0					5																	176733119		2203	4300	6503	SO:0001583	missense	27166				immune response|multicellular organismal development	mitochondrion|nucleus		g.chr5:176733119C>G	BC013748	CCDS4415.1, CCDS64328.1	5q35.3	2010-01-18			ENSG00000169230	ENSG00000169230			30255	protein-coding gene	gene with protein product	"""protein of relevant evolutionary and lymphoid interest"", ""px19-like protein"""	605733				10784606, 14640972	Standard	NM_013237		Approved	CGI-106, PX19, PRELI	uc003mfx.4	Q9Y255	OTTHUMG00000130847	ENST00000303204.4:c.453C>G	5.37:g.176733119C>G	ENSP00000302114:p.Phe151Leu		Somatic				MXD3_ENST00000427908.2_3'UTR|PRELID1_ENST00000503216.1_Missense_Mutation_p.F151L	p.F151L			WXS	Illumina GAIIx	Phase_I	Q9Y255	PRLD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	665	+	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	151			PRELI/MSF1.		B2R5F7|D6RD25|Q549N2|Q9UI13|Q9UJS9	Missense_Mutation	SNP	ENST00000303204.4	37	c.453C>G	CCDS4415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.79|17.79	3.475682|3.475682	0.63737|0.63737	.|.	.|.	ENSG00000169230|ENSG00000169230	ENST00000303204;ENST00000503216|ENST00000503853	T;T|.	0.29397|.	1.57;1.57|.	4.27|4.27	3.1|3.1	0.35709|0.35709	PRELI/MSF1 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78304|0.78304	0.4262|0.4262	M|M	0.92169|0.92169	3.28|3.28	0.80722|0.80722	D|D	1|1	P;P|.	0.50943|.	0.94;0.885|.	P;P|.	0.58391|.	0.838;0.734|.	T|T	0.79624|0.79624	-0.1726|-0.1726	10|5	0.66056|.	D|.	0.02|.	-11.0755|-11.0755	8.1898|8.1898	0.31361|0.31361	0.0:0.7885:0.0:0.2115|0.0:0.7885:0.0:0.2115	.|.	151;151|.	D6RD25;Q9Y255|.	.;PRLD1_HUMAN|.	L|E	151|100	ENSP00000302114:F151L;ENSP00000427097:F151L|.	ENSP00000302114:F151L|.	F|Q	+|+	3|1	2|0	PRELID1|PRELID1	176665725|176665725	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.515000|0.515000	0.34225|0.34225	1.910000|1.910000	0.39927|0.39927	0.907000|0.907000	0.36646|0.36646	0.561000|0.561000	0.74099|0.74099	TTC|CAA		0.498	PRELID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253414.1	NM_013237		106	102	0	0	0	1	0	106	102				
OBSCN	84033	broad.mit.edu	37	1	228479797	228479797	+	Missense_Mutation	SNP	C	C	T	rs576775279		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:228479797C>T	ENST00000422127.1	+	39	10582	c.10538C>T	c.(10537-10539)gCg>gTg	p.A3513V	OBSCN_ENST00000366707.4_Missense_Mutation_p.A632V|OBSCN_ENST00000284548.11_Missense_Mutation_p.A3513V|OBSCN_ENST00000366709.4_Missense_Mutation_p.A632V|OBSCN_ENST00000570156.2_Missense_Mutation_p.A3942V|OBSCN_ENST00000359599.6_Missense_Mutation_p.A2360V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3513	Ig-like 35.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGCCATGGCGGACGCCGGG	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18533	0.0		0.0	False		,,,				2504	0.0					ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(11824-11826)gCg>gTg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							106.0	113.0	111.0					1																	228479797		2105	4213	6318	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228479797C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10538C>T	1.37:g.228479797C>T	ENSP00000409493:p.Ala3513Val		Somatic				OBSCN_ENST00000359599.6_Missense_Mutation_p.A2360V|OBSCN_ENST00000366709.4_Missense_Mutation_p.A632V|OBSCN_ENST00000284548.11_Missense_Mutation_p.A3513V|OBSCN_ENST00000422127.1_Missense_Mutation_p.A3513V|OBSCN_ENST00000366707.4_Missense_Mutation_p.A632V	p.A3942V	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			44	11899	+		Prostate(94;0.0405)	2980			Ig-like 40.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.11825C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136737	0.56936	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.05081	3.5;3.5;3.5;3.5;3.5	5.1	-8.51	0.00923	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.640644	0.15308	N	0.269251	T	0.12178	0.0296	L	0.53249	1.67	0.09310	N	1	D;D	0.62365	0.991;0.988	P;P	0.59357	0.856;0.611	T	0.01280	-1.1397	10	0.34782	T	0.22	.	16.0693	0.80911	0.7089:0.2339:0.0:0.0572	.	3513;3513	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	V	3513;3513;632;632;2360	ENSP00000284548:A3513V;ENSP00000409493:A3513V;ENSP00000355668:A632V;ENSP00000355670:A632V;ENSP00000352613:A2360V	ENSP00000284548:A3513V	A	+	2	0	OBSCN	226546420	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.639000	0.05446	-1.167000	0.02779	0.511000	0.50034	GCG		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	254	0	0	0	1	0	4	254				
CHST8	64377	broad.mit.edu	37	19	34262927	34262927	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:34262927C>T	ENST00000262622.4	+	4	992	c.234C>T	c.(232-234)gaC>gaT	p.D78D	CHST8_ENST00000434302.1_Silent_p.D78D|CHST8_ENST00000438847.3_Silent_p.D78D	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	78					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.D78D(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TCACTCGGGACTTATCCAGTG	0.657																																						ENST00000262622.3																			1	Substitution - coding silent(1)	p.D78D(1)	kidney(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(232-234)gaC>gaT		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							31.0	41.0	38.0					19																	34262927		2200	4299	6499	SO:0001819	synonymous_variant	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34262927C>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.234C>T	19.37:g.34262927C>T			Somatic				CHST8_ENST00000438847.2_Silent_p.D78D|CHST8_ENST00000434302.1_Silent_p.D78D	p.D78D	NM_022467.3	NP_071912.2	WXS	Illumina GAIIx	Phase_I	Q9H2A9	CHST8_HUMAN			4	992	+	Esophageal squamous(110;0.162)		78					Q9H3N2	Silent	SNP	ENST00000262622.4	37	c.234C>T	CCDS12433.1																																																																																				0.657	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		6	18	0	0	0	1	0	6	18				
PPP2R2A	5520	broad.mit.edu	37	8	26218611	26218611	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:26218611C>T	ENST00000380737.3	+	6	910	c.581C>T	c.(580-582)tCt>tTt	p.S194F	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.S204F	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	194					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		ACATATTTATCTGCAGATGAT	0.353																																						ENST00000380737.3																			0				kidney(1)|large_intestine(2)|ovary(1)	4						c.(580-582)tCt>tTt		protein phosphatase 2, regulatory subunit B, alpha							136.0	137.0	136.0					8																	26218611		2203	4300	6503	SO:0001583	missense	5520							g.chr8:26218611C>T	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.581C>T	8.37:g.26218611C>T	ENSP00000370113:p.Ser194Phe		Somatic				PPP2R2A_ENST00000315985.7_Missense_Mutation_p.S204F	p.S194F	NM_002717.3	NP_002708.1	WXS	Illumina GAIIx	Phase_I				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	6	910	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	c.581C>T	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.049120	0.93740	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.38401	1.14;1.14	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.73187	0.3555	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81741	-0.0794	10	0.87932	D	0	-7.9214	19.4786	0.95000	0.0:1.0:0.0:0.0	.	204;194	B4E1T7;P63151	.;2ABA_HUMAN	F	194;204	ENSP00000370113:S194F;ENSP00000325074:S204F	ENSP00000325074:S204F	S	+	2	0	PPP2R2A	26274528	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.686000	0.91538	0.585000	0.79938	TCT		0.353	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		4	62	0	0	0	1	0	4	62				
PAXBP1	94104	broad.mit.edu	37	21	34134523	34134523	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr21:34134523C>T	ENST00000331923.4	-	4	944	c.755G>A	c.(754-756)cGc>cAc	p.R252H	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.R252H	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	252					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCTAACAAGGCGGCCTTTACC	0.423																																						ENST00000331923.4																			0											c.(754-756)cGc>cAc		PAX3 and PAX7 binding protein 1							102.0	102.0	102.0					21																	34134523		2203	4300	6503	SO:0001583	missense	94104							g.chr21:34134523C>T	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.755G>A	21.37:g.34134523C>T	ENSP00000328992:p.Arg252His		Somatic				PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.R252H	p.R252H	NM_016631.3	NP_057715.2	WXS	Illumina GAIIx	Phase_I					4	944	-								D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.755G>A	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830311	0.91036	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.38077	1.56;1.16	5.63	5.63	0.86233	.	0.110150	0.56097	D	0.000030	T	0.42899	0.1223	M	0.64997	1.995	0.80722	D	1	P;D	0.56968	0.925;0.978	B;B	0.43052	0.406;0.299	T	0.48670	-0.9015	10	0.72032	D	0.01	-9.0418	19.2824	0.94057	0.0:1.0:0.0:0.0	.	252;252	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	H	252	ENSP00000328992:R252H;ENSP00000290178:R252H	ENSP00000290178:R252H	R	-	2	0	GCFC1	33056394	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.757000	0.68766	2.650000	0.89964	0.557000	0.71058	CGC		0.423	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		4	124	0	0	0	1	0	4	124				
FAM111B	374393	broad.mit.edu	37	11	58893286	58893286	+	Silent	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:58893286T>G	ENST00000343597.3	+	4	1907	c.1716T>G	c.(1714-1716)ggT>ggG	p.G572G	FAM111B_ENST00000411426.1_Silent_p.G542G|FAM111B_ENST00000529618.1_Silent_p.G542G	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	572							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CATCTACTGGTTTGATTTATT	0.353																																						ENST00000343597.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(1714-1716)ggT>ggG		family with sequence similarity 111, member B							106.0	99.0	101.0					11																	58893286		2201	4294	6495	SO:0001819	synonymous_variant	374393						catalytic activity	g.chr11:58893286T>G	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1716T>G	11.37:g.58893286T>G			Somatic				FAM111B_ENST00000529618.1_Silent_p.G542G|FAM111B_ENST00000411426.1_Silent_p.G542G	p.G572G	NM_198947.3	NP_945185.1	WXS	Illumina GAIIx	Phase_I	Q6SJ93	F111B_HUMAN			4	1907	+			572					B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	c.1716T>G	CCDS7972.1																																																																																				0.353	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		8	159	0	0	0	1	0	8	159				
FXYD2	486	broad.mit.edu	37	11	117691582	117691582	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:117691582C>T	ENST00000292079.2	-	4	233	c.168G>A	c.(166-168)aaG>aaA	p.K56K	FXYD6-FXYD2_ENST00000532984.1_3'UTR|FXYD2_ENST00000260287.2_Silent_p.K54K|FXYD2_ENST00000514385.1_5'Flank|RP11-728F11.3_ENST00000596805.1_RNA|FXYD2_ENST00000532119.1_Silent_p.K54K|FXYD2_ENST00000528014.1_Silent_p.K54K|RP11-728F11.3_ENST00000531850.2_RNA	NM_001680.4	NP_001671.2	P54710	ATNG_HUMAN	FXYD domain containing ion transport regulator 2	56					ion transmembrane transport (GO:0034220)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ion channel activity (GO:0005216)|sodium:potassium-exchanging ATPase activity (GO:0005391)|transporter activity (GO:0005215)			breast(1)|kidney(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;2.83e-05)|Epithelial(105;0.00114)	Cyclothiazide(DB00606)	ACCTGCGCTTCTTATTGCCCC	0.532																																						ENST00000528014.1																			0				breast(1)|kidney(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(160-162)aaG>aaA		FXYD domain containing ion transport regulator 2							102.0	121.0	115.0					11																	117691582		2201	4296	6497	SO:0001819	synonymous_variant	486							g.chr11:117691582C>T	AF241236	CCDS8385.1, CCDS8386.1	11q23	2008-02-05	2003-02-28						4026	protein-coding gene	gene with protein product		601814	"""hypomagnesemia 2, renal"""	ATP1G1, HOMG2		9048881, 9915957	Standard	NM_021603		Approved	MGC12372		P54710		ENST00000292079.2:c.168G>A	11.37:g.117691582C>T			Somatic				FXYD2_ENST00000532119.1_Silent_p.K54K|FXYD6-FXYD2_ENST00000532984.1_3'UTR|FXYD2_ENST00000260287.2_Silent_p.K54K|RP11-728F11.3_ENST00000596805.1_RNA|FXYD2_ENST00000292079.2_Silent_p.K56K|RP11-728F11.3_ENST00000531850.2_RNA	p.K54K			WXS	Illumina GAIIx	Phase_I				BRCA - Breast invasive adenocarcinoma(274;2.83e-05)|Epithelial(105;0.00114)	5	329	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)						Q15332|Q53YC1|Q9GZP3|Q9GZQ7	Silent	SNP	ENST00000292079.2	37	c.162G>A	CCDS8386.1																																																																																				0.532	FXYD2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390050.1	NM_021603		4	48	0	0	0	1	0	4	48				
GART	2618	broad.mit.edu	37	21	34889913	34889913	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr21:34889913C>T	ENST00000381831.3	-	15	1968	c.1705G>A	c.(1705-1707)Ggt>Agt	p.G569S	GART_ENST00000543717.1_Missense_Mutation_p.G121S|GART_ENST00000381839.3_Missense_Mutation_p.G569S|GART_ENST00000381815.4_Missense_Mutation_p.G569S	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	569	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GCTGTTTCACCTCCTGGTGGG	0.458																																						ENST00000381831.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31						c.(1705-1707)Ggt>Agt		phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	Pemetrexed(DB00642)						89.0	92.0	91.0					21																	34889913		2203	4300	6503	SO:0001583	missense	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34889913C>T	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.1705G>A	21.37:g.34889913C>T	ENSP00000371253:p.Gly569Ser		Somatic				GART_ENST00000543717.1_Missense_Mutation_p.G121S|GART_ENST00000381815.4_Missense_Mutation_p.G569S|GART_ENST00000381839.3_Missense_Mutation_p.G569S	p.G569S	NM_001136005.1	NP_001129477.1	WXS	Illumina GAIIx	Phase_I	P22102	PUR2_HUMAN			15	1968	-			569			AIRS.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	c.1705G>A	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459884	0.96240	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	5.67	5.67	0.87782	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.000000	0.85682	D	0.000000	D	0.96873	0.8979	H	0.98849	4.35	0.80722	D	1	D	0.53885	0.963	P	0.60473	0.875	D	0.98043	1.0383	10	0.72032	D	0.01	-18.3277	19.7782	0.96405	0.0:1.0:0.0:0.0	.	569	P22102	PUR2_HUMAN	S	569;569;569;121	ENSP00000371236:G569S;ENSP00000371253:G569S;ENSP00000371261:G569S;ENSP00000443579:G121S	ENSP00000371236:G569S	G	-	1	0	GART	33811783	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.277000	0.58939	2.667000	0.90743	0.561000	0.74099	GGT		0.458	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		4	232	0	0	0	1	0	4	232				
TMEM131	23505	broad.mit.edu	37	2	98418894	98418894	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:98418894G>A	ENST00000186436.5	-	24	2876	c.2648C>T	c.(2647-2649)tCa>tTa	p.S883L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	883						integral component of membrane (GO:0016021)		p.S770L(1)|p.S883L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TACTTACCTTGATACTAACTT	0.328																																						ENST00000186436.5																			2	Substitution - Missense(2)	p.S770L(1)|p.S883L(1)	kidney(2)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(2647-2649)tCa>tTa		transmembrane protein 131							95.0	90.0	91.0					2																	98418894		1837	4089	5926	SO:0001583	missense	23505					integral to membrane		g.chr2:98418894G>A	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2648C>T	2.37:g.98418894G>A	ENSP00000186436:p.Ser883Leu		Somatic					p.S883L	NM_015348.1	NP_056163.1	WXS	Illumina GAIIx	Phase_I	Q92545	TM131_HUMAN			24	2876	-			883						Missense_Mutation	SNP	ENST00000186436.5	37	c.2648C>T	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213766	0.39102	.	.	ENSG00000075568	ENST00000186436	T	0.32515	1.45	5.97	5.02	0.67125	.	0.292243	0.36932	N	0.002325	T	0.15869	0.0382	N	0.08118	0	0.80722	D	1	B	0.31125	0.309	B	0.29785	0.107	T	0.09335	-1.0679	10	0.29301	T	0.29	.	11.7237	0.51698	0.0:0.0:0.6236:0.3764	.	883	Q92545	TM131_HUMAN	L	883	ENSP00000186436:S883L	ENSP00000186436:S883L	S	-	2	0	TMEM131	97785326	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	5.420000	0.66441	2.835000	0.97688	0.591000	0.81541	TCA		0.328	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		26	50	0	0	0	1	0	26	50				
KIAA1191	57179	broad.mit.edu	37	5	175782659	175782659	+	Missense_Mutation	SNP	G	G	A	rs138102670	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:175782659G>A	ENST00000298569.4	-	4	655	c.122C>T	c.(121-123)gCg>gTg	p.A41V	RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393725.2_Missense_Mutation_p.A22V|KIAA1191_ENST00000510164.1_Missense_Mutation_p.A41V|KIAA1191_ENST00000393728.2_Intron|KIAA1191_ENST00000533553.1_Intron|RP11-843P14.1_ENST00000512934.1_RNA	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	41						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		AGTCATGGGCGCAGGGTCCTC	0.582													G|||	5	0.000998403	0.0038	0.0	5008	,	,		16565	0.0		0.0	False		,,,				2504	0.0					ENST00000298569.4																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(121-123)gCg>gTg		KIAA1191		G	VAL/ALA,VAL/ALA,VAL/ALA	5,4401	9.9+/-24.2	0,5,2198	104.0	89.0	94.0		65,122,122	5.1	0.6	5	dbSNP_134	94	0,8600		0,0,4300	no	missense,missense,missense	KIAA1191	NM_001079684.1,NM_001079685.1,NM_020444.3	64,64,64	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign,benign,benign	22/287,41/306,41/306	175782659	5,13001	2203	4300	6503	SO:0001583	missense	57179						protein binding	g.chr5:175782659G>A	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.122C>T	5.37:g.175782659G>A	ENSP00000298569:p.Ala41Val		Somatic				KIAA1191_ENST00000393725.2_Missense_Mutation_p.A22V|KIAA1191_ENST00000393728.2_Intron|KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000510164.1_Missense_Mutation_p.A41V|RP11-843P14.1_ENST00000512934.1_RNA	p.A41V	NM_020444.3	NP_065177.2	WXS	Illumina GAIIx	Phase_I	Q96A73	K1191_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)	4	655	-	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	41					B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Missense_Mutation	SNP	ENST00000298569.4	37	c.122C>T	CCDS4399.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072669	0.55646	0.001135	0.0	ENSG00000122203	ENST00000298569;ENST00000393725;ENST00000510164;ENST00000506983;ENST00000503082;ENST00000504688	.	.	.	5.07	5.07	0.68467	.	0.355758	0.32703	N	0.005749	T	0.62429	0.2427	M	0.66939	2.045	0.80722	D	1	B	0.31209	0.313	B	0.25506	0.061	T	0.66544	-0.5897	9	0.72032	D	0.01	-1.6187	18.8135	0.92068	0.0:0.0:1.0:0.0	.	41	Q96A73	K1191_HUMAN	V	41;22;41;22;22;22	.	ENSP00000298569:A41V	A	-	2	0	KIAA1191	175715265	0.989000	0.36119	0.563000	0.28383	0.987000	0.75469	6.846000	0.75399	2.516000	0.84829	0.591000	0.81541	GCG		0.582	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		5	590	0	0	0	1	0	5	590				
SCGB2B2	284402	broad.mit.edu	37	19	35085113	35085113	+	Silent	SNP	G	G	T	rs139007213		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:35085113G>T	ENST00000601241.1	-	3	2313	c.213C>A	c.(211-213)tcC>tcA	p.S71S	SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Silent_p.S71S			Q4G0G5	SC2B2_HUMAN	secretoglobin, family 2B, member 2	71						extracellular region (GO:0005576)											TTTCTGTCACGGAGACATTGG	0.542																																						ENST00000601241.1																			0											c.(211-213)tcC>tcA		secretoglobin, family 2B, member 2							115.0	99.0	104.0					19																	35085113		2203	4300	6503	SO:0001819	synonymous_variant	284402					extracellular region	binding	g.chr19:35085113G>T	AK093495	CCDS32989.1	19q13.12	2011-12-14	2011-12-14	2011-12-14	ENSG00000205209	ENSG00000205209		"""Secretoglobins"""	27616	protein-coding gene	gene with protein product		615063	"""secretoglobin-like"""	SCGBL		22155607	Standard	NM_001025591		Approved	SCGB4A2	uc002nvn.3	Q4G0G5		ENST00000601241.1:c.213C>A	19.37:g.35085113G>T			Somatic				SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Silent_p.S71S	p.S71S			WXS	Illumina GAIIx	Phase_I	Q4G0G5	SCGBL_HUMAN			3	2313	-			71						Silent	SNP	ENST00000601241.1	37	c.213C>A	CCDS32989.1																																																																																				0.542	SCGB2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461457.2	NM_001025591		8	386	1	0	0.000442599	1	0.000452363	8	386				
TCHHL1	126637	broad.mit.edu	37	1	152058807	152058807	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152058807C>T	ENST00000368806.1	-	3	1415	c.1351G>A	c.(1351-1353)Gga>Aga	p.G451R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	451							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGATCTCCTCCTTCTGAGCTT	0.443																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(1351-1353)Gga>Aga		trichohyalin-like 1							233.0	219.0	224.0					1																	152058807		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152058807C>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1351G>A	1.37:g.152058807C>T	ENSP00000357796:p.Gly451Arg		Somatic					p.G451R	NM_001008536.1	NP_001008536.1	WXS	Illumina GAIIx	Phase_I	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1415	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		451					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.1351G>A	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	18.51	3.638870	0.67130	.	.	ENSG00000182898	ENST00000368806	T	0.24350	1.86	5.59	4.68	0.58851	.	0.875879	0.09504	N	0.793202	T	0.07908	0.0198	L	0.46157	1.445	0.09310	N	1	P	0.40931	0.733	B	0.32342	0.144	T	0.16600	-1.0397	10	0.17369	T	0.5	-1.7415	10.6078	0.45404	0.0:0.9111:0.0:0.0889	.	451	Q5QJ38	TCHL1_HUMAN	R	451	ENSP00000357796:G451R	ENSP00000357796:G451R	G	-	1	0	TCHHL1	150325431	0.017000	0.18338	0.075000	0.20258	0.220000	0.24768	0.391000	0.20784	1.368000	0.46115	0.650000	0.86243	GGA		0.443	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		10	824	0	0	0	1	0	10	824				
ASTN1	460	broad.mit.edu	37	1	176903353	176903353	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:176903353G>C	ENST00000367654.3	-	16	2841	c.2630C>G	c.(2629-2631)tCt>tGt	p.S877C	ASTN1_ENST00000281881.3_5'Flank|ASTN1_ENST00000367657.3_Missense_Mutation_p.S869C|ASTN1_ENST00000424564.2_Missense_Mutation_p.S869C|ASTN1_ENST00000361833.2_Missense_Mutation_p.S869C	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	877					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTACCAGATAGAACAGGACTC	0.512																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(2629-2631)tCt>tGt		astrotactin 1							123.0	100.0	107.0					1																	176903353		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176903353G>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2630C>G	1.37:g.176903353G>C	ENSP00000356626:p.Ser877Cys		Somatic				ASTN1_ENST00000367657.3_Missense_Mutation_p.S869C|ASTN1_ENST00000424564.2_Missense_Mutation_p.S869C|ASTN1_ENST00000361833.2_Missense_Mutation_p.S869C	p.S877C			WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			16	2643	-			877					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2630C>G		.	.	.	.	.	.	.	.	.	.	G	28.3	4.909391	0.92107	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.91	5.91	0.95273	.	0.048321	0.85682	D	0.000000	T	0.57227	0.2039	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.67145	0.996;0.996	P;P	0.61592	0.891;0.891	T	0.56025	-0.8047	10	0.52906	T	0.07	-22.3286	19.8936	0.96942	0.0:0.0:1.0:0.0	.	869;869	O14525-2;B1AJS1	.;.	C	869;869;877;869;869	ENSP00000356629:S869C;ENSP00000354536:S869C;ENSP00000356626:S877C;ENSP00000395041:S869C	ENSP00000354536:S869C	S	-	2	0	ASTN1	175169976	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	7.289000	0.78701	2.793000	0.96121	0.655000	0.94253	TCT		0.512	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		4	378	0	0	0	1	0	4	378				
SLC4A4	8671	broad.mit.edu	37	4	72420855	72420855	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:72420855A>T	ENST00000264485.5	+	21	2811		c.e21-1		SLC4A4_ENST00000340595.3_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site|SLC4A4_ENST00000425175.1_Splice_Site	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TTTTCCTTCTAGTTTATACCC	0.323																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.e18-1		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							224.0	228.0	227.0					4																	72420855		2203	4300	6503	SO:0001630	splice_region_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72420855A>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2695-1A>T	4.37:g.72420855A>T			Somatic				SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site|SLC4A4_ENST00000264485.5_Splice_Site		NM_003759.3	NP_003750.1	WXS	Illumina GAIIx	Phase_I	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		18	2758	+								C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Splice_Site	SNP	ENST00000264485.5	37		CCDS43236.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281305	0.80692	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3473	0.83146	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A4	72639719	1.000000	0.71417	0.994000	0.49952	0.795000	0.44927	9.253000	0.95501	2.320000	0.78422	0.528000	0.53228	.		0.323	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	Intron	6	267	0	0	0	1	0	6	267				
THOC2	57187	broad.mit.edu	37	X	122758390	122758390	+	Splice_Site	SNP	A	A	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chrX:122758390A>G	ENST00000245838.8	-	26	3218		c.e26+1		THOC2_ENST00000355725.4_Splice_Site|THOC2_ENST00000491737.1_Splice_Site	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2						mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.?(2)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TATTAGTCATACCTTTTCATA	0.358																																						ENST00000245838.8																			2	Unknown(2)	p.?(2)	kidney(2)	breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.e26+1		THO complex 2							155.0	143.0	147.0					X																	122758390		1863	4080	5943	SO:0001630	splice_region_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122758390A>G	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3186+1T>C	X.37:g.122758390A>G			Somatic				THOC2_ENST00000355725.4_Splice_Site|THOC2_ENST00000491737.1_Splice_Site		NM_001081550.1	NP_001075019.1	WXS	Illumina GAIIx	Phase_I	Q8NI27	THOC2_HUMAN			26	3218	-								A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Splice_Site	SNP	ENST00000245838.8	37		CCDS43988.1	.	.	.	.	.	.	.	.	.	.	A	8.590	0.884327	0.17467	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000438358	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4951	0.67680	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	THOC2	122586071	1.000000	0.71417	0.996000	0.52242	0.246000	0.25737	9.339000	0.96797	1.802000	0.52723	0.486000	0.48141	.		0.358	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		Intron	81	42	0	0	0	1	0	81	42				
MYO5A	4644	broad.mit.edu	37	15	52646191	52646191	+	Silent	SNP	T	T	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:52646191T>G	ENST00000399231.3	-	26	3687	c.3444A>C	c.(3442-3444)gtA>gtC	p.V1148V	MYO5A_ENST00000358212.6_Silent_p.V1148V|MYO5A_ENST00000553916.1_Silent_p.V1148V|MYO5A_ENST00000356338.6_Silent_p.V1148V|MYO5A_ENST00000399233.2_Silent_p.V1148V	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1148					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.V1148V(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGTCCAGAGGTACCTTCTTCT	0.488																																						ENST00000399231.3																			1	Substitution - coding silent(1)	p.V1148V(1)	kidney(1)	breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(3442-3444)gtA>gtC		myosin VA (heavy chain 12, myoxin)							101.0	104.0	103.0					15																	52646191		1988	4171	6159	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52646191T>G		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3444A>C	15.37:g.52646191T>G			Somatic				MYO5A_ENST00000358212.6_Silent_p.V1148V|MYO5A_ENST00000356338.6_Silent_p.V1148V|MYO5A_ENST00000399233.2_Silent_p.V1148V|MYO5A_ENST00000553916.1_Silent_p.V1148V	p.V1148V	NM_000259.3	NP_000250.3	WXS	Illumina GAIIx	Phase_I	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	26	3687	-			1148					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.3444A>C	CCDS42037.1																																																																																				0.488	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		57	110	0	0	0	1	0	57	110				
CWF19L1	55280	broad.mit.edu	37	10	102006678	102006678	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:102006678G>A	ENST00000354105.4	-	8	809	c.723C>T	c.(721-723)ttC>ttT	p.F241F	CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_5'Flank	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	241							catalytic activity (GO:0003824)	p.F241F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GAACAATACTGAACGCGTAAA	0.393																																						ENST00000354105.4																			1	Substitution - coding silent(1)	p.F241F(1)	kidney(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17						c.(721-723)ttC>ttT		CWF19-like 1, cell cycle control (S. pombe)							75.0	68.0	71.0					10																	102006678		2203	4300	6503	SO:0001819	synonymous_variant	55280						catalytic activity	g.chr10:102006678G>A	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.723C>T	10.37:g.102006678G>A			Somatic				CWF19L1_ENST00000478047.1_Intron	p.F241F	NM_018294.4	NP_060764.3	WXS	Illumina GAIIx	Phase_I	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	8	809	-		Colorectal(252;0.117)	241					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Silent	SNP	ENST00000354105.4	37	c.723C>T	CCDS7489.1																																																																																				0.393	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		28	21	0	0	0	1	0	28	21				
SIPA1	6494	broad.mit.edu	37	11	65413812	65413812	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:65413812C>T	ENST00000394224.3	+	7	1680	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	SIPA1_ENST00000394227.3_Missense_Mutation_p.R462W|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Missense_Mutation_p.R462W|SIPA1_ENST00000527525.1_Missense_Mutation_p.R462W	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	462	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CCTAGTGGTGCGGGCACACAC	0.642																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(1384-1386)Cgg>Tgg		signal-induced proliferation-associated 1							93.0	78.0	83.0					11																	65413812		2201	4297	6498	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65413812C>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.1384C>T	11.37:g.65413812C>T	ENSP00000377771:p.Arg462Trp		Somatic				SIPA1_ENST00000534313.1_Missense_Mutation_p.R462W|SIPA1_ENST00000394227.3_Missense_Mutation_p.R462W|SIPA1_ENST00000527525.1_Missense_Mutation_p.R462W	p.R462W	NM_153253.29	NP_694985.29	WXS	Illumina GAIIx	Phase_I	Q96FS4	SIPA1_HUMAN			7	1680	+			462			Rap-GAP.		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.1384C>T	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869343	0.51588	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35	4.03	3.12	0.35913	Rap/ran-GAP (2);	0.255725	0.25645	U	0.029253	D	0.95822	0.8640	M	0.92219	3.285	0.45690	D	0.998607	D;D	0.69078	0.997;0.988	P;P	0.54401	0.707;0.751	D	0.95400	0.8489	10	0.87932	D	0	-10.117	9.3459	0.38109	0.3895:0.6105:0.0:0.0	.	462;462	F6RY50;Q96FS4	.;SIPA1_HUMAN	W	462	ENSP00000436269:R462W;ENSP00000433686:R462W;ENSP00000377771:R462W;ENSP00000377774:R462W	ENSP00000377771:R462W	R	+	1	2	SIPA1	65170388	0.117000	0.22190	0.903000	0.35520	0.095000	0.18619	1.008000	0.29872	1.063000	0.40649	-0.372000	0.07161	CGG		0.642	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		3	60	0	0	0	1	0	3	60				
DDX39B	7919	broad.mit.edu	37	6	31503131	31503131	+	Intron	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:31503131G>A	ENST00000396172.1	-	6	1366				DDX39B_ENST00000415382.2_Intron|DDX39B_ENST00000376177.2_Intron|DDX39B_ENST00000458640.1_Intron|SNORD117_ENST00000364915.1_RNA|ATP6V1G2-DDX39B_ENST00000376185.1_Intron|DDX39B_ENST00000453105.2_Silent_p.L203L|DDX39B_ENST00000417556.2_Intron	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B						ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						agagaaggtagaagggTATTT	0.562																																						ENST00000453105.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(607-609)Cta>Tta		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B							217.0	131.0	162.0					6																	31503131		1511	2709	4220	SO:0001627	intron_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31503131G>A	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.735+12C>T	6.37:g.31503131G>A			Somatic				DDX39B_ENST00000417556.2_Intron|DDX39B_ENST00000458640.1_Intron|ATP6V1G2-DDX39B_ENST00000376185.1_Intron|DDX39B_ENST00000376177.2_Intron|DDX39B_ENST00000396172.1_Intron|DDX39B_ENST00000415382.2_Intron	p.L203L			WXS	Illumina GAIIx	Phase_I	Q13838	DX39B_HUMAN			5	793	-			0			Helicase ATP-binding.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Silent	SNP	ENST00000396172.1	37	c.607C>T	CCDS4697.1																																																																																				0.562	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		9	299	0	0	0	1	0	9	299				
LAMP5	24141	broad.mit.edu	37	20	9498720	9498720	+	Missense_Mutation	SNP	C	C	T	rs551662654		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:9498720C>T	ENST00000246070.2	+	5	1001	c.509C>T	c.(508-510)tCt>tTt	p.S170F	LAMP5_ENST00000427562.2_Missense_Mutation_p.S126F	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	170						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											CACCACCTCTCTGCCTTGGTC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		17945	0.0		0.0	False		,,,				2504	0.001					ENST00000246070.2																			0											c.(508-510)tCt>tTt		lysosomal-associated membrane protein family, member 5							110.0	86.0	94.0					20																	9498720		2203	4300	6503	SO:0001583	missense	24141					integral to membrane		g.chr20:9498720C>T	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.509C>T	20.37:g.9498720C>T	ENSP00000246070:p.Ser170Phe		Somatic				LAMP5_ENST00000427562.2_Missense_Mutation_p.S126F	p.S170F	NM_012261.3	NP_036393.1	WXS	Illumina GAIIx	Phase_I	Q9UJQ1	CT103_HUMAN			5	1001	+			170					B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	c.509C>T	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219262	0.79464	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.36878	1.23;1.23	5.93	5.93	0.95920	.	0.103994	0.64402	D	0.000002	T	0.43033	0.1229	L	0.29908	0.895	0.80722	D	1	P;P	0.41188	0.741;0.457	P;B	0.50934	0.654;0.343	T	0.03534	-1.1027	9	.	.	.	-12.6708	20.3539	0.98825	0.0:1.0:0.0:0.0	.	126;170	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	F	170;126	ENSP00000246070:S170F;ENSP00000406360:S126F	.	S	+	2	0	C20orf103	9446720	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.361000	0.79497	2.826000	0.97356	0.655000	0.94253	TCT		0.532	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		6	184	0	0	0	1	0	6	184				
IZUMO2	126123	broad.mit.edu	37	19	50657881	50657881	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:50657881A>C	ENST00000293405.3	-	6	599	c.599T>G	c.(598-600)tTt>tGt	p.F200C		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	200						integral component of membrane (GO:0016021)		p.F200C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CACGAAGACAAAGACAGCCAG	0.602																																						ENST00000293405.3																			1	Substitution - Missense(1)	p.F200C(1)	kidney(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(598-600)tTt>tGt		IZUMO family member 2							134.0	155.0	148.0					19																	50657881		2130	4237	6367	SO:0001583	missense	126123					integral to membrane		g.chr19:50657881A>C	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.599T>G	19.37:g.50657881A>C	ENSP00000293405:p.Phe200Cys		Somatic					p.F200C	NM_152358.2	NP_689571.2	WXS	Illumina GAIIx	Phase_I	Q6UXV1	IZUM2_HUMAN			6	599	-			200					Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	c.599T>G	CCDS12792.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.18|13.18	2.158760|2.158760	0.38119|0.38119	.|.	.|.	ENSG00000161652|ENSG00000161652	ENST00000293405|ENST00000377000	T|.	0.44881|.	0.91|.	3.32|3.32	3.32|3.32	0.38043|0.38043	.|.	.|1.397510	.|0.05177	.|N	.|0.500501	T|T	0.36908|0.36908	0.0984|0.0984	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	D|.	0.61697|.	0.99|.	P|.	0.53450|.	0.726|.	T|T	0.40421|0.40421	-0.9564|-0.9564	9|7	0.87932|0.87932	D|D	0|0	.|.	8.325|8.325	0.32151|0.32151	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	200|.	Q6UXV1|.	IZUM2_HUMAN|.	C|V	200|165	ENSP00000293405:F200C|.	ENSP00000293405:F200C|ENSP00000366199:L165V	F|L	-|-	2|1	0|2	IZUMO2|IZUMO2	55349693|55349693	0.011000|0.011000	0.17503|0.17503	0.007000|0.007000	0.13788|0.13788	0.013000|0.013000	0.08279|0.08279	3.325000|3.325000	0.52030|0.52030	1.746000|1.746000	0.51805|0.51805	0.254000|0.254000	0.18369|0.18369	TTT|TTG		0.602	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		123	195	0	0	0	1	0	123	195				
MT1X	4501	broad.mit.edu	37	16	56717132	56717132	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:56717132C>T	ENST00000394485.4	+	2	201	c.84C>T	c.(82-84)tcC>tcT	p.S28S	RP11-343H19.2_ENST00000567563.1_RNA|MT1X_ENST00000562939.1_Silent_p.S28S	NM_005952.3	NP_005943.1	P80297	MT1X_HUMAN	metallothionein 1X	28	Beta.				cellular response to cadmium ion (GO:0071276)|cellular response to erythropoietin (GO:0036018)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)|response to metal ion (GO:0010038)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(2)	2						AATGCACCTCCTGCAAGAAGA	0.577																																						ENST00000562939.1																			0				kidney(2)	2						c.(82-84)tcC>tcT		metallothionein 1X							90.0	80.0	83.0					16																	56717132		2198	4300	6498	SO:0001819	synonymous_variant	4501				response to metal ion		metal ion binding	g.chr16:56717132C>T	BC032338	CCDS10768.1	16q13	2010-10-20			ENSG00000187193	ENSG00000187193		"""Metallothioneins"""	7405	protein-coding gene	gene with protein product		156359		MT1		2286373, 8049263	Standard	NM_005952		Approved	MT-1l	uc002ejy.3	P80297	OTTHUMG00000133280	ENST00000394485.4:c.84C>T	16.37:g.56717132C>T			Somatic				MT1X_ENST00000394485.4_Silent_p.S28S|RP11-343H19.2_ENST00000567563.1_RNA	p.S28S			WXS	Illumina GAIIx	Phase_I	P80297	MT1X_HUMAN			2	155	+			28			Beta.		A8MUC7	Silent	SNP	ENST00000394485.4	37	c.84C>T	CCDS10768.1																																																																																				0.577	MT1X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257060.1	NM_005952		7	122	0	0	0	1	0	7	122				
TMEM116	89894	broad.mit.edu	37	12	112381091	112381091	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:112381091C>G	ENST00000550831.3	-	4	385	c.17G>C	c.(16-18)aGt>aCt	p.S6T	TMEM116_ENST00000437003.2_Missense_Mutation_p.S6T|TMEM116_ENST00000355445.3_Intron|TMEM116_ENST00000354825.3_Missense_Mutation_p.S6T|TMEM116_ENST00000549537.2_5'UTR|TMEM116_ENST00000552374.2_Missense_Mutation_p.S98T	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	6						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						GCTCTGTCCACTCTGGGTGTG	0.423																																						ENST00000354825.3																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						c.(16-18)aGt>aCt		transmembrane protein 116							180.0	165.0	170.0					12																	112381091		2203	4300	6503	SO:0001583	missense	89894					integral to membrane		g.chr12:112381091C>G	AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000550831.3:c.17G>C	12.37:g.112381091C>G	ENSP00000450377:p.Ser6Thr		Somatic				TMEM116_ENST00000355445.3_Intron|TMEM116_ENST00000552374.2_Missense_Mutation_p.S98T|TMEM116_ENST00000549537.2_5'UTR|TMEM116_ENST00000550831.3_Missense_Mutation_p.S6T|TMEM116_ENST00000437003.2_Missense_Mutation_p.S6T	p.S6T			WXS	Illumina GAIIx	Phase_I	Q8NCL8	TM116_HUMAN			7	672	-			6					G3V1W7|G5E985|Q6NSH5|Q8IZ66	Missense_Mutation	SNP	ENST00000550831.3	37	c.17G>C	CCDS9157.1	.	.	.	.	.	.	.	.	.	.	c	7.271	0.607196	0.14002	.	.	ENSG00000198270	ENST00000354825;ENST00000550831;ENST00000437003;ENST00000552374;ENST00000550037;ENST00000549425	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.22	0.731	0.18277	.	.	.	.	.	T	0.28797	0.0714	L	0.47716	1.5	0.20307	N	0.999913	P;B;B	0.37330	0.59;0.275;0.135	B;B;B	0.30782	0.118;0.12;0.12	T	0.10359	-1.0633	9	0.34782	T	0.22	.	6.213	0.20640	0.0:0.4913:0.0:0.5087	.	98;98;6	F8VNZ8;G3V1W7;Q8NCL8	.;.;TM116_HUMAN	T	6;6;6;98;98;98	ENSP00000346883:S6T;ENSP00000450377:S6T;ENSP00000395861:S6T;ENSP00000447731:S98T;ENSP00000446516:S98T;ENSP00000449774:S98T	ENSP00000346883:S6T	S	-	2	0	TMEM116	110865474	0.161000	0.22892	0.105000	0.21289	0.660000	0.38997	0.244000	0.18124	0.220000	0.20860	0.305000	0.20034	AGT		0.423	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341		11	328	0	0	0	1	0	11	328				
DOK6	220164	broad.mit.edu	37	18	67345001	67345001	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr18:67345001C>T	ENST00000382713.5	+	4	511	c.321C>T	c.(319-321)ctC>ctT	p.L107L	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	107	PH.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GCAAGCACCTCTGCATGGAGT	0.537																																						ENST00000382713.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20						c.(319-321)ctC>ctT		docking protein 6							122.0	112.0	115.0					18																	67345001		2203	4300	6503	SO:0001819	synonymous_variant	220164						insulin receptor binding	g.chr18:67345001C>T	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.321C>T	18.37:g.67345001C>T			Somatic				DOK6_ENST00000584435.1_3'UTR	p.L107L	NM_152721.5	NP_689934.2	WXS	Illumina GAIIx	Phase_I	Q6PKX4	DOK6_HUMAN			4	511	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	107			PH.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Silent	SNP	ENST00000382713.5	37	c.321C>T	CCDS32841.1																																																																																				0.537	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		20	192	0	0	0	1	0	20	192				
MUL1	79594	broad.mit.edu	37	1	20828602	20828602	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:20828602G>A	ENST00000264198.3	-	3	425	c.289C>T	c.(289-291)Cag>Tag	p.Q97*		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	97					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TTGTGCTCCTGAAGTGTCAGC	0.478																																						ENST00000264198.3																			0				endometrium(2)|large_intestine(4)|lung(5)	11						c.(289-291)Cag>Tag		mitochondrial E3 ubiquitin protein ligase 1							140.0	135.0	137.0					1																	20828602		2203	4300	6503	SO:0001587	stop_gained	79594				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:20828602G>A	BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"""RING-type (C3HC4) zinc fingers"""	25762	protein-coding gene	gene with protein product	"""ring finger protein 218"", ""mitochondria-anchored protein ligase"", ""growth inhibition and death E3 ligase"", ""mitochondrial ubiquitin ligase activator of NFKB 1"""	612037	"""chromosome 1 open reading frame 166"""	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.289C>T	1.37:g.20828602G>A	ENSP00000264198:p.Gln97*		Somatic					p.Q97*	NM_024544.2	NP_078820.2	WXS	Illumina GAIIx	Phase_I	Q969V5	MUL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	425	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	97					B5M497|Q7Z431|Q9H9B5	Nonsense_Mutation	SNP	ENST00000264198.3	37	c.289C>T	CCDS208.1	.	.	.	.	.	.	.	.	.	.	G	37	6.333452	0.97480	.	.	ENSG00000090432	ENST00000264198	.	.	.	6.17	6.17	0.99709	.	0.095191	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-40.1409	13.211	0.59825	0.0:0.0:0.8411:0.1589	.	.	.	.	X	97	.	ENSP00000264198:Q97X	Q	-	1	0	MUL1	20701189	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.749000	0.55150	2.941000	0.99782	0.655000	0.94253	CAG		0.478	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544		4	114	0	0	0	1	0	4	114				
EFR3A	23167	broad.mit.edu	37	8	132962214	132962214	+	Splice_Site	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:132962214A>T	ENST00000254624.5	+	5	591		c.e5-1		EFR3A_ENST00000334503.4_Splice_Site|EFR3A_ENST00000519656.1_Splice_Site	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)							extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TGTGTTTTTTAGTTTGTCAAA	0.308																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.e5-1		EFR3 homolog A (S. cerevisiae)							60.0	54.0	56.0					8																	132962214		2202	4299	6501	SO:0001630	splice_region_variant	23167					plasma membrane	binding	g.chr8:132962214A>T	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.367-1A>T	8.37:g.132962214A>T			Somatic				EFR3A_ENST00000519656.1_Splice_Site|EFR3A_ENST00000334503.4_Splice_Site		NM_015137.4	NP_055952.2	WXS	Illumina GAIIx	Phase_I	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		5	591	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)							A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Splice_Site	SNP	ENST00000254624.5	37		CCDS34942.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.059397	0.76074	.	.	ENSG00000132294	ENST00000254624;ENST00000522709;ENST00000377917;ENST00000334503;ENST00000519656	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8088	0.69977	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EFR3A	133031396	1.000000	0.71417	0.976000	0.42696	0.866000	0.49608	7.486000	0.81215	2.082000	0.62665	0.455000	0.32223	.		0.308	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137	Intron	5	20	0	0	0	1	0	5	20				
BIRC6	57448	broad.mit.edu	37	2	32740067	32740067	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:32740067A>T	ENST00000421745.2	+	55	10713	c.10579A>T	c.(10579-10581)Aat>Tat	p.N3527Y		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3527					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTTACTTTTTAATTGGTCCAT	0.294																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(10579-10581)Aat>Tat		baculoviral IAP repeat containing 6							73.0	77.0	75.0					2																	32740067		2202	4300	6502	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32740067A>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10579A>T	2.37:g.32740067A>T	ENSP00000393596:p.Asn3527Tyr		Somatic					p.N3527Y	NM_016252.3	NP_057336.3	WXS	Illumina GAIIx	Phase_I	Q9NR09	BIRC6_HUMAN			55	10713	+	Acute lymphoblastic leukemia(172;0.155)		3527					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10579A>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133744	0.77662	.	.	ENSG00000115760	ENST00000421745	T	0.75260	-0.92	5.68	5.68	0.88126	.	0.097124	0.64402	D	0.000002	T	0.75852	0.3906	L	0.34521	1.04	0.54753	D	0.999982	P	0.43885	0.82	P	0.52267	0.694	T	0.78602	-0.2140	10	0.72032	D	0.01	.	15.9332	0.79683	1.0:0.0:0.0:0.0	.	3527	Q9NR09	BIRC6_HUMAN	Y	3527	ENSP00000393596:N3527Y	ENSP00000393596:N3527Y	N	+	1	0	BIRC6	32593571	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.164000	0.68074	0.477000	0.44152	AAT		0.294	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		7	92	0	0	0	1	0	7	92				
PLOD1	5351	broad.mit.edu	37	1	12024284	12024285	+	Frame_Shift_Ins	INS	-	-	G	rs373446893		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:12024284_12024285insG	ENST00000196061.4	+	12	1282_1283	c.1255_1256insG	c.(1255-1257)tggfs	p.W419fs	PLOD1_ENST00000376369.3_Frame_Shift_Ins_p.W466fs	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	419					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)	p.A421fs*45(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	GTCGAACTTCTGGGGGGCTCTC	0.629																																						ENST00000196061.4																			1	Insertion - Frameshift(1)	p.A421fs*45(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1255-1257)gggfs		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12024284_12024285insG	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1261dupG	1.37:g.12024290_12024290dupG	ENSP00000196061:p.Trp419fs		Somatic				PLOD1_ENST00000376369.3_Frame_Shift_Ins_p.G466fs	p.G419fs	NM_000302.3	NP_000293.2	WXS	Illumina GAIIx	Phase_I	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	12	1282_1283	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	419					B4DR87|Q96AV9|Q9H132	Frame_Shift_Ins	INS	ENST00000196061.4	37	c.1255_1256insG	CCDS142.1																																																																																				0.629	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		8	223						8	223	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16259479	16259480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:16259479_16259480insC	ENST00000375759.3	+	11	6948_6949	c.6744_6745insC	c.(6745-6747)cccfs	p.P2249fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2249	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.A2251fs*102(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGATCTGCAACCCCCCGCAGG	0.554																																						ENST00000375759.3																			1	Deletion - Frameshift(1)	p.A2251fs*102(1)	large_intestine(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(6742-6747)caccccfs		spen family transcriptional repressor																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16259479_16259480insC		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6750dupC	1.37:g.16259485_16259485dupC	ENSP00000364912:p.Pro2249fs		Somatic					p.HP2248fs	NM_015001.2	NP_055816.2	WXS	Illumina GAIIx	Phase_I	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6948_6949	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2248			Interaction with MSX2 (By similarity).|RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Ins	INS	ENST00000375759.3	37	c.6744_6745insC	CCDS164.1																																																																																				0.554	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		8	430						8	430	---	---	---	---
LUZP1	7798	broad.mit.edu	37	1	23417944	23417945	+	Frame_Shift_Ins	INS	-	-	G	rs202132789		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:23417944_23417945insG	ENST00000302291.4	-	4	3611_3612	c.2810_2811insC	c.(2809-2811)ccafs	p.P937fs	LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.P937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.P937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.P937fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTATTCGAGTTGGGGGGTCTTC	0.495																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2809-2811)cacfs		leucine zipper protein 1																																				SO:0001589	frameshift_variant	7798					nucleus		g.chr1:23417944_23417945insG	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2811dupC	1.37:g.23417950_23417950dupG	ENSP00000303758:p.Pro937fs		Somatic				LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs	p.H937fs			WXS	Illumina GAIIx	Phase_I	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3611_3612	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	937					Q5TH93|Q8N4X3|Q8TEH1	Frame_Shift_Ins	INS	ENST00000302291.4	37	c.2810_2811insC	CCDS30628.1																																																																																				0.495	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		9	657						9	657	---	---	---	---
LUZP1	7798	broad.mit.edu	37	1	23419318	23419319	+	Frame_Shift_Ins	INS	-	-	G	rs200183824	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:23419318_23419319insG	ENST00000302291.4	-	4	2237_2238	c.1436_1437insC	c.(1435-1437)ccgfs	p.P479fs	LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.P479fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.P479fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.P479fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	479					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCTGAGCAGCCGGGGGGTAGCG	0.569																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(1435-1437)cgcfs		leucine zipper protein 1																																				SO:0001589	frameshift_variant	7798					nucleus		g.chr1:23419318_23419319insG	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1437dupC	1.37:g.23419324_23419324dupG	ENSP00000303758:p.Pro479fs		Somatic				LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.R479fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.R479fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.R479fs	p.R479fs			WXS	Illumina GAIIx	Phase_I	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	2237_2238	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	479					Q5TH93|Q8N4X3|Q8TEH1	Frame_Shift_Ins	INS	ENST00000302291.4	37	c.1436_1437insC	CCDS30628.1																																																																																				0.569	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		7	853						7	853	---	---	---	---
DHDDS	79947	broad.mit.edu	37	1	26774120	26774121	+	Frame_Shift_Ins	INS	-	-	G	rs367557625		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:26774120_26774121insG	ENST00000236342.7	+	6	604_605	c.511_512insG	c.(511-513)tggfs	p.W171fs	DHDDS_ENST00000360009.2_Frame_Shift_Ins_p.W171fs|DHDDS_ENST00000526219.1_Frame_Shift_Ins_p.W132fs|DHDDS_ENST00000427245.2_Frame_Shift_Ins_p.W171fs|DHDDS_ENST00000525682.2_Intron|DHDDS_ENST00000374185.3_Frame_Shift_Ins_p.W171fs			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	171					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		AGAGATGGCCTGGGGGGTGGAG	0.505																																						ENST00000360009.2																			0				breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15						c.(511-513)gggfs		dehydrodolichyl diphosphate synthase																																				SO:0001589	frameshift_variant	79947						protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups	g.chr1:26774120_26774121insG	AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.517dupG	1.37:g.26774126_26774126dupG	ENSP00000236342:p.Trp171fs		Somatic				DHDDS_ENST00000374185.3_Frame_Shift_Ins_p.G171fs|DHDDS_ENST00000526219.1_Frame_Shift_Ins_p.G132fs|DHDDS_ENST00000525682.2_Intron|DHDDS_ENST00000236342.7_Frame_Shift_Ins_p.G171fs|DHDDS_ENST00000427245.2_Frame_Shift_Ins_p.G171fs	p.G171fs	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	WXS	Illumina GAIIx	Phase_I	Q86SQ9	DHDDS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)	6	588_589	+		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	171					B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Frame_Shift_Ins	INS	ENST00000236342.7	37	c.511_512insG	CCDS282.1																																																																																				0.505	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392504.1	NM_024887		8	197						8	197	---	---	---	---
RPS6KA1	6195	broad.mit.edu	37	1	26885310	26885311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:26885310_26885311insC	ENST00000374168.2	+	14	1251_1252	c.1097_1098insC	c.(1096-1101)atccccfs	p.IP366fs	RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.IP350fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.IP274fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.IP274fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.IP355fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.IP375fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	366	AGC-kinase C-terminal.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TCCCCAGGCATCCCCCCCAGCG	0.673																																						ENST00000374168.2																			0				lung(1)	1						c.(1096-1098)accfs		ribosomal protein S6 kinase, 90kDa, polypeptide 1																																				SO:0001589	frameshift_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26885310_26885311insC	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1104dupC	1.37:g.26885317_26885317dupC	ENSP00000363283:p.Ile366fs		Somatic				RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.T350fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.T274fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.T375fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.T274fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.T355fs	p.T366fs	NM_002953.3	NP_002944.2	WXS	Illumina GAIIx	Phase_I	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	14	1251_1252	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	366			AGC-kinase C-terminal.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Frame_Shift_Ins	INS	ENST00000374168.2	37	c.1097_1098insC	CCDS284.1																																																																																				0.673	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		7	196						7	196	---	---	---	---
RPS6KA1	6195	broad.mit.edu	37	1	26900615	26900616	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:26900615_26900616insC	ENST00000374168.2	+	22	2285_2286	c.2131_2132insC	c.(2131-2133)accfs	p.T711fs	RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.T695fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.T619fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.T619fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.T700fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.T720fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	711					axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CTCCAAGCCCACCCCCCAGCTG	0.629																																						ENST00000374168.2																			0				lung(1)	1						c.(2131-2133)cccfs		ribosomal protein S6 kinase, 90kDa, polypeptide 1																																				SO:0001589	frameshift_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26900615_26900616insC	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.2137dupC	1.37:g.26900621_26900621dupC	ENSP00000363283:p.Thr711fs		Somatic				RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.P695fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.P619fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.P720fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.P619fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.P700fs	p.P711fs	NM_002953.3	NP_002944.2	WXS	Illumina GAIIx	Phase_I	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	22	2285_2286	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	711					A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Frame_Shift_Ins	INS	ENST00000374168.2	37	c.2131_2132insC	CCDS284.1																																																																																				0.629	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		7	151						7	151	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5542-5544)gggfs	p.G1848fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G1465fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.G176fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G1631fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1848					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	3	Insertion - Frameshift(3)	p.G1848fs*6(3)	ovary(2)|endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5539-5544)ggggggfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105930_27105931insG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5548dupG	1.37:g.27105937_27105937dupG	ENSP00000320485:p.Gly1848fs		Somatic				ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs	p.GG1847fs	NM_006015.4	NP_006006.3	WXS	Illumina GAIIx	Phase_I	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5912_5913	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1847					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.5541_5542insG	CCDS285.1																																																																																				0.579	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		23	608						23	608	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515																																						ENST00000373839.3																			1	Deletion - Frameshift(1)	p.P356fs*33(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1030-1032)cccfs		phosphatase and actin regulator 4																																				SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272_28800273insC	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1037dupC	1.37:g.28800279_28800279dupC	ENSP00000362945:p.Ser344fs		Somatic				PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	p.P344fs	NM_001048183.1	NP_001041648.1	WXS	Illumina GAIIx	Phase_I	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1291_1292	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	344			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Ins	INS	ENST00000373839.3	37	c.1030_1031insC	CCDS41293.1																																																																																				0.515	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		22	739						22	739	---	---	---	---
PUM1	9698	broad.mit.edu	37	1	31406073	31406074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:31406073_31406074insG	ENST00000257075.5	-	22	3638_3639	c.3545_3546insC	c.(3544-3546)cctfs	p.P1182fs	PUM1_ENST00000373747.3_Frame_Shift_Ins_p.P1185fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.P940fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.P1220fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.P1040fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.P1123fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.P1184fs|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.P1158fs|SNORD103A_ENST00000363284.1_RNA	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1182					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGATACCATTAGGGGGGCCACA	0.525																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3553-3555)caafs		pumilio RNA-binding family member 1																																				SO:0001589	frameshift_variant	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31406073_31406074insG	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.3546dupC	1.37:g.31406079_31406079dupG	ENSP00000257075:p.Pro1182fs		Somatic				PUM1_ENST00000257075.5_Frame_Shift_Ins_p.Q1182fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.Q1184fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.Q1040fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.Q1220fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.Q1123fs|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.Q1158fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.Q940fs	p.Q1185fs	NM_001020658.1	NP_001018494.1	WXS	Illumina GAIIx	Phase_I	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	22	3653_3654	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	1182					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Frame_Shift_Ins	INS	ENST00000257075.5	37	c.3554_3555insC	CCDS338.1																																																																																				0.525	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			8	727						8	727	---	---	---	---
PEF1	553115	broad.mit.edu	37	1	32101045	32101047	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:32101045_32101047delGCC	ENST00000373703.4	-	2	123_125	c.101_103delGGC	c.(100-105)gggcag>gag	p.34_35GQ>E	PEF1_ENST00000492061.1_5'UTR|PEF1_ENST00000440872.2_In_Frame_Del_p.34_35GQ>E	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	34	9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.				proteolysis (GO:0006508)|response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|poly(A) RNA binding (GO:0044822)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		CTACCATACTGCCCTCCACTATT	0.626																																						ENST00000373703.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7						c.(100-105)gag>g		penta-EF-hand domain containing 1																																				SO:0001651	inframe_deletion	553115				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity	g.chr1:32101045_32101047delGCC		CCDS345.1	1p34	2013-01-10			ENSG00000162517	ENSG00000162517		"""EF-hand domain containing"""	30009	protein-coding gene	gene with protein product	"""peflin"""	610033				10486255, 11883899	Standard	NM_012392		Approved	PEF1A	uc001bth.2	Q9UBV8	OTTHUMG00000003877	ENST00000373703.4:c.101_103delGGC	1.37:g.32101045_32101047delGCC	ENSP00000362807:p.Gly34_Gln35delinsGlu		Somatic				PEF1_ENST00000440872.2_In_Frame_Del_p.GQ34del|PEF1_ENST00000492061.1_5'UTR	p.GQ34del	NM_012392.3	NP_036524.1	WXS	Illumina GAIIx	Phase_I	Q9UBV8	PEF1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0546)	2	123_125	-		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)	34			9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.			In_Frame_Del	DEL	ENST00000373703.4	37	c.101_103delGGC	CCDS345.1																																																																																				0.626	PEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011046.1	NM_012392		8	97						8	97	---	---	---	---
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:32673442_32673443insG	ENST00000291358.6	+	5	1181_1182	c.1160_1161insG	c.(1159-1164)ttggggfs	p.LG387fs	RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000537469.1_Frame_Shift_Ins_p.LG467fs|DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.55																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(1399-1401)tggfs		IQ motif containing C																																				SO:0001589	frameshift_variant	55721							g.chr1:32673442_32673443insG	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1167dupG	1.37:g.32673449_32673449dupG	ENSP00000291358:p.Leu387fs		Somatic				IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	p.W467fs	NM_001160042.1	NP_001153514.1	WXS	Illumina GAIIx	Phase_I	Q4KMZ1	IQCC_HUMAN			5	1447_1448	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	387					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Frame_Shift_Ins	INS	ENST00000291358.6	37	c.1400_1401insG	CCDS355.1																																																																																				0.550	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		7	187						7	187	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34035115	34035116	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:34035115_34035116insG	ENST00000373381.4	-	52	8165_8166	c.7989_7990insC	c.(7987-7992)cccaatfs	p.N2664fs		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2666	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGTGGCCATTGGGGGGAATCG	0.554																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(7987-7992)ccatggfs		CUB and Sushi multiple domains 2																																				SO:0001589	frameshift_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34035115_34035116insG	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7990dupC	1.37:g.34035121_34035121dupG	ENSP00000362479:p.Asn2664fs		Somatic					p.W2664fs	NM_052896.3	NP_443128.2	WXS	Illumina GAIIx	Phase_I	Q7Z408	CSMD2_HUMAN			52	8165_8166	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2666			Sushi 17.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Frame_Shift_Ins	INS	ENST00000373381.4	37	c.7989_7990insC																																																																																					0.554	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		7	262						7	262	---	---	---	---
MAP7D1	55700	broad.mit.edu	37	1	36636763	36636764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:36636763_36636764insC	ENST00000373151.2	+	2	454_455	c.238_239insC	c.(238-240)gccfs	p.A80fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.A80fs|MAP7D1_ENST00000316156.4_Frame_Shift_Ins_p.A80fs	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	80	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCTAGGCCAGCCCCCCCGCAG	0.653																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(238-240)cccfs		MAP7 domain containing 1																																				SO:0001589	frameshift_variant	55700					cytoplasm|spindle		g.chr1:36636763_36636764insC	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.245dupC	1.37:g.36636770_36636770dupC	ENSP00000362244:p.Ala80fs		Somatic				MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P80fs|MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P80fs	p.P80fs			WXS	Illumina GAIIx	Phase_I	Q3KQU3	MA7D1_HUMAN			2	691_692	+		Myeloproliferative disorder(586;0.0393)	80			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Frame_Shift_Ins	INS	ENST00000373151.2	37	c.238_239insC	CCDS30673.1																																																																																				0.653	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		8	130						8	130	---	---	---	---
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:36935322_36935323insG	ENST00000373106.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)cccagcfs	p.S469fs	CSF3R_ENST00000373103.1_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.S469fs	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1402-1407)ccgcgcfs		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)																																			SO:0001589	frameshift_variant	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36935322_36935323insG	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1405dupC	1.37:g.36935329_36935329dupG	ENSP00000362198:p.Ser469fs		Somatic				CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs	p.R469fs	NM_156039.3	NP_724781.1	WXS	Illumina GAIIx	Phase_I	Q99062	CSF3R_HUMAN			11	1951_1952	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	469			Fibronectin type-III 4.			Frame_Shift_Ins	INS	ENST00000373106.1	37	c.1404_1405insC	CCDS413.1																																																																																				0.634	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		26	314						26	314	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42050006	42050007	+	Frame_Shift_Ins	INS	-	-	G	rs138785392|rs371531691		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:42050006_42050007insG	ENST00000372583.1	-	4	1347_1348	c.462_463insC	c.(460-465)cccgagfs	p.E155fs	HIVEP3_ENST00000372584.1_Frame_Shift_Ins_p.E155fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.E155fs|HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.E155fs	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	155					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAAGGTCCTCGGGGGGAATGA	0.604																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(460-465)ccaggafs		human immunodeficiency virus type I enhancer binding protein 3																																				SO:0001589	frameshift_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050006_42050007insG	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.463dupC	1.37:g.42050012_42050012dupG	ENSP00000361664:p.Glu155fs		Somatic				HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.G155fs	p.G155fs	NM_001127714.2	NP_001121186.1	WXS	Illumina GAIIx	Phase_I	Q5T1R4	ZEP3_HUMAN			3	1476_1477	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	155					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Frame_Shift_Ins	INS	ENST00000372583.1	37	c.462_463insC	CCDS463.1																																																																																				0.604	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		7	524						7	524	---	---	---	---
KDM4A	9682	broad.mit.edu	37	1	44156564	44156565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:44156564_44156565insC	ENST00000372396.3	+	14	2220_2221	c.2086_2087insC	c.(2086-2088)gccfs	p.A696fs		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	696					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TTCAGATTTAGCCCCCCAGAAG	0.47																																						ENST00000372396.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(2086-2088)cccfs		lysine (K)-specific demethylase 4A																																				SO:0001589	frameshift_variant	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44156564_44156565insC	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2092dupC	1.37:g.44156570_44156570dupC	ENSP00000361473:p.Ala696fs		Somatic					p.P696fs	NM_014663.2	NP_055478.2	WXS	Illumina GAIIx	Phase_I	O75164	KDM4A_HUMAN			14	2220_2221	+			696					Q5VVB1	Frame_Shift_Ins	INS	ENST00000372396.3	37	c.2086_2087insC	CCDS491.1																																																																																				0.470	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		14	842						14	842	---	---	---	---
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:44878032_44878033insC	ENST00000355387.2	+	2	713_714	c.263_264insC	c.(262-267)ttccccfs	p.FP88fs	RNF220_ENST00000361799.2_Frame_Shift_Ins_p.FP88fs|RNF220_ENST00000372247.2_Frame_Shift_Ins_p.FP88fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	88					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AATCGTGATTTCCCCCCTTCTC	0.515																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(262-264)tccfs		ring finger protein 220																																				SO:0001589	frameshift_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44878032_44878033insC	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.269dupC	1.37:g.44878038_44878038dupC	ENSP00000347548:p.Phe88fs		Somatic				RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs	p.S88fs			WXS	Illumina GAIIx	Phase_I	Q5VTB9	RN220_HUMAN			2	713_714	+			88					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Frame_Shift_Ins	INS	ENST00000355387.2	37	c.263_264insC	CCDS510.1																																																																																				0.515	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		21	1993						21	1993	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46494558	46494559	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:46494558_46494559insT	ENST00000361297.2	+	18	2454_2455	c.2171_2172insT	c.(2170-2175)ccttttfs	p.PF724fs	MAST2_ENST00000372009.2_Frame_Shift_Ins_p.PF654fs	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGCTGCGTCCCTTTTTTTGGAG	0.55																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(2170-2172)cttfs		microtubule associated serine/threonine kinase 2																																				SO:0001589	frameshift_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46494558_46494559insT	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2178dupT	1.37:g.46494565_46494565dupT	ENSP00000354671:p.Pro724fs		Somatic				MAST2_ENST00000372009.2_Frame_Shift_Ins_p.L654fs|MAST2_ENST00000372008.1_Frame_Shift_Ins_p.L609fs	p.L724fs	NM_015112.2	NP_055927.2	WXS	Illumina GAIIx	Phase_I	Q6P0Q8	MAST2_HUMAN			18	2454_2455	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		724			Protein kinase.			Frame_Shift_Ins	INS	ENST00000361297.2	37	c.2171_2172insT	CCDS41326.1																																																																																				0.550	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		11	527						11	527	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)cccactfs	p.T118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.T118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594																																						ENST00000302250.2																			1	Deletion - Frameshift(1)	p.T118fs*43(1)	ovary(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(349-354)ccctatfs		family with sequence similarity 151, member A			,	13,4253		0,13,2120					,	3.2	0.2			92	8,8246		0,8,4119	no	frameshift,intron	ACOT11,FAM151A	NM_176782.2,NM_015547.3	,	0,21,6239	A1A1,A1R,RR		0.0969,0.3047,0.1677	,	,		21,12499				SO:0001589	frameshift_variant	338094					integral to membrane		g.chr1:55081756_55081757insG	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.352dupC	1.37:g.55081763_55081763dupG	ENSP00000306888:p.Thr118fs		Somatic				ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	p.Y118fs	NM_176782.2	NP_788954.2	WXS	Illumina GAIIx	Phase_I	Q8WW52	F151A_HUMAN			3	511_512	-			118					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Ins	INS	ENST00000302250.2	37	c.351_352insC	CCDS594.1																																																																																				0.594	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		22	594						22	594	---	---	---	---
ROR1	4919	broad.mit.edu	37	1	64516358	64516359	+	Splice_Site	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:64516358_64516359insC	ENST00000371079.1	+	4	827_828	c.452_453insC	c.(451-456)ggcccc>ggCcccc	p.GP151fs	ROR1_ENST00000371080.1_Splice_Site_p.GP151fs|ROR1_ENST00000482426.1_3'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	151					peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATTTCTTCAGGCCCCCCTCCCA	0.396																																						ENST00000371079.1																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						c.e4-1		receptor tyrosine kinase-like orphan receptor 1																																				SO:0001630	splice_region_variant	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64516358_64516359insC	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.452-1->C	1.37:g.64516364_64516364dupC			Somatic				ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Splice_Site_p.A151_splice	p.A151_splice	NM_005012.3	NP_005003.2	WXS	Illumina GAIIx	Phase_I	Q01973	ROR1_HUMAN			4	827_828	+			151					Q5VVX6|Q66K77|Q92776	Splice_Site	INS	ENST00000371079.1	37	c.451_splice	CCDS626.1																																																																																				0.396	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012	Frame_Shift_Ins	7	635						7	635	---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G	rs368823178		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)ccgfs	p.P430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GGACGATCAACGGGGGGGCCAC	0.54			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1288-1290)cttfs		Janus kinase 1																																				SO:0001589	frameshift_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65325832_65325833insG	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1290dupC	1.37:g.65325839_65325839dupG	ENSP00000343204:p.Pro430fs		Somatic					p.L430fs	NM_002227.2	NP_002218.2	WXS	Illumina GAIIx	Phase_I	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	9	1537_1538	-			430					Q59GQ2|Q9UD26	Frame_Shift_Ins	INS	ENST00000342505.4	37	c.1289_1290insC	CCDS41346.1																																																																																				0.540	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		20	406						20	406	---	---	---	---
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555|rs185821757		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)gggcacfs	p.H432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1291-1296)ggacaafs		guanylate binding protein 7																																				SO:0001589	frameshift_variant	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89613321_89613322insC	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1294dupG	1.37:g.89613328_89613328dupC	ENSP00000294671:p.His432fs		Somatic					p.Q432fs	NM_207398.2	NP_997281.2	WXS	Illumina GAIIx	Phase_I	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	8	1431_1432	-		Lung NSC(277;0.0908)	432						Frame_Shift_Ins	INS	ENST00000294671.2	37	c.1293_1294insG	CCDS720.1																																																																																				0.436	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		10	158						10	158	---	---	---	---
LRRC8C	84230	broad.mit.edu	37	1	90179646	90179647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:90179646_90179647insC	ENST00000370454.4	+	3	1772_1773	c.1517_1518insC	c.(1516-1521)ctccccfs	p.LP506fs	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	506					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ATGAGGGAACTCCCCCCCTGGA	0.5																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(1516-1518)cccfs		leucine rich repeat containing 8 family, member C																																				SO:0001589	frameshift_variant	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90179646_90179647insC		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1524dupC	1.37:g.90179653_90179653dupC	ENSP00000359483:p.Leu506fs		Somatic				RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	p.P506fs	NM_032270.4	NP_115646.2	WXS	Illumina GAIIx	Phase_I	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	1772_1773	+		all_lung(203;0.126)	506					B3KXS9|Q29RV6|Q9H075	Frame_Shift_Ins	INS	ENST00000370454.4	37	c.1517_1518insC	CCDS725.1																																																																																				0.500	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		8	146						8	146	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)tggfs	p.W170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(508-510)gggfs		epoxide hydrolase 4																																				SO:0001589	frameshift_variant	253152					integral to membrane	hydrolase activity	g.chr1:92511121_92511122insG	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.515dupG	1.37:g.92511128_92511128dupG	ENSP00000359410:p.Trp170fs		Somatic					p.G170fs	NM_173567.4	NP_775838.3	WXS	Illumina GAIIx	Phase_I	Q8IUS5	EPHX4_HUMAN			4	606_607	+			170					Q8NCC6	Frame_Shift_Ins	INS	ENST00000370383.4	37	c.508_509insG	CCDS736.1																																																																																				0.386	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		27	414						27	414	---	---	---	---
PRPF38B	55119	broad.mit.edu	37	1	109242455	109242456	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:109242455_109242456insA	ENST00000370025.4	+	6	1723_1724	c.1454_1455insA	c.(1453-1458)tcaaaafs	p.SK485fs	PRPF38B_ENST00000370021.1_Frame_Shift_Ins_p.SK374fs	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	485					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.R488fs*4(1)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GTTGAAAAATCAAAAAAACGGG	0.361																																						ENST00000370021.1																			1	Insertion - Frameshift(1)	p.R488fs*4(1)	large_intestine(1)	NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(1120-1122)taafs		pre-mRNA processing factor 38B				0,4266		0,0,2133						3.9	1.0			105	1,8253		0,1,4126	no	frameshift	PRPF38B	NM_018061.2		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109242455_109242456insA	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.1461dupA	1.37:g.109242462_109242462dupA	ENSP00000359042:p.Ser485fs		Somatic				PRPF38B_ENST00000370025.4_Frame_Shift_Ins_p.*485fs	p.*374fs			WXS	Illumina GAIIx	Phase_I	Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	7	1758_1759	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	485			Arg-rich.		Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Frame_Shift_Ins	INS	ENST00000370025.4	37	c.1121_1122insA	CCDS788.1																																																																																				0.361	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		8	376						8	376	---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109807570	109807571	+	Frame_Shift_Ins	INS	-	-	C	rs115193384	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:109807570_109807571insC	ENST00000271332.3	+	12	5606_5607	c.5545_5546insC	c.(5545-5547)gccfs	p.A1849fs		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1849	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAAGCCCAGTGCCCCCCATGGC	0.564																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(5545-5547)cccfs		cadherin, EGF LAG seven-pass G-type receptor 2																																				SO:0001589	frameshift_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109807570_109807571insC	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.5551dupC	1.37:g.109807576_109807576dupC	ENSP00000271332:p.Ala1849fs		Somatic					p.P1849fs	NM_001408.2	NP_001399.1	WXS	Illumina GAIIx	Phase_I	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	12	5606_5607	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1849			EGF-like 6; calcium-binding.		Q5T2Y7|Q92566	Frame_Shift_Ins	INS	ENST00000271332.3	37	c.5545_5546insC	CCDS796.1																																																																																				0.564	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		8	325						8	325	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C	rs552970171		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)gccfs	p.A352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1054-1056)catfs		oviductal glycoprotein 1, 120kDa																																				SO:0001589	frameshift_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111959046_111959047insC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1055dupG	1.37:g.111959053_111959053dupC	ENSP00000358747:p.Ala352fs		Somatic				OVGP1_ENST00000540696.1_3'UTR	p.H352fs	NM_002557.3	NP_002548.3	WXS	Illumina GAIIx	Phase_I	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	10	1109_1110	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	352					A0AV19|B9EGE1|Q15841	Frame_Shift_Ins	INS	ENST00000369732.3	37	c.1054_1055insG	CCDS834.1																																																																																				0.505	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		51	657						51	657	---	---	---	---
FAM212B	55924	broad.mit.edu	37	1	112269658	112269659	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:112269658_112269659insG	ENST00000357260.5	-	2	1006_1007	c.825_826insC	c.(823-828)cccacafs	p.T276fs	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.T261fs	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	276										cervix(1)|endometrium(1)	2						GGGCAGCTTGTGGGGGGATTCT	0.574																																						ENST00000357260.5																			0				cervix(1)|endometrium(1)	2						c.(823-828)cccaagfs		family with sequence similarity 212, member B																																				SO:0001589	frameshift_variant	55924							g.chr1:112269658_112269659insG	AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 183"""	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.826dupC	1.37:g.112269664_112269664dupG	ENSP00000349805:p.Thr276fs		Somatic				FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.K261fs	p.K276fs	NM_019099.4	NP_061972.1	WXS	Illumina GAIIx	Phase_I	Q9NTI7	CA183_HUMAN			2	1006_1007	-			276					B3KP38|B4DF94|Q9NTI6	Frame_Shift_Ins	INS	ENST00000357260.5	37	c.825_826insC	CCDS841.1																																																																																				0.574	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033060.2	NM_019099		10	1327						10	1327	---	---	---	---
NBPF10	100132406	broad.mit.edu	37	1	145297684	145297685	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:145297684_145297685insC	ENST00000342960.5	+	4	594_595	c.559_560insC	c.(559-561)gccfs	p.A187fs	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	187	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGAATCATCTGCCCCCAGGTAA	0.436																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(559-561)cccfs		neuroblastoma breakpoint family, member 10																																				SO:0001589	frameshift_variant	100132406							g.chr1:145297684_145297685insC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.564dupC	1.37:g.145297689_145297689dupC	ENSP00000345684:p.Ala187fs		Somatic				RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.P187fs	NM_001039703.4	NP_001034792.4	WXS	Illumina GAIIx	Phase_I	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	4	594_595	+	all_hematologic(923;0.032)		187					Q5RHC0|Q9NWN6	Frame_Shift_Ins	INS	ENST00000342960.5	37	c.559_560insC	CCDS53355.1																																																																																				0.436	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		8	1411						8	1411	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145527707	145527708	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:145527707_145527708insG	ENST00000369304.3	+	2	322_323	c.147_148insG	c.(148-150)gggfs	p.G50fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.LG24fs|ITGA10_ENST00000539363.1_Intron	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	50					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACAACATGTTGGGGGTGGACA	0.525																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(145-150)gtggggfs		integrin, alpha 10																																				SO:0001589	frameshift_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145527707_145527708insG	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.152dupG	1.37:g.145527712_145527712dupG	ENSP00000358310:p.Gly50fs		Somatic				ITGA10_ENST00000539363.1_Intron|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.W24fs	p.VG49fs	NM_003637.3	NP_003628.2	WXS	Illumina GAIIx	Phase_I	O75578	ITA10_HUMAN			2	322_323	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		49					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Frame_Shift_Ins	INS	ENST00000369304.3	37	c.147_148insG	CCDS918.1																																																																																				0.525	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		7	975						7	975	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1627-1629)cccfs	p.P543fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.P412fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.P400fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	543					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1624-1629)gaccccfs		integrin, alpha 10																																				SO:0001589	frameshift_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534121_145534122insC	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1633dupC	1.37:g.145534128_145534128dupC	ENSP00000358310:p.Pro543fs		Somatic				ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs	p.DP542fs	NM_003637.3	NP_003628.2	WXS	Illumina GAIIx	Phase_I	O75578	ITA10_HUMAN			14	1801_1802	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		542					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Frame_Shift_Ins	INS	ENST00000369304.3	37	c.1626_1627insC	CCDS918.1																																																																																				0.554	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		20	470						20	470	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1257)tgccccfs	p.CP418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.CP383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.5																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1252-1254)tccfs		protein inhibitor of activated STAT, 3																																				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584022_145584023insC	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1259dupC	1.37:g.145584028_145584028dupC	ENSP00000376765:p.Cys418fs		Somatic				PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	p.S418fs	NM_006099.3	NP_006090.2	WXS	Illumina GAIIx	Phase_I	Q9Y6X2	PIAS3_HUMAN			10	1343_1344	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		418					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1253_1254insC	CCDS920.2																																																																																				0.500	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		11	757						11	757	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1798-1800)gggfs	p.G600fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.G565fs|NUDT17_ENST00000444015.2_5'Flank	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	600					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGGCCCCTGGGGGGGCCTT	0.663																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1795-1800)ccggggfs		protein inhibitor of activated STAT, 3				11,4249		0,11,2119						4.1	1.0			46	12,8224		0,12,4106	no	frameshift	PIAS3	NM_006099.3		0,23,6225	A1A1,A1R,RR		0.1457,0.2582,0.1841				23,12473				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145585532_145585533insG	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1804dupG	1.37:g.145585539_145585539dupG	ENSP00000376765:p.Gly600fs		Somatic				PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	p.PG599fs	NM_006099.3	NP_006090.2	WXS	Illumina GAIIx	Phase_I	Q9Y6X2	PIAS3_HUMAN			14	1887_1888	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		599					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1797_1798insG	CCDS920.2																																																																																				0.663	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		7	173						7	173	---	---	---	---
NBPF14	25832	broad.mit.edu	37	1	148009439	148009439	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:148009439delG	ENST00000369219.1	-	16	1884	c.1868delC	c.(1867-1869)tcafs	p.S623fs				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	623	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AAGACAACCTGAAGGAGTTGA	0.483																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1867-1869)tafs		neuroblastoma breakpoint family, member 14							130.0	266.0	226.0					1																	148009439		1706	4065	5771	SO:0001589	frameshift_variant	25832					cytoplasm		g.chr1:148009439delG	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1868delC	1.37:g.148009439delG	ENSP00000358221:p.Ser623fs		Somatic					p.S623fs			WXS	Illumina GAIIx	Phase_I	Q5TI25	NBPFE_HUMAN			16	1884	-	all_hematologic(923;0.032)		623			NBPF 7.		Q5TI23|Q8IX76|Q9UJI9	Frame_Shift_Del	DEL	ENST00000369219.1	37	c.1868delC																																																																																					0.483	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		15	1997						15	1997	---	---	---	---
TARS2	80222	broad.mit.edu	37	1	150477198	150477199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:150477198_150477199insG	ENST00000369064.3	+	15	1843_1844	c.1809_1810insG	c.(1810-1812)gggfs	p.G604fs	TARS2_ENST00000606933.1_Frame_Shift_Ins_p.G522fs|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.G474fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	604					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.C603C(2)|p.G604W(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAAGCTGCGGGGGGAAATG	0.569																																						ENST00000369064.3																			3	Substitution - coding silent(2)|Substitution - Missense(1)	p.C603C(2)|p.G604W(1)	urinary_tract(1)|lung(1)|endometrium(1)	cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1807-1812)tgggggfs		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)																																			SO:0001589	frameshift_variant	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150477198_150477199insG	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1815dupG	1.37:g.150477204_150477204dupG	ENSP00000358060:p.Gly604fs		Somatic				TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs|TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs	p.WG603fs	NM_025150.3	NP_079426.2	WXS	Illumina GAIIx	Phase_I	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		15	1843_1844	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		603					Q53GW7|Q96I50|Q9H9V2	Frame_Shift_Ins	INS	ENST00000369064.3	37	c.1809_1810insG	CCDS952.1																																																																																				0.569	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		7	804						7	804	---	---	---	---
SETDB1	9869	broad.mit.edu	37	1	150917623	150917624	+	Intron	INS	-	-	G	rs587715611|rs587751384|rs186820437	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:150917623_150917624insG	ENST00000271640.5	+	9	1330				SETDB1_ENST00000368962.2_Frame_Shift_Ins_p.G394fs|SETDB1_ENST00000368969.4_Intron|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGAGGTTGGTGGGGGGGGAAC	0.475																																						ENST00000368962.2																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1177-1182)ggggggfs		SET domain, bifurcated 1			,	53,4213		1,51,2081					,	-6.3	0.0			32	26,8228		0,26,4101	no	intron,intron	SETDB1	NM_012432.3,NM_001145415.1	,	1,77,6182	A1A1,A1R,RR		0.315,1.2424,0.631	,	,		79,12441				SO:0001627	intron_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150917623_150917624insG	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1140+39->G	1.37:g.150917631_150917631dupG			Somatic				SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000271640.5_Intron|SETDB1_ENST00000368969.4_Intron	p.GG393fs	NM_001243491.1	NP_001230420.1	WXS	Illumina GAIIx	Phase_I	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		9	1305_1306	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		0			Tudor 2.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Frame_Shift_Ins	INS	ENST00000271640.5	37	c.1179_1180insG	CCDS44217.1																																																																																				0.475	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			9	50						9	50	---	---	---	---
CELF3	11189	broad.mit.edu	37	1	151681714	151681715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:151681714_151681715insC	ENST00000290583.4	-	4	1180_1181	c.387_388insG	c.(385-390)gggccafs	p.P130fs	CELF3_ENST00000392706.3_5'Flank|AL589765.1_ENST00000442233.2_5'Flank|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|RIIAD1_ENST00000326413.3_5'Flank|CELF3_ENST00000290585.4_Frame_Shift_Ins_p.P130fs	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	130	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						GTGCCATCTGGCCCCCGGAGCA	0.614																																						ENST00000290583.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						c.(385-390)ggcagafs		CUGBP, Elav-like family member 3																																				SO:0001589	frameshift_variant	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151681714_151681715insC	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.388dupG	1.37:g.151681719_151681719dupC	ENSP00000290583:p.Pro130fs		Somatic				CELF3_ENST00000290585.4_Frame_Shift_Ins_p.R130fs|CELF3_ENST00000470688.1_5'UTR	p.R130fs	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	WXS	Illumina GAIIx	Phase_I	Q5SZQ8	CELF3_HUMAN			4	1180_1181	-			130			RRM 2.		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Frame_Shift_Ins	INS	ENST00000290583.4	37	c.387_388insG	CCDS1002.1																																																																																				0.614	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		9	1276						9	1276	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152080608	152080608	+	Silent	SNP	T	T	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152080608T>C	ENST00000368804.1	-	2	5084	c.5085A>G	c.(5083-5085)gaA>gaG	p.E1695E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1695	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTTCCTCTTCGCGGAATT	0.577																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(5083-5085)gaA>gaG		trichohyalin							92.0	90.0	91.0					1																	152080608		1895	4118	6013	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080608T>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5085A>G	1.37:g.152080608T>C			Somatic					p.E1695E	NM_007113.2	NP_009044.2	WXS	Illumina GAIIx	Phase_I	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5084	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1695			23 X 26 AA approximate tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.5085A>G	CCDS41396.1																																																																																				0.577	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		4	352	0	0	0	1	0	4	352				
HRNR	388697	broad.mit.edu	37	1	152191276	152191277	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:152191276_152191277insC	ENST00000368801.2	-	3	2903_2904	c.2828_2829insG	c.(2827-2829)ggtfs	p.G943fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	943					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGAGTGTAACCAGAGGACTG	0.569																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2827-2829)gtafs		hornerin																																				SO:0001589	frameshift_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191276_152191277insC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2829dupG	1.37:g.152191278_152191278dupC	ENSP00000357791:p.Gly943fs		Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.V943fs	NM_001009931.1	NP_001009931.1	WXS	Illumina GAIIx	Phase_I	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2903_2904	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		943					Q5DT20|Q5U1F4	Frame_Shift_Ins	INS	ENST00000368801.2	37	c.2828_2829insG	CCDS30859.1																																																																																				0.569	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		20	273						20	273	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152324465	152324466	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:152324465_152324466insAT	ENST00000388718.5	-	3	5868_5869	c.5796_5797insAT	c.(5794-5799)catggcfs	p.G1933fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1933					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGGGTGGCCATGTTCAGTGG	0.52																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5794-5799)cagccafs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324465_152324466insAT	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5795_5796dupAT	1.37:g.152324466_152324467dupAT	ENSP00000373370:p.Gly1933fs		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.P1933fs	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5868_5869	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1933					Q9H4U1	Frame_Shift_Ins	INS	ENST00000388718.5	37	c.5796_5797insAT	CCDS30861.1																																																																																				0.520	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		23	801						23	801	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152325663	152325663	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:152325663delT	ENST00000388718.5	-	3	4671	c.4599delA	c.(4597-4599)gaafs	p.E1533fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1533					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATTATGGATTCTGACTCTC	0.493																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4597-4599)gafs		filaggrin family member 2							286.0	276.0	280.0					1																	152325663		2203	4300	6503	SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152325663delT	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4599delA	1.37:g.152325663delT	ENSP00000373370:p.Glu1533fs		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.E1533fs	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4671	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1533					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.4599delA	CCDS30861.1																																																																																				0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		17	903						17	903	---	---	---	---
KPRP	448834	broad.mit.edu	37	1	152732263	152732263	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:152732263delT	ENST00000606109.1	+	1	227	c.199delT	c.(199-201)tctfs	p.S67fs	KPRP_ENST00000368773.1_Frame_Shift_Del_p.S67fs			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	67	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATGCCAGTCTCAGACCAC	0.557																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(199-201)ctfs		keratinocyte proline-rich protein							172.0	151.0	158.0					1																	152732263		2203	4300	6503	SO:0001589	frameshift_variant	448834					cytoplasm		g.chr1:152732263delT	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.199delT	1.37:g.152732263delT	ENSP00000475216:p.Ser67fs		Somatic				KPRP_ENST00000606109.1_Frame_Shift_Del_p.S67fs	p.S67fs	NM_001025231.1	NP_001020402.1	WXS	Illumina GAIIx	Phase_I	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	257	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		67			Gln-rich.			Frame_Shift_Del	DEL	ENST00000606109.1	37	c.199delT	CCDS30862.1																																																																																				0.557	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		25	936						25	936	---	---	---	---
PGLYRP4	57115	broad.mit.edu	37	1	153317810	153317811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:153317810_153317811insC	ENST00000359650.5	-	4	251_252	c.187_188insG	c.(187-189)gcafs	p.A63fs	PGLYRP4_ENST00000368739.3_Frame_Shift_Ins_p.A59fs|PGLYRP4_ENST00000490266.1_5'UTR	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	63					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACAGCTTCTGCCCCCCATGCC	0.589																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(175-177)agafs		peptidoglycan recognition protein 4																																				SO:0001589	frameshift_variant	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153317810_153317811insC	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.188dupG	1.37:g.153317816_153317816dupC	ENSP00000352672:p.Ala63fs		Somatic				PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs|PGLYRP4_ENST00000490266.1_5'UTR	p.R59fs			WXS	Illumina GAIIx	Phase_I	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	533_534	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		63					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Frame_Shift_Ins	INS	ENST00000359650.5	37	c.175_176insG	CCDS30871.1																																																																																				0.589	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		16	1166						16	1166	---	---	---	---
RUSC1	23623	broad.mit.edu	37	1	155292753	155292779	+	In_Frame_Del	DEL	GTCCCGCCCCGGCCCCCACCCCCGCCT	GTCCCGCCCCGGCCCCCACCCCCGCCT	-	rs543666835	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:155292753_155292779delGTCCCGCCCCGGCCCCCACCCCCGCCT	ENST00000368352.5	+	2	1340_1366	c.1189_1215delGTCCCGCCCCGGCCCCCACCCCCGCCT	c.(1189-1215)gtcccgccccggcccccacccccgcctdel	p.VPPRPPPPP397del	RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368349.4_5'Flank|RUSC1_ENST00000368354.3_In_Frame_Del_p.VPPRPPPPP397del|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000292254.4_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	397					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CTGGGCTTTGGTCCCGCCCCGGCCCCCACCCCCGCCTGTCCCTCCCC	0.718																																						ENST00000368352.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21						c.(1189-1215)del		RUN and SH3 domain containing 1																																				SO:0001651	inframe_deletion	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155292753_155292779delGTCCCGCCCCGGCCCCCACCCCCGCCT	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1189_1215delGTCCCGCCCCGGCCCCCACCCCCGCCT	1.37:g.155292753_155292779delGTCCCGCCCCGGCCCCCACCCCCGCCT	ENSP00000357336:p.Val397_Pro405del		Somatic				RUSC1_ENST00000368354.3_In_Frame_Del_p.VPPRPPPPP397del|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA	p.VPPRPPPPP397del	NM_001105203.1	NP_001098673.1	WXS	Illumina GAIIx	Phase_I	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	1340_1366	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		397					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	In_Frame_Del	DEL	ENST00000368352.5	37	c.1189_1215delGTCCCGCCCCGGCCCCCACCCCCGCCT	CCDS41410.1																																																																																				0.718	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			7	7						7	7	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155491185	155491186	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:155491185_155491186insT	ENST00000368346.3	-	2	764_765	c.125_126insA	c.(124-126)aacfs	p.N42fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	42					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTCCTTTGTGTTTTTTTCTAG	0.431																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(124-126)aacfs		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155491185_155491186insT	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.126dupA	1.37:g.155491192_155491192dupT	ENSP00000357330:p.Asn42fs		Somatic				ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs	p.N42fs			WXS	Illumina GAIIx	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		2	764_765	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		42					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Ins	INS	ENST00000368346.3	37	c.125_126insA																																																																																					0.431	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		10	1570						10	1570	---	---	---	---
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)catfs	p.H18fs	MRPL24_ENST00000478899.1_5'Flank|MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.H18fs			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574																																						ENST00000361531.2																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(52-54)ttafs		mitochondrial ribosomal protein L24																																				SO:0001589	frameshift_variant	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708444_156708445insG	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.53dupC	1.37:g.156708451_156708451dupG	ENSP00000354525:p.His18fs		Somatic				MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.L18fs	p.L18fs			WXS	Illumina GAIIx	Phase_I	Q96A35	RM24_HUMAN			2	188_189	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		18					D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Frame_Shift_Ins	INS	ENST00000361531.2	37	c.52_53insC	CCDS1155.1																																																																																				0.574	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		8	261						8	261	---	---	---	---
KIRREL	55243	broad.mit.edu	37	1	158058202	158058203	+	Frame_Shift_Ins	INS	-	-	C	rs548707549		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:158058202_158058203insC	ENST00000359209.6	+	8	1069_1070	c.1002_1003insC	c.(1003-1005)cccfs	p.P335fs	KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.P232fs|KIRREL_ENST00000368172.1_Frame_Shift_Ins_p.P133fs|KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.P171fs|KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.P335fs|KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.P235fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	335	Ig-like C2-type 4.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGTTGGGAATCCCCCCCTCAC	0.455																																						ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(394-399)aaccccfs		kin of IRRE like (Drosophila)																																				SO:0001589	frameshift_variant	55243					integral to membrane		g.chr1:158058202_158058203insC	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1009dupC	1.37:g.158058209_158058209dupC	ENSP00000352138:p.Pro335fs		Somatic				KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.NP170fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.NP231fs|KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.NP234fs|KIRREL_ENST00000359209.6_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.NP334fs	p.NP132fs			WXS	Illumina GAIIx	Phase_I	Q96J84	KIRR1_HUMAN			4	408_409	+	all_hematologic(112;0.0378)		334			Ig-like C2-type 2.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Frame_Shift_Ins	INS	ENST00000359209.6	37	c.396_397insC	CCDS1172.2																																																																																				0.455	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		10	556						10	556	---	---	---	---
CD1C	911	broad.mit.edu	37	1	158262099	158262100	+	Frame_Shift_Ins	INS	-	-	C	rs535534188		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:158262099_158262100insC	ENST00000368170.3	+	3	833_834	c.554_555insC	c.(553-558)tgccccfs	p.CP185fs		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	185					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGAAGCACTTGCCCCCGATTTC	0.45																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(553-555)tccfs		CD1c molecule																																				SO:0001589	frameshift_variant	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262099_158262100insC	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.559dupC	1.37:g.158262104_158262104dupC	ENSP00000357152:p.Cys185fs		Somatic					p.S185fs	NM_001765.2	NP_001756.2	WXS	Illumina GAIIx	Phase_I	P29017	CD1C_HUMAN			3	833_834	+	all_hematologic(112;0.0378)		185					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Frame_Shift_Ins	INS	ENST00000368170.3	37	c.554_555insC	CCDS1175.1																																																																																				0.450	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		11	2541						11	2541	---	---	---	---
RCSD1	92241	broad.mit.edu	37	1	167654710	167654711	+	Frame_Shift_Ins	INS	-	-	C	rs144007158		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:167654710_167654711insC	ENST00000367854.3	+	3	492_493	c.161_162insC	c.(160-165)ttccccfs	p.FP54fs	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	54					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTCCCCCTGTTCCCCCCCAAGG	0.554																																						ENST00000367854.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(160-162)tccfs		RCSD domain containing 1																																				SO:0001589	frameshift_variant	92241							g.chr1:167654710_167654711insC	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.168dupC	1.37:g.167654717_167654717dupC	ENSP00000356828:p.Phe54fs		Somatic				RCSD1_ENST00000537350.1_Intron	p.S54fs	NM_052862.3	NP_443094.3	WXS	Illumina GAIIx	Phase_I	Q6JBY9	CPZIP_HUMAN			3	492_493	+	all_hematologic(923;0.215)		54					B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Frame_Shift_Ins	INS	ENST00000367854.3	37	c.161_162insC	CCDS1263.1																																																																																				0.554	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		12	241						12	241	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:167865905_167865906insG	ENST00000367851.4	-	7	850_851	c.666_667insC	c.(664-669)cccaatfs	p.N223fs	ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.N70fs|ADCY10_ENST00000367848.1_Frame_Shift_Ins_p.N131fs	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGTT	0.332																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(388-393)ccatttfs		adenylate cyclase 10 (soluble)																																				SO:0001589	frameshift_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167865905_167865906insG	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.667dupC	1.37:g.167865911_167865911dupG	ENSP00000356825:p.Asn223fs		Somatic				ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs|ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs	p.F131fs			WXS	Illumina GAIIx	Phase_I	Q96PN6	ADCYA_HUMAN			7	887_888	-			223			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Frame_Shift_Ins	INS	ENST00000367851.4	37	c.390_391insC	CCDS1265.1																																																																																				0.332	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		8	475						8	475	---	---	---	---
FMO1	2326	broad.mit.edu	37	1	171227337	171227338	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:171227337_171227338insG	ENST00000354841.4	+	1	242_243	c.111_112insG	c.(112-114)gggfs	p.G38fs	FMO1_ENST00000402921.2_Frame_Shift_Ins_p.G38fs|FMO1_ENST00000367750.3_Frame_Shift_Ins_p.G38fs|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	38					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GCGATGACCTTGGGGGGCTGTG	0.53																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(109-114)ctggggfs		flavin containing monooxygenase 1																																				SO:0001589	frameshift_variant	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171227337_171227338insG	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.117dupG	1.37:g.171227343_171227343dupG	ENSP00000346901:p.Gly38fs		Somatic				FMO1_ENST00000367750.3_Frame_Shift_Ins_p.LG37fs|FMO1_ENST00000402921.2_Frame_Shift_Ins_p.LG37fs|FMO1_ENST00000469112.1_3'UTR	p.LG37fs			WXS	Illumina GAIIx	Phase_I	Q01740	FMO1_HUMAN			1	242_243	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		37					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Frame_Shift_Ins	INS	ENST00000354841.4	37	c.111_112insG	CCDS1294.1																																																																																				0.530	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		10	496						10	496	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1227)ctggggfs	p.LG408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.LG408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L408fs*49(2)|p.L408L(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTTGCTCCTGGGGGGAGACA	0.574																																						ENST00000367662.3																			4	Deletion - Frameshift(2)|Substitution - coding silent(2)	p.L408fs*49(2)|p.L408L(2)	lung(4)	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1222-1224)cggfs		pappalysin 2																																				SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563963_176563964insG	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1229dupG	1.37:g.176563969_176563969dupG	ENSP00000356634:p.Leu408fs		Somatic				PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	p.R408fs	NM_020318.2	NP_064714.2	WXS	Illumina GAIIx	Phase_I	Q9BXP8	PAPP2_HUMAN			3	2387_2388	+			408					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Ins	INS	ENST00000367662.3	37	c.1223_1224insG	CCDS41438.1																																																																																				0.574	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			10	639						10	639	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5052)atccccfs	p.IP1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.47																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(5047-5049)accfs		pappalysin 2																																				SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176762723_176762724insC	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5055dupC	1.37:g.176762730_176762730dupC	ENSP00000356634:p.Ile1683fs		Somatic					p.T1683fs	NM_020318.2	NP_064714.2	WXS	Illumina GAIIx	Phase_I	Q9BXP8	PAPP2_HUMAN			20	6212_6213	+			1683			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Ins	INS	ENST00000367662.3	37	c.5048_5049insC	CCDS41438.1																																																																																				0.470	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			32	657						32	657	---	---	---	---
DHX9	1660	broad.mit.edu	37	1	182852697	182852698	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:182852697_182852698insC	ENST00000367549.3	+	26	3297_3298	c.3187_3188insC	c.(3187-3189)accfs	p.T1063fs	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1063				T -> P (in Ref. 1; AAB48855 and 3; CAA71668). {ECO:0000305}.	ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GACTTTAGTCACCCCCCTGCAG	0.441																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(3187-3189)cccfs		DEAH (Asp-Glu-Ala-His) box helicase 9																																				SO:0001589	frameshift_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182852697_182852698insC	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.3193dupC	1.37:g.182852703_182852703dupC	ENSP00000356520:p.Thr1063fs		Somatic				DHX9_ENST00000485081.1_3'UTR	p.P1063fs	NM_001357.4	NP_001348.2	WXS	Illumina GAIIx	Phase_I	Q08211	DHX9_HUMAN			26	3297_3298	+			1063	T -> P (in Ref. 1; AAB48855 and 2; CAA71668).				B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Frame_Shift_Ins	INS	ENST00000367549.3	37	c.3187_3188insC	CCDS41444.1																																																																																				0.441	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		11	528						11	528	---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184764537	184764538	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:184764537_184764538insC	ENST00000367511.3	-	14	2553_2554	c.2360_2361insG	c.(2359-2361)ggafs	p.G787fs	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	787	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCTCTGGAAATCCCCCCAACTC	0.668																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(2359-2361)gttfs		family with sequence similarity 129, member A																																				SO:0001589	frameshift_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184764537_184764538insC	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2361dupG	1.37:g.184764543_184764543dupC	ENSP00000356481:p.Gly787fs		Somatic				FAM129A_ENST00000487074.1_5'UTR	p.V787fs	NM_052966.2	NP_443198.1	WXS	Illumina GAIIx	Phase_I	Q9BZQ8	NIBAN_HUMAN			14	2553_2554	-			787			Glu-rich.		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Frame_Shift_Ins	INS	ENST00000367511.3	37	c.2360_2361insG	CCDS1364.1																																																																																				0.668	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			7	701						7	701	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4504-4506)cccfs	p.P1502fs	NAV1_ENST00000367302.1_Frame_Shift_Ins_p.P1455fs|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.P1108fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.P1442fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.P1499fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.P1494fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1502					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(4501-4506)gaccccfs		neuron navigator 1																																				SO:0001589	frameshift_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201779175_201779176insC	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4509dupC	1.37:g.201779181_201779181dupC	ENSP00000356265:p.Pro1502fs		Somatic				NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs	p.DP1501fs	NM_020443.4	NP_065176.3	WXS	Illumina GAIIx	Phase_I	Q8NEY1	NAV1_HUMAN			23	4923_4924	+			1501					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Frame_Shift_Ins	INS	ENST00000367296.4	37	c.4503_4504insC	CCDS1414.2																																																																																				0.525	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		18	468						18	468	---	---	---	---
FMOD	2331	broad.mit.edu	37	1	203316469	203316470	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:203316469_203316470insG	ENST00000354955.4	-	2	1392_1393	c.929_930insC	c.(928-930)ccafs	p.P310fs	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	310					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.P310R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TGGTGTTGACTGGGGGGATCTT	0.525																																						ENST00000354955.4																			1	Substitution - Missense(1)	p.P310R(1)	ovary(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(928-930)cgtfs		fibromodulin																																				SO:0001589	frameshift_variant	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316469_203316470insG	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.930dupC	1.37:g.203316475_203316475dupG	ENSP00000347041:p.Pro310fs		Somatic				FMOD_ENST00000464898.1_5'UTR	p.R310fs	NM_002023.4	NP_002014.2	WXS	Illumina GAIIx	Phase_I	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1392_1393	-			310					Q15331|Q8IV47	Frame_Shift_Ins	INS	ENST00000354955.4	37	c.929_930insC	CCDS30976.1																																																																																				0.525	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		7	502						7	502	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-258)atccccfs	p.IP85fs	ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.IP85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.48																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(253-255)accfs		ATPase, Ca++ transporting, plasma membrane 4																																				SO:0001589	frameshift_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203667345_203667346insC	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.261dupC	1.37:g.203667352_203667352dupC	ENSP00000350310:p.Ile85fs		Somatic				ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs	p.T85fs	NM_001684.4	NP_001675.3	WXS	Illumina GAIIx	Phase_I	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	1377_1378	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		85					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Ins	INS	ENST00000357681.5	37	c.254_255insC	CCDS1440.1																																																																																				0.480	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		12	328						12	328	---	---	---	---
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:204170835_204170836insC	ENST00000308302.3	-	3	406_407	c.221_222insG	c.(220-222)ggtfs	p.G74fs	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A											kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CGATAACCACACCCCCCAGGAG	0.545																																						ENST00000308302.3																			0				kidney(1)|lung(2)|urinary_tract(1)	4						c.(220-222)ggtfs		golgi transport 1A																																				SO:0001589	frameshift_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170835_204170836insC	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.222dupG	1.37:g.204170841_204170841dupC	ENSP00000308535:p.Gly74fs		Somatic					p.G74fs	NM_198447.1	NP_940849.1	WXS	Illumina GAIIx	Phase_I	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	406_407	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		74						Frame_Shift_Ins	INS	ENST00000308302.3	37	c.221_222insG	CCDS1443.1																																																																																				0.545	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		7	927						7	927	---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204924032	204924033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:204924032_204924033insC	ENST00000401399.1	+	6	687_688	c.488_489insC	c.(487-492)aaccccfs	p.NP163fs	NFASC_ENST00000338586.6_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000367172.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.NP163fs			O94856	NFASC_HUMAN	neurofascin	163	Ig-like C2-type 2.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.P159fs*12(1)|p.P165fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCCAGTGCAACCCCCCGCCTG	0.559																																						ENST00000367172.4																			2	Deletion - Frameshift(2)	p.P159fs*12(1)|p.P165fs*12(1)	large_intestine(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(487-489)accfs		neurofascin																																				SO:0001589	frameshift_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204924032_204924033insC	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.494dupC	1.37:g.204924038_204924038dupC	ENSP00000385637:p.Asn163fs		Somatic				NFASC_ENST00000403080.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000401399.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.T157fs	p.T163fs			WXS	Illumina GAIIx	Phase_I	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		7	816_817	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		163			Ig-like C2-type 2.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Frame_Shift_Ins	INS	ENST00000401399.1	37	c.488_489insC	CCDS53460.1																																																																																				0.559	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		8	720						8	720	---	---	---	---
RBBP5	5929	broad.mit.edu	37	1	205065949	205065950	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:205065949_205065950insG	ENST00000264515.6	-	12	1397_1398	c.1256_1257insC	c.(1255-1257)ccafs	p.P419fs	RBBP5_ENST00000367164.1_Frame_Shift_Ins_p.P419fs	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	419					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTGCATCCGGTGGGGGGCCGTA	0.505																																						ENST00000264515.6																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(1255-1257)cccfs		retinoblastoma binding protein 5																																				SO:0001589	frameshift_variant	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205065949_205065950insG	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.1257dupC	1.37:g.205065955_205065955dupG	ENSP00000264515:p.Pro419fs		Somatic				RBBP5_ENST00000367164.1_Frame_Shift_Ins_p.P419fs	p.P419fs	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	WXS	Illumina GAIIx	Phase_I	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		12	1397_1398	-	Breast(84;0.0505)		419					A8K272|Q7Z6D8|Q8NDZ7	Frame_Shift_Ins	INS	ENST00000264515.6	37	c.1256_1257insC	CCDS30983.1																																																																																				0.505	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		7	401						7	401	---	---	---	---
DYRK3	8444	broad.mit.edu	37	1	206821937	206821938	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:206821937_206821938insG	ENST00000367109.2	+	3	1562_1563	c.1394_1395insG	c.(1393-1398)gtggggfs	p.VG465fs	DYRK3_ENST00000367108.3_Frame_Shift_Ins_p.VG445fs|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Frame_Shift_Ins_p.VG445fs	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	465	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.V430V(1)|p.V465V(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTTGTGCTTGTGGGGGGTCGCT	0.53																																					Melanoma(164;427 2622 26826 51707)	ENST00000367106.1																			2	Substitution - coding silent(2)	p.V430V(1)|p.V465V(1)	lung(2)	central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25						c.(1333-1335)gggfs		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3																																				SO:0001589	frameshift_variant	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821937_206821938insG	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1400dupG	1.37:g.206821943_206821943dupG	ENSP00000356076:p.Val465fs		Somatic				DYRK3_ENST00000367108.3_Frame_Shift_Ins_p.G445fs|DYRK3_ENST00000367109.2_Frame_Shift_Ins_p.G465fs|DYRK3_ENST00000489878.1_Intron	p.G445fs			WXS	Illumina GAIIx	Phase_I	O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	1807_1808	+	Breast(84;0.183)		465			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Frame_Shift_Ins	INS	ENST00000367109.2	37	c.1334_1335insG	CCDS30999.1																																																																																				0.530	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		8	750						8	750	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:207642043_207642044insC	ENST00000367058.3	+	3	806_807	c.617_618insC	c.(616-621)gtccccfs	p.VP206fs	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000367057.3_Frame_Shift_Ins_p.VP206fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396																																						ENST00000367057.3																			1	Deletion - Frameshift(1)	p.T209fs*10(1)	breast(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(616-618)gccfs		complement component (3d/Epstein Barr virus) receptor 2																																				SO:0001589	frameshift_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207642043_207642044insC	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.624dupC	1.37:g.207642050_207642050dupC	ENSP00000356025:p.Val206fs		Somatic				CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs	p.A206fs	NM_001006658.2	NP_001006659.1	WXS	Illumina GAIIx	Phase_I	P20023	CR2_HUMAN			3	806_807	+			206			Sushi 3.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Ins	INS	ENST00000367058.3	37	c.617_618insC	CCDS1478.1																																																																																				0.396	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		30	634						30	634	---	---	---	---
DIEXF	27042	broad.mit.edu	37	1	210014266	210014267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:210014266_210014267insC	ENST00000491415.2	+	8	1408_1409	c.1351_1352insC	c.(1351-1353)tccfs	p.S451fs		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	451					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CCTCATTGCTTCCCCCCTGGGC	0.465																																						ENST00000491415.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(1351-1353)cccfs		digestive organ expansion factor homolog (zebrafish)																																				SO:0001589	frameshift_variant	27042				multicellular organismal development	nucleus		g.chr1:210014266_210014267insC	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1357dupC	1.37:g.210014272_210014272dupC	ENSP00000419005:p.Ser451fs		Somatic					p.P451fs	NM_014388.6	NP_055203.4	WXS	Illumina GAIIx	Phase_I	Q68CQ4	DIEXF_HUMAN			8	1408_1409	+			451					O75992|Q4VY00|Q63HL9	Frame_Shift_Ins	INS	ENST00000491415.2	37	c.1351_1352insC	CCDS1493.1																																																																																				0.465	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		11	610						11	610	---	---	---	---
PROX1	5629	broad.mit.edu	37	1	214170285	214170286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:214170285_214170286insC	ENST00000366958.4	+	2	1015_1016	c.407_408insC	c.(406-411)agccccfs	p.SP136fs	PROX1_ENST00000498508.2_Frame_Shift_Ins_p.SP136fs|PROX1_ENST00000435016.1_Frame_Shift_Ins_p.SP136fs|PROX1_ENST00000261454.4_Frame_Shift_Ins_p.SP136fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	136					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCAAGAGACAGCCCCCCAGAGT	0.53																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(406-408)accfs		prospero homeobox 1																																				SO:0001589	frameshift_variant	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170285_214170286insC	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.413dupC	1.37:g.214170291_214170291dupC	ENSP00000355925:p.Ser136fs		Somatic				PROX1_ENST00000261454.4_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000435016.1_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000498508.2_Frame_Shift_Ins_p.T136fs	p.T136fs	NM_001270616.1	NP_001257545.1	WXS	Illumina GAIIx	Phase_I	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1015_1016	+			136					A6NK29|A8K2B1|Q5SW76|Q8TB91	Frame_Shift_Ins	INS	ENST00000366958.4	37	c.407_408insC	CCDS31021.1																																																																																				0.530	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		12	375						12	375	---	---	---	---
TRIM17	51127	broad.mit.edu	37	1	228596934	228596935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:228596934_228596935insG	ENST00000366697.2	-	5	1777_1778	c.821_822insC	c.(820-822)ccafs	p.P274fs	RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.P274fs|TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.P274fs|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.P274fs|TRIM11_ENST00000284551.6_5'Flank|TRIM11_ENST00000366699.3_5'Flank			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	274					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TGGGTCTGGTTGGGGGGGCAAC	0.579																																						ENST00000366697.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(820-822)cacfs		tripartite motif containing 17																																				SO:0001589	frameshift_variant	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228596934_228596935insG	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.822dupC	1.37:g.228596941_228596941dupG	ENSP00000355658:p.Pro274fs		Somatic				TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.H274fs|RP11-245P10.4_ENST00000436779.1_RNA	p.H274fs			WXS	Illumina GAIIx	Phase_I	Q9Y577	TRI17_HUMAN			5	1777_1778	-		Prostate(94;0.0724)	274					B4DVJ2|Q5VST8	Frame_Shift_Ins	INS	ENST00000366697.2	37	c.821_822insC	CCDS1571.1																																																																																				0.579	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		12	210						12	210	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:229567546_229567547insC	ENST00000366684.3	-	6	1013_1014	c.911_912insG	c.(910-912)ggcfs	p.G304fs	ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.G216fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	304					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				ACATCGTGGTGCCCCCCGACAT	0.589																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(910-912)gacfs		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)																																			SO:0001589	frameshift_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567546_229567547insC	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.912dupG	1.37:g.229567552_229567552dupC	ENSP00000355645:p.Gly304fs		Somatic				ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs	p.D304fs	NM_001100.3	NP_001091.1	WXS	Illumina GAIIx	Phase_I	P68133	ACTS_HUMAN			6	1013_1014	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	304					P02568|P99020|Q5T8M9	Frame_Shift_Ins	INS	ENST00000366684.3	37	c.911_912insG	CCDS1578.1																																																																																				0.589	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		9	262						9	262	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)caafs	p.Q150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.Q150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.49																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(448-450)aagfs		signal-induced proliferation-associated 1 like 2																																				SO:0001589	frameshift_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650637_232650638insG	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.449dupC	1.37:g.232650643_232650643dupG	ENSP00000355589:p.Gln150fs		Somatic				SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs	p.K150fs			WXS	Illumina GAIIx	Phase_I	Q9P2F8	SI1L2_HUMAN			2	806_807	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	150					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Frame_Shift_Ins	INS	ENST00000366630.1	37	c.448_449insC	CCDS41474.1																																																																																				0.490	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		11	665						11	665	---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25523008	25523009	+	Splice_Site	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:25523008_25523009insG	ENST00000264709.3	-	3	513_514	c.176_177insC	c.(175-177)ccg>ccCg	p.P59fs	DNMT3A_ENST00000321117.5_Splice_Site_p.P59fs|DNMT3A_ENST00000406659.3_Splice_Site_p.P59fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	59					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACACTCACCGGGGGGTGCTT	0.649			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.e3+1		DNA (cytosine-5-)-methyltransferase 3 alpha																																				SO:0001630	splice_region_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25523008_25523009insG		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.177+1->C	2.37:g.25523014_25523014dupG			Somatic				DNMT3A_ENST00000406659.3_Splice_Site_p.R59_splice|DNMT3A_ENST00000321117.5_Splice_Site_p.R59_splice	p.R59_splice	NM_175629.2	NP_783328.1	WXS	Illumina GAIIx	Phase_I	Q9Y6K1	DNM3A_HUMAN			3	513_514	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		59					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Splice_Site	INS	ENST00000264709.3	37	c.177_splice	CCDS33157.1																																																																																				0.649	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	Frame_Shift_Ins	11	136						11	136	---	---	---	---
NRBP1	29959	broad.mit.edu	37	2	27658017	27658018	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:27658017_27658018insC	ENST00000233557.3	+	8	1416_1417	c.584_585insC	c.(583-588)gaccccfs	p.DP195fs	NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.DP195fs|NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.DP195fs			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CACTCCTGTGACCCCCCCATCA	0.589																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(583-585)gccfs		nuclear receptor binding protein 1																																				SO:0001589	frameshift_variant	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27658017_27658018insC	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.591dupC	2.37:g.27658024_27658024dupC	ENSP00000233557:p.Asp195fs		Somatic				NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.A195fs|NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.A195fs	p.A195fs			WXS	Illumina GAIIx	Phase_I	Q9UHY1	NRBP_HUMAN			8	1416_1417	+	Acute lymphoblastic leukemia(172;0.155)		195			Protein kinase.		B3KV40|D6W558|Q53FZ5|Q96SU3	Frame_Shift_Ins	INS	ENST00000233557.3	37	c.584_585insC	CCDS1753.1																																																																																				0.589	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		12	313						12	313	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27684150	27684150	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:27684150delC	ENST00000260570.3	-	22	2531	c.2428delG	c.(2428-2430)gaafs	p.E810fs		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	810					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCGTAGAGTTCCCCCTTGATA	0.567																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(2428-2430)aafs		intraflagellar transport 172 homolog (Chlamydomonas)							117.0	105.0	109.0					2																	27684150		2203	4300	6503	SO:0001589	frameshift_variant	26160				cilium assembly	cilium	binding	g.chr2:27684150delC	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2428delG	2.37:g.27684150delC	ENSP00000260570:p.Glu810fs		Somatic					p.E810fs	NM_015662.1	NP_056477.1	WXS	Illumina GAIIx	Phase_I	Q9UG01	IF172_HUMAN			22	2531	-	Acute lymphoblastic leukemia(172;0.155)		810					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Frame_Shift_Del	DEL	ENST00000260570.3	37	c.2428delG	CCDS1755.1																																																																																				0.567	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		151	250						151	250	---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)tccfs	p.S442fs	RNU6-1216P_ENST00000362590.2_RNA|RNA5SP96_ENST00000516041.1_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1324-1326)cccfs		anthrax toxin receptor 1																																				SO:0001589	frameshift_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69409763_69409764insC	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1330dupC	2.37:g.69409769_69409769dupC	ENSP00000301945:p.Ser442fs		Somatic					p.P442fs	NM_032208.2	NP_115584.1	WXS	Illumina GAIIx	Phase_I	Q9H6X2	ANTR1_HUMAN			16	1646_1647	+			442					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Frame_Shift_Ins	INS	ENST00000303714.4	37	c.1324_1325insC	CCDS1892.1																																																																																				0.421	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		10	502						10	502	---	---	---	---
ADD2	119	broad.mit.edu	37	2	70905849	70905850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:70905849_70905850insG	ENST00000264436.4	-	11	1813_1814	c.1369_1370insC	c.(1369-1371)cgafs	p.R457fs	ADD2_ENST00000430656.1_Frame_Shift_Ins_p.R473fs|ADD2_ENST00000355733.3_Frame_Shift_Ins_p.R457fs|ADD2_ENST00000407644.2_Frame_Shift_Ins_p.R457fs|ADD2_ENST00000413157.2_Frame_Shift_Ins_p.R457fs	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	457					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGTCTTGGGTCGGGGGCTGCCC	0.594																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1369-1371)accfs		adducin 2 (beta)																																				SO:0001589	frameshift_variant	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70905849_70905850insG	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1370dupC	2.37:g.70905854_70905854dupG	ENSP00000264436:p.Arg457fs		Somatic				ADD2_ENST00000355733.3_Frame_Shift_Ins_p.T457fs|ADD2_ENST00000430656.1_Frame_Shift_Ins_p.T473fs|ADD2_ENST00000407644.2_Frame_Shift_Ins_p.T457fs|ADD2_ENST00000413157.2_Frame_Shift_Ins_p.T457fs	p.T457fs	NM_001617.3	NP_001608.1	WXS	Illumina GAIIx	Phase_I	P35612	ADDB_HUMAN			11	1813_1814	-			457					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Frame_Shift_Ins	INS	ENST00000264436.4	37	c.1369_1370insC	CCDS1906.1																																																																																				0.594	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		10	1380						10	1380	---	---	---	---
NAT8	9027	broad.mit.edu	37	2	73868515	73868516	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:73868515_73868516insT	ENST00000272425.3	-	2	389_390	c.240_241insA	c.(238-243)aaacccfs	p.P81fs		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TCCGTCCAGGGTTTTTTGGCAA	0.564																																						ENST00000272425.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(238-243)aacctgfs		N-acetyltransferase 8 (GCN5-related, putative)																																				SO:0001589	frameshift_variant	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868515_73868516insT	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.241dupA	2.37:g.73868521_73868521dupT	ENSP00000272425:p.Pro81fs		Somatic					p.NL80fs	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	WXS	Illumina GAIIx	Phase_I	Q9UHE5	NAT8_HUMAN			2	389_390	-			80			N-acetyltransferase.			Frame_Shift_Ins	INS	ENST00000272425.3	37	c.240_241insA	CCDS1926.1																																																																																				0.564	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		8	472						8	472	---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74480126	74480127	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:74480126_74480127insG	ENST00000377634.4	-	15	1641_1642	c.1242_1243insC	c.(1240-1245)cccaagfs	p.K415fs	SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.K351fs|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.K351fs|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Frame_Shift_Ins_p.K415fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.K415fs					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGCACCTTCTTGGGGGGCTCAA	0.475																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1240-1245)ccagaafs		solute carrier family 4 (sodium bicarbonate cotransporter), member 5																																				SO:0001589	frameshift_variant	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74480126_74480127insG	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1243dupC	2.37:g.74480132_74480132dupG	ENSP00000366861:p.Lys415fs		Somatic				SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000377634.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.E415fs	p.E415fs	NM_133478.2	NP_597812.1	WXS	Illumina GAIIx	Phase_I	Q9BY07	S4A5_HUMAN			15	1639_1640	-			415						Frame_Shift_Ins	INS	ENST00000377634.4	37	c.1242_1243insC	CCDS1936.1																																																																																				0.475	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			9	300						9	300	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:74593376_74593377insG	ENST00000361874.3	-	23	3071_3072	c.2754_2755insC	c.(2752-2757)cccagcfs	p.S919fs	DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.S785fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.S785fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.S912fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.S902fs|RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.S899fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.S882fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	919					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGCT	0.559																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(2752-2757)ccgcaafs		dynactin 1																																				SO:0001589	frameshift_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74593376_74593377insG		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2755dupC	2.37:g.74593382_74593382dupG	ENSP00000354791:p.Ser919fs		Somatic				DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs	p.Q919fs	NM_004082.4	NP_004073.2	WXS	Illumina GAIIx	Phase_I	Q14203	DCTN1_HUMAN			23	3071_3072	-			919					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Frame_Shift_Ins	INS	ENST00000361874.3	37	c.2754_2755insC	CCDS1939.1																																																																																				0.559	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		9	944						9	944	---	---	---	---
WDR54	84058	broad.mit.edu	37	2	74653449	74653450	+	IGR	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:74653449_74653450insG	ENST00000348227.4	+	0	1147				RTKN_ENST00000305557.5_Frame_Shift_Ins_p.L525fs|RTKN_ENST00000272430.5_Frame_Shift_Ins_p.L538fs|RTKN_ENST00000233330.6_Frame_Shift_Ins_p.L488fs	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						CTGAGGTGGGAGGGGGGCAACC	0.653																																						ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1573-1575)cccfs		rhotekin																																				SO:0001628	intergenic_variant	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74653449_74653450insG	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74653455_74653455dupG			Somatic				RTKN_ENST00000233330.6_Frame_Shift_Ins_p.P488fs|RTKN_ENST00000272430.5_Frame_Shift_Ins_p.P538fs	p.P525fs	NM_033046.2	NP_149035.1	WXS	Illumina GAIIx	Phase_I	Q9BST9	RTKN_HUMAN			13	2158_2159	-			538			Pro-rich.		D6W5I3|Q53H85|Q86V45	Frame_Shift_Ins	INS	ENST00000348227.4	37	c.1573_1574insC	CCDS1940.1																																																																																				0.653	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		12	317						12	317	---	---	---	---
PCGF1	84759	broad.mit.edu	37	2	74732899	74732900	+	Splice_Site	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:74732899_74732900insG	ENST00000233630.6	-	6	1442		c.e6-2		LBX2_ENST00000460508.3_5'Flank|LBX2_ENST00000341396.2_5'Flank|LBX2_ENST00000550249.1_5'Flank|LBX2-AS1_ENST00000603175.1_RNA|PCGF1_ENST00000480844.2_Splice_Site|LBX2-AS1_ENST00000548978.2_RNA	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TTGCCAGAACTGGGGGGAAATA	0.53																																						ENST00000233630.6																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						c.e6-2		polycomb group ring finger 1																																				SO:0001630	splice_region_variant	84759				histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding	g.chr2:74732899_74732900insG	AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.531-2->C	2.37:g.74732905_74732905dupG			Somatic				PCGF1_ENST00000480844.2_Splice_Site		NM_032673.2	NP_116062.2	WXS	Illumina GAIIx	Phase_I	Q9BSM1	PCGF1_HUMAN			6	1442	-								Q7Z506	Splice_Site	INS	ENST00000233630.6	37		CCDS1946.2																																																																																				0.530	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673	Intron	7	500						7	500	---	---	---	---
HK2	3099	broad.mit.edu	37	2	75113706	75113707	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:75113706_75113707insG	ENST00000290573.2	+	15	2725_2726	c.2125_2126insG	c.(2125-2127)tggfs	p.W709fs	HK2_ENST00000409174.1_Frame_Shift_Ins_p.W681fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	709	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GAACATGGAATGGGGGGCCTTC	0.564																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(2125-2127)gggfs		hexokinase 2																																				SO:0001589	frameshift_variant	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75113706_75113707insG		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2131dupG	2.37:g.75113712_75113712dupG	ENSP00000290573:p.Trp709fs		Somatic				HK2_ENST00000409174.1_Frame_Shift_Ins_p.G681fs	p.G709fs	NM_000189.4	NP_000180.2	WXS	Illumina GAIIx	Phase_I	P52789	HXK2_HUMAN			15	2725_2726	+			709			Catalytic.		D6W5J2|Q8WU87|Q9UN82	Frame_Shift_Ins	INS	ENST00000290573.2	37	c.2125_2126insG	CCDS1956.1																																																																																				0.564	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		7	571						7	571	---	---	---	---
LINC00152	112597	broad.mit.edu	37	2	87865524	87865525	+	lincRNA	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:87865524_87865525insC	ENST00000409054.1	+	0	278					NR_015395.1				long intergenic non-protein coding RNA 152																		AAAATAAATTTCCCCCCAGAAC	0.455																																						ENST00000409054.1																			0																																																			112597							g.chr2:87865524_87865525insC	BC009508		2p11.2	2014-02-14	2011-08-11	2011-08-11	ENSG00000222041	ENSG00000222041		"""Long non-coding RNAs"""	28717	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 59"", ""non-protein coding RNA 152"""	C2orf59, NCRNA00152		24523021, 23801869, 22689435, 24036268	Standard	NR_024204		Approved	MGC4677	uc002ssk.4		OTTHUMG00000130273		2.37:g.87865530_87865530dupC			Somatic						NR_015395.1		WXS	Illumina GAIIx	Phase_I					0	278	+									RNA	INS	ENST00000409054.1	37																																																																																						0.455	LINC00152-005	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000330387.3	XR_042051		8	494						8	494	---	---	---	---
EDAR	10913	broad.mit.edu	37	2	109539836	109539837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:109539836_109539837insG	ENST00000258443.2	-	5	859_860	c.429_430insC	c.(427-432)cccaacfs	p.N144fs	EDAR_ENST00000376651.1_Frame_Shift_Ins_p.N144fs|EDAR_ENST00000409271.1_Frame_Shift_Ins_p.N144fs	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	144					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TCCTTGGTGTTGGGGGGTGCCA	0.535																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(427-432)ccacacfs		ectodysplasin A receptor																																				SO:0001589	frameshift_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109539836_109539837insG	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.430dupC	2.37:g.109539842_109539842dupG	ENSP00000258443:p.Asn144fs		Somatic				EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000376651.1_Frame_Shift_Ins_p.H144fs	p.H144fs			WXS	Illumina GAIIx	Phase_I	Q9UNE0	EDAR_HUMAN			6	872_873	-			144					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Frame_Shift_Ins	INS	ENST00000258443.2	37	c.429_430insC	CCDS2081.1																																																																																				0.535	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			12	573						12	573	---	---	---	---
SAP130	79595	broad.mit.edu	37	2	128774049	128774050	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:128774049_128774050insG	ENST00000259235.3	-	4	627_628	c.498_499insC	c.(496-501)cccaagfs	p.K167fs	SAP130_ENST00000357702.5_Frame_Shift_Ins_p.K167fs|SAP130_ENST00000259234.6_Frame_Shift_Ins_p.K141fs	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	167	Pro-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCTGGAACCTTGGGGGGAAGTG	0.53																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(496-501)ccaggtfs		Sin3A-associated protein, 130kDa																																				SO:0001589	frameshift_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128774049_128774050insG	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.499dupC	2.37:g.128774055_128774055dupG	ENSP00000259235:p.Lys167fs		Somatic				SAP130_ENST00000259235.3_Frame_Shift_Ins_p.G167fs|SAP130_ENST00000259234.6_Frame_Shift_Ins_p.G141fs	p.G167fs	NM_001145928.1	NP_001139400.1	WXS	Illumina GAIIx	Phase_I	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	4	629_630	-	Colorectal(110;0.1)		167			Pro-rich.		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Frame_Shift_Ins	INS	ENST00000259235.3	37	c.498_499insC	CCDS2153.1																																																																																				0.530	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		8	284						8	284	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133541083	133541084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:133541083_133541084insG	ENST00000409261.1	-	14	3673_3674	c.3300_3301insC	c.(3298-3303)cccaagfs	p.K1101fs	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.K1101fs|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1101	Ser-rich.									NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAGGAAGGCTTGGGGGGTGTGG	0.505																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3298-3303)ccagccfs		NCK-associated protein 5																																				SO:0001589	frameshift_variant	344148						protein binding	g.chr2:133541083_133541084insG	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3301dupC	2.37:g.133541089_133541089dupG	ENSP00000387128:p.Lys1101fs		Somatic				NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.A1101fs|NCKAP5_ENST00000409213.1_Intron	p.A1101fs	NM_207363.2	NP_997246.2	WXS	Illumina GAIIx	Phase_I	O14513	NCKP5_HUMAN			14	3673_3674	-			1101			Ser-rich.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Frame_Shift_Ins	INS	ENST00000409261.1	37	c.3300_3301insC	CCDS46418.1																																																																																				0.505	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		12	776						12	776	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163250997	163250997	+	Splice_Site	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:163250997delT	ENST00000332142.5	-	12	2713		c.e12-2			NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7						circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GAGATCAGCCTTTGTTAATGG	0.323																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.e12-2		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						120.0	111.0	114.0					2																	163250997		2203	4298	6501	SO:0001630	splice_region_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163250997delT	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2614-2A>-	2.37:g.163250997delT			Somatic						NM_033272.3	NP_150375.2	WXS	Illumina GAIIx	Phase_I	Q9NS40	KCNH7_HUMAN			12	2713	-								Q53QU4|Q53TB7|Q53TP9|Q8IV15	Splice_Site	DEL	ENST00000332142.5	37		CCDS2219.1																																																																																				0.323	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	Intron	63	132						63	132	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163256860	163256861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:163256860_163256861insC	ENST00000332142.5	-	10	2344_2345	c.2245_2246insG	c.(2245-2247)gcafs	p.A749fs		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	749					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.A749fs*3(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACCTTTACTTGCCCCCCGAAAG	0.485																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			1	Insertion - Frameshift(1)	p.A749fs*3(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(2245-2247)aagfs		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)																																			SO:0001589	frameshift_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163256860_163256861insC	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2246dupG	2.37:g.163256866_163256866dupC	ENSP00000331727:p.Ala749fs		Somatic					p.K749fs	NM_033272.3	NP_150375.2	WXS	Illumina GAIIx	Phase_I	Q9NS40	KCNH7_HUMAN			10	2344_2345	-			749					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Frame_Shift_Ins	INS	ENST00000332142.5	37	c.2245_2246insG	CCDS2219.1																																																																																				0.485	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		7	298						7	298	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164467542	164467543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:164467542_164467543insC	ENST00000333129.3	-	3	1113_1114	c.799_800insG	c.(799-801)gcafs	p.A267fs	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	267	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.A267fs*100(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609																																						ENST00000333129.3																			2	Insertion - Frameshift(2)	p.A267fs*100(2)	large_intestine(2)	breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(799-801)accfs		fidgetin																																				SO:0001589	frameshift_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467542_164467543insC	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.800dupG	2.37:g.164467549_164467549dupC	ENSP00000333836:p.Ala267fs		Somatic				FIGN_ENST00000409634.1_Intron	p.T267fs	NM_018086.2	NP_060556.2	WXS	Illumina GAIIx	Phase_I	Q5HY92	FIGN_HUMAN			3	1113_1114	-			267			Pro-rich.		B3KWM0|Q9H6M5|Q9NVZ9	Frame_Shift_Ins	INS	ENST00000333129.3	37	c.799_800insG	CCDS2221.2																																																																																				0.609	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		7	155						7	155	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2056-2058)gggfs	p.G686fs	XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G464fs|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G686fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	511					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2053-2058)acggggfs		xin actin-binding repeat containing 2																																				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099957_168099958insG	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2062dupG	2.37:g.168099964_168099964dupG	ENSP00000386840:p.Gly686fs		Somatic				XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	p.TG685fs	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	2144_2145	+			510					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Ins	INS	ENST00000409195.1	37	c.2055_2056insG	CCDS42769.1																																																																																				0.421	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		16	324						16	324	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:171240258_171240259insC	ENST00000408978.4	+	12	1367_1368	c.1224_1225insC	c.(1225-1227)cccfs	p.P409fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Frame_Shift_Ins_p.P418fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.P409fs	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	409	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1249-1254)aaccccfs		myosin IIIB																																				SO:0001589	frameshift_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171240258_171240259insC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1231dupC	2.37:g.171240265_171240265dupC	ENSP00000386213:p.Pro409fs		Somatic				MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs	p.NP417fs			WXS	Illumina GAIIx	Phase_I	Q8WXR4	MYO3B_HUMAN			12	1251_1252	+			408			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Frame_Shift_Ins	INS	ENST00000408978.4	37	c.1251_1252insC	CCDS42773.1																																																																																				0.465	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			15	355						15	355	---	---	---	---
AC096649.3	0	broad.mit.edu	37	2	176190119	176190259	+	lincRNA	DEL	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	-	rs538185784|rs6729868|rs558558768|rs186801826|rs66540730|rs576825072|rs556396380|rs377343814	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	ENST00000438963.1	+	0	247																											gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa	0.44																																						ENST00000438963.1																			0																																																			0							g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT																													2.37:g.176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT			Somatic								WXS	Illumina GAIIx	Phase_I					0	247	+									RNA	DEL	ENST00000438963.1	37																																																																																						0.440	AC096649.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000334503.1			250	744						250	744	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G	rs567294324		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)aggfs	p.R559fs	ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.R513fs|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.R523fs|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GACTATTTCAAGGGGGGGACTG	0.431																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1675-1677)gggfs		integrin, alpha V																																				SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521084_187521085insG		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1682dupG	2.37:g.187521091_187521091dupG	ENSP00000261023:p.Arg559fs		Somatic				ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs	p.G559fs	NM_002210.3	NP_002201.1	WXS	Illumina GAIIx	Phase_I	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	17	1949_1950	+			559					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Ins	INS	ENST00000261023.3	37	c.1675_1676insG	CCDS2292.1																																																																																				0.431	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		15	610						15	610	---	---	---	---
CTLA4	1493	broad.mit.edu	37	2	204736165	204736166	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:204736165_204736166insT	ENST00000302823.3	+	3	679_680	c.522_523insT	c.(523-525)tttfs	p.F175fs	CTLA4_ENST00000295854.6_Intron|CTLA4_ENST00000472206.1_Intron|CTLA4_ENST00000487393.1_Intron|CTLA4_ENST00000427473.2_Intron	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	175					B cell receptor signaling pathway (GO:0050853)|cellular response to DNA damage stimulus (GO:0006974)|immune response (GO:0006955)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of immune response (GO:0050777)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of apoptotic process (GO:0043065)|T cell costimulation (GO:0031295)	clathrin-coated endocytic vesicle (GO:0045334)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				large_intestine(4)|lung(4)|skin(1)	9					Ipilimumab(DB06186)	GTTCGGGGTTGTTTTTTTATAG	0.475																																						ENST00000302823.3																			0				large_intestine(4)|lung(4)|skin(1)	9						c.(520-525)ttttttfs		cytotoxic T-lymphocyte-associated protein 4	Abatacept(DB01281)																																			SO:0001589	frameshift_variant	1493				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm		g.chr2:204736165_204736166insT		CCDS2362.1, CCDS42803.1	2q33	2014-02-03			ENSG00000163599	ENSG00000163599		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	2505	protein-coding gene	gene with protein product		123890	"""celiac disease 3"", ""insulin-dependent diabetes mellitus 12"""	CELIAC3, IDDM12		3220103, 8817351	Standard	NM_005214		Approved	CD152, CD, GSE, CD28, ICOS	uc002vak.2	P16410	OTTHUMG00000132877	ENST00000302823.3:c.529dupT	2.37:g.204736172_204736172dupT	ENSP00000303939:p.Phe175fs		Somatic				CTLA4_ENST00000427473.2_Intron|CTLA4_ENST00000487393.1_Intron|CTLA4_ENST00000472206.1_Intron|CTLA4_ENST00000295854.6_Intron	p.FF174fs	NM_005214.4	NP_005205.2	WXS	Illumina GAIIx	Phase_I	P16410	CTLA4_HUMAN			3	679_680	+			174					A0N1S0|E9PDH0|O95653|Q0PP65|Q52MC1|Q53TD5|Q5S005|Q8WXJ1|Q96P43|Q9UKN9	Frame_Shift_Ins	INS	ENST00000302823.3	37	c.522_523insT	CCDS2362.1																																																																																				0.475	CTLA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256365.1	NM_005214		7	962						7	962	---	---	---	---
ATIC	471	broad.mit.edu	37	2	216182915	216182916	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:216182915_216182916insG	ENST00000236959.9	+	3	508_509	c.182_183insG	c.(181-186)ttggggfs	p.LG61fs	ATIC_ENST00000540518.1_Frame_Shift_Ins_p.LG2fs|ATIC_ENST00000435675.1_Frame_Shift_Ins_p.LG60fs	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	61					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CCTGAAATGTTGGGGGGACGTG	0.396			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(178-180)tggfs		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)																																			SO:0001589	frameshift_variant	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216182915_216182916insG		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.188dupG	2.37:g.216182921_216182921dupG	ENSP00000236959:p.Leu61fs		Somatic				ATIC_ENST00000236959.9_Frame_Shift_Ins_p.W61fs|ATIC_ENST00000540518.1_Frame_Shift_Ins_p.W2fs	p.W60fs			WXS	Illumina GAIIx	Phase_I	P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	2	570_571	+		Renal(323;0.229)	61					A8K202|E9PBU3|Q13856|Q53S28	Frame_Shift_Ins	INS	ENST00000236959.9	37	c.179_180insG	CCDS2398.1																																																																																				0.396	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		10	570						10	570	---	---	---	---
RUFY4	285180	broad.mit.edu	37	2	218940309	218940310	+	Frame_Shift_Ins	INS	-	-	G	rs377110484		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:218940309_218940310insG	ENST00000344321.7	+	9	1612_1613	c.1094_1095insG	c.(1093-1098)tcggggfs	p.SG365fs	RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000374155.3_Frame_Shift_Ins_p.SG385fs|RUFY4_ENST00000441828.2_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	365							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCTA	0.594																																						ENST00000374155.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1153-1155)tggfs		RUN and FYVE domain containing 4																																				SO:0001589	frameshift_variant	285180						metal ion binding	g.chr2:218940309_218940310insG	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1100dupG	2.37:g.218940315_218940315dupG	ENSP00000345900:p.Ser365fs		Somatic				RUFY4_ENST00000344321.7_Frame_Shift_Ins_p.W365fs|RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR	p.W385fs			WXS	Illumina GAIIx	Phase_I	Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1564_1565	+		Renal(207;0.0915)	365					Q6ZR96	Frame_Shift_Ins	INS	ENST00000344321.7	37	c.1154_1155insG																																																																																					0.594	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		8	253						8	253	---	---	---	---
VIL1	7429	broad.mit.edu	37	2	219301984	219301985	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:219301984_219301985insC	ENST00000248444.5	+	17	2197_2198	c.2109_2110insC	c.(2110-2112)cccfs	p.P704fs	VIL1_ENST00000392114.2_Frame_Shift_Ins_p.P393fs	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	704	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGACACGAGCCCCCCACCTT	0.594																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2107-2112)gaccccfs		villin 1																																				SO:0001589	frameshift_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219301984_219301985insC	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.2115dupC	2.37:g.219301990_219301990dupC	ENSP00000248444:p.Pro704fs		Somatic				VIL1_ENST00000392114.2_Frame_Shift_Ins_p.DP392fs	p.DP703fs	NM_007127.2	NP_009058.2	WXS	Illumina GAIIx	Phase_I	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	2197_2198	+		Renal(207;0.0474)	703			Core.		B2R9A7|Q53S11|Q96AC8	Frame_Shift_Ins	INS	ENST00000248444.5	37	c.2109_2110insC	CCDS2417.1																																																																																				0.594	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		7	315						7	315	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-942)tgccccfs	p.CP313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TCAGTGCCATGCCCCCCCAAGG	0.619																																						ENST00000272907.6																			0											c.(937-939)tccfs		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2																																				SO:0001589	frameshift_variant	57624							g.chr2:226447071_226447072insC	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.945dupC	2.37:g.226447078_226447078dupC	ENSP00000272907:p.Cys313fs		Somatic				NYAP2_ENST00000409269.2_Intron	p.S313fs	NM_020864.1	NP_065915.1	WXS	Illumina GAIIx	Phase_I	Q9P242	K1486_HUMAN			4	1351_1352	+			313			Pro-rich.		A2RRN4|Q96NL2	Frame_Shift_Ins	INS	ENST00000272907.6	37	c.938_939insC	CCDS46529.1																																																																																				0.619	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		14	138						14	138	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C	rs373650820		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)gccfs	p.A404fs	INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.A403fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.A168fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(1210-1212)cccfs		inositol polyphosphate-5-phosphatase, 145kDa																																				SO:0001589	frameshift_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234072358_234072359insC	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1217dupC	2.37:g.234072365_234072365dupC	ENSP00000352575:p.Ala404fs		Somatic				INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs	p.P404fs			WXS	Illumina GAIIx	Phase_I	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	14	1210_1211	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	416					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Frame_Shift_Ins	INS	ENST00000359570.5	37	c.1210_1211insC																																																																																					0.535	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		32	641						32	641	---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234365951	234365952	+	Frame_Shift_Ins	INS	-	-	G	rs35538077		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:234365951_234365952insG	ENST00000264057.2	+	21	2569_2570	c.2557_2558insG	c.(2557-2559)tggfs	p.W853fs	DGKD_ENST00000409813.3_Frame_Shift_Ins_p.W809fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	853					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AACCAACTTCTGGGGGGGTACC	0.579																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(2557-2559)gggfs		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234365951_234365952insG	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2564dupG	2.37:g.234365958_234365958dupG	ENSP00000264057:p.Trp853fs		Somatic				DGKD_ENST00000409813.3_Frame_Shift_Ins_p.G809fs	p.G853fs	NM_152879.2	NP_690618.2	WXS	Illumina GAIIx	Phase_I	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	21	2569_2570	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	853					Q14158|Q6PK55|Q8NG53	Frame_Shift_Ins	INS	ENST00000264057.2	37	c.2557_2558insG	CCDS2504.1																																																																																				0.579	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		13	156						13	156	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cacfs	p.H202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.H242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.H202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		AATCACCAGGTGGGGGGGCAGG	0.535																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(604-606)cctfs		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240954220_240954221insG	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.605dupC	2.37:g.240954227_240954227dupG	ENSP00000252711:p.His202fs		Somatic				NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	p.P202fs	NM_004544.3	NP_004535.1	WXS	Illumina GAIIx	Phase_I	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	5	704_705	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	202					Q8WXC9	Frame_Shift_Ins	INS	ENST00000252711.2	37	c.604_605insC	CCDS2531.1																																																																																				0.535	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		16	341						16	341	---	---	---	---
PPP1R7	5510	broad.mit.edu	37	2	242092998	242092999	+	Frame_Shift_Ins	INS	-	-	G	rs140300724|rs372463197		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:242092998_242092999insG	ENST00000234038.6	+	2	634_635	c.160_161insG	c.(160-162)cggfs	p.R54fs	PPP1R7_ENST00000407025.1_Frame_Shift_Ins_p.R54fs|PPP1R7_ENST00000404405.3_Frame_Shift_Ins_p.R54fs|PPP1R7_ENST00000272983.8_Intron|PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000406106.3_Frame_Shift_Ins_p.R54fs	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	54					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TGGGGAGGAGCGGGGGGAGGAG	0.629																																					NSCLC(62;446 1299 5417 11238 27640)	ENST00000234038.6																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23						c.(160-162)gggfs		protein phosphatase 1, regulatory subunit 7																																				SO:0001589	frameshift_variant	5510					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	g.chr2:242092998_242092999insG	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.166dupG	2.37:g.242093004_242093004dupG	ENSP00000234038:p.Arg54fs		Somatic				PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000406106.3_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000404405.3_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000407025.1_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000272983.8_Intron	p.G54fs	NM_002712.1	NP_002703.1	WXS	Illumina GAIIx	Phase_I	Q15435	PP1R7_HUMAN		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	2	634_635	+		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	54					B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Frame_Shift_Ins	INS	ENST00000234038.6	37	c.160_161insG	CCDS2546.1																																																																																				0.629	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		7	286						7	286	---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4712502	4712503	+	Frame_Shift_Ins	INS	-	-	G	rs149971162		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:4712502_4712503insG	ENST00000443694.2	+	17	2051_2052	c.2051_2052insG	c.(2050-2055)ctgtttfs	p.F685fs	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Frame_Shift_Ins_p.F685fs|ITPR1_ENST00000456211.2_Frame_Shift_Ins_p.F685fs|ITPR1_ENST00000354582.6_Frame_Shift_Ins_p.F700fs|ITPR1_ENST00000423119.2_Frame_Shift_Ins_p.F700fs|ITPR1_ENST00000357086.4_Frame_Shift_Ins_p.F700fs			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	700					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GAGGTGTGGCTGTTTTGGAGGG	0.49																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(2095-2097)cttfs		inositol 1,4,5-trisphosphate receptor, type 1																																				SO:0001589	frameshift_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4712502_4712503insG	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2052dupG	3.37:g.4712503_4712503dupG	ENSP00000401671:p.Phe685fs		Somatic				ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Frame_Shift_Ins_p.L684fs|ITPR1_ENST00000456211.2_Frame_Shift_Ins_p.L684fs|ITPR1_ENST00000357086.4_Frame_Shift_Ins_p.L699fs|ITPR1_ENST00000423119.2_Frame_Shift_Ins_p.L699fs|ITPR1_ENST00000302640.8_Frame_Shift_Ins_p.L684fs	p.L699fs			WXS	Illumina GAIIx	Phase_I	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	20	2446_2447	+			699					E7EPX7|E9PDE9|Q14660|Q99897	Frame_Shift_Ins	INS	ENST00000443694.2	37	c.2096_2097insG	CCDS54551.1																																																																																				0.490	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		7	33						7	33	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gtgfs	p.V850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.V826fs	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2548-2550)gatfs		SLIT-ROBO Rho GTPase activating protein 3																																				SO:0001589	frameshift_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9034599_9034600insC	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2549dupG	3.37:g.9034606_9034606dupC	ENSP00000373347:p.Val850fs		Somatic				SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	p.D850fs	NM_014850.3	NP_055665.1	WXS	Illumina GAIIx	Phase_I	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	20	2975_2976	-			850					Q8IX13|Q8IZV8	Frame_Shift_Ins	INS	ENST00000383836.3	37	c.2548_2549insG	CCDS2572.1																																																																																				0.554	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			9	94						9	94	---	---	---	---
VILL	50853	broad.mit.edu	37	3	38043303	38043304	+	Frame_Shift_Ins	INS	-	-	C	rs374442833		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:38043303_38043304insC	ENST00000283713.6	+	13	1697_1698	c.1431_1432insC	c.(1432-1434)cccfs	p.P478fs	VILL_ENST00000383759.2_Frame_Shift_Ins_p.P478fs|VILL_ENST00000465644.1_Frame_Shift_Ins_p.P196fs			O15195	VILL_HUMAN	villin-like	478					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.H480fs*38(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGGCAGCGAGCCCCCCCACTT	0.594																																						ENST00000283713.6																			1	Insertion - Frameshift(1)	p.H480fs*38(1)	ovary(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(1429-1434)gaccccfs		villin-like				6,4260		0,6,2127						5.0	1.0			127	3,8251		0,3,4124	no	frameshift	VILL	NM_015873.3		0,9,6251	A1A1,A1R,RR		0.0363,0.1406,0.0719				9,12511				SO:0001589	frameshift_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38043303_38043304insC		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1438dupC	3.37:g.38043310_38043310dupC	ENSP00000283713:p.Pro478fs		Somatic				VILL_ENST00000383759.2_Frame_Shift_Ins_p.DP477fs|VILL_ENST00000465644.1_Frame_Shift_Ins_p.DP195fs	p.DP477fs			WXS	Illumina GAIIx	Phase_I	O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	13	1697_1698	+			477					A8MZP1|Q9BT80|Q9BWH7	Frame_Shift_Ins	INS	ENST00000283713.6	37	c.1431_1432insC	CCDS2670.2																																																																																				0.594	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		8	163						8	163	---	---	---	---
SLC38A3	10991	broad.mit.edu	37	3	50255143	50255144	+	RNA	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:50255143_50255144insC	ENST00000420502.1	+	0	879_880									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		CCTGCCCACTGCCCCCCAACTT	0.584																																						ENST00000420502.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)	6								solute carrier family 38, member 3	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)																																					10991				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity	g.chr3:50255143_50255144insC	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50255149_50255149dupC			Somatic								WXS	Illumina GAIIx	Phase_I	Q99624	S38A3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	0	879_880	+									RNA	INS	ENST00000420502.1	37																																																																																						0.584	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		7	92						7	92	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52597506	52597506	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:52597506delT	ENST00000296302.7	-	24	3880	c.3879delA	c.(3877-3879)aaafs	p.K1293fs	PBRM1_ENST00000394830.3_Frame_Shift_Del_p.K1268fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.K1293fs|RNU6ATAC16P_ENST00000408591.1_RNA|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.K1293fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.K1261fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.K1308fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.K1268fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.K1308fs			Q86U86	PB1_HUMAN	polybromo 1	1293					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAACAATTGGTTTTCTGAAAA	0.408			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3781-3783)aafs		polybromo 1							85.0	80.0	81.0					3																	52597506		2203	4300	6503	SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52597506delT	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3879delA	3.37:g.52597506delT	ENSP00000296302:p.Lys1293fs		Somatic				PBRM1_ENST00000337303.4_Frame_Shift_Del_p.K1293fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.K1308fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.K1308fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.K1293fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.K1268fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.K1268fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.K1293fs	p.K1261fs			WXS	Illumina GAIIx	Phase_I	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	23	3785	-			1293			BAH 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37	c.3783delA																																																																																					0.408	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		112	37						112	37	---	---	---	---
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G	rs201949188		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(127-129)gggfs	p.G43fs	KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.G43fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.G43fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	43	BTB.				protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465																																						ENST00000355076.6																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(124-129)ttggggfs		potassium channel tetramerization domain containing 6																																				SO:0001589	frameshift_variant	200845					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr3:58486771_58486772insG	AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 6"""			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.133dupG	3.37:g.58486778_58486778dupG	ENSP00000347188:p.Gly43fs		Somatic				KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs	p.LG42fs	NM_153331.3	NP_699162.3	WXS	Illumina GAIIx	Phase_I	Q8NC69	KCTD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)	2	1109_1110	+			42			BTB.		B3KNI5|Q8NBS6|Q8TCA6	Frame_Shift_Ins	INS	ENST00000355076.6	37	c.126_127insG	CCDS2891.1																																																																																				0.465	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	NM_153331		16	449						16	449	---	---	---	---
B4GALT4	8702	broad.mit.edu	37	3	118937592	118937593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:118937592_118937593insC	ENST00000483209.1	-	6	1342_1343	c.701_702insG	c.(700-702)ggtfs	p.G234fs	B4GALT4_ENST00000467604.1_Frame_Shift_Ins_p.G234fs|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000393765.2_Frame_Shift_Ins_p.G234fs|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000359213.3_Frame_Shift_Ins_p.G234fs			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	234					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GGGCAGTAACACCCCCAAAATA	0.465																																						ENST00000467604.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14						c.(700-702)ggtfs		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	N-Acetyl-D-glucosamine(DB00141)																																			SO:0001589	frameshift_variant	8702				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	g.chr3:118937592_118937593insC	AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.702dupG	3.37:g.118937597_118937597dupC	ENSP00000420161:p.Gly234fs		Somatic				B4GALT4_ENST00000359213.3_Frame_Shift_Ins_p.G234fs|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000393765.2_Frame_Shift_Ins_p.G234fs|B4GALT4_ENST00000483209.1_Frame_Shift_Ins_p.G234fs	p.G234fs			WXS	Illumina GAIIx	Phase_I	O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	6	1092_1093	-			234					Q68D68|Q9BSW3|Q9C078	Frame_Shift_Ins	INS	ENST00000483209.1	37	c.701_702insG	CCDS2986.1																																																																																				0.465	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		7	407						7	407	---	---	---	---
PDIA5	10954	broad.mit.edu	37	3	122869088	122869089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:122869088_122869089insC	ENST00000316218.7	+	14	1245_1246	c.1150_1151insC	c.(1150-1152)gccfs	p.A384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.|Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGCCCTGAGGCCCCCCCGCCC	0.604																																						ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(1150-1152)cccfs		protein disulfide isomerase family A, member 5				3,4263		0,3,2130						2.4	1.0			51	1,8251		0,1,4125	no	frameshift	PDIA5	NM_006810.3		0,4,6255	A1A1,A1R,RR		0.0121,0.0703,0.032				4,12514				SO:0001589	frameshift_variant	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122869088_122869089insC	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1157dupC	3.37:g.122869095_122869095dupC	ENSP00000323313:p.Ala384fs		Somatic				PDIA5_ENST00000467157.1_3'UTR	p.P384fs	NM_006810.3	NP_006801.1	WXS	Illumina GAIIx	Phase_I	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	14	1245_1246	+			384			Thioredoxin 2.|Thioredoxin 3.		D3DN95|Q9BV43	Frame_Shift_Ins	INS	ENST00000316218.7	37	c.1150_1151insC	CCDS3020.1																																																																																				0.604	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		10	330						10	330	---	---	---	---
MUC13	56667	broad.mit.edu	37	3	124646628	124646629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:124646628_124646629insG	ENST00000311075.3	-	2	299_300	c.261_262insC	c.(259-264)cccatafs	p.I88fs	MUC13_ENST00000497378.1_5'Flank	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	89	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTACTAATTATGGGGGGAGCAG	0.441																																						ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(259-264)cctaatfs		mucin 13, cell surface associated																																				SO:0001589	frameshift_variant	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124646628_124646629insG	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.262dupC	3.37:g.124646634_124646634dupG	ENSP00000312235:p.Ile88fs		Somatic					p.N88fs	NM_033049.3	NP_149038.3	WXS	Illumina GAIIx	Phase_I	Q9H3R2	MUC13_HUMAN			2	299_300	-			88			Thr-rich.		Q6UWD9|Q9NXT5	Frame_Shift_Ins	INS	ENST00000311075.3	37	c.261_262insC																																																																																					0.441	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		7	1038						7	1038	---	---	---	---
TRH	7200	broad.mit.edu	37	3	129695642	129695643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:129695642_129695643insG	ENST00000302649.3	+	3	839_840	c.312_313insG	c.(313-315)gggfs	p.G105fs	TRH_ENST00000507066.1_Frame_Shift_Ins_p.G101fs	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	105					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						aagaggaagaagggggggCTGT	0.569																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(310-315)gaggggfs		thyrotropin-releasing hormone																																				SO:0001589	frameshift_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695642_129695643insG		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.319dupG	3.37:g.129695649_129695649dupG	ENSP00000303452:p.Gly105fs		Somatic				TRH_ENST00000507066.1_Frame_Shift_Ins_p.EG100fs	p.EG104fs	NM_007117.3	NP_009048.1	WXS	Illumina GAIIx	Phase_I	P20396	TRH_HUMAN			3	839_840	+			104					B2R8R1|Q2TB83	Frame_Shift_Ins	INS	ENST00000302649.3	37	c.312_313insG	CCDS3066.1																																																																																				0.569	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		16	196						16	196	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)cggfs	p.R493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.46																																						ENST00000264952.2																			1	Substitution - Missense(1)	p.R493L(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1477-1479)gggfs		G protein-coupled receptor kinase 7																																				SO:0001589	frameshift_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141535707_141535708insG		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1483dupG	3.37:g.141535713_141535713dupG	ENSP00000264952:p.Arg493fs		Somatic					p.G493fs	NM_139209.2	NP_631948.1	WXS	Illumina GAIIx	Phase_I	Q8WTQ7	GRK7_HUMAN			4	1614_1615	+			493			AGC-kinase C-terminal.			Frame_Shift_Ins	INS	ENST00000264952.2	37	c.1477_1478insG	CCDS3120.1																																																																																				0.460	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		14	805						14	805	---	---	---	---
CPHL1P	389160	broad.mit.edu	37	3	148999032	148999033	+	RNA	INS	-	-	GAA	rs397825074|rs368617671|rs10639126	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:148999032_148999033insGAA	ENST00000482639.2	-	0	195									ceruloplasmin and hephaestin-like 1 pseudogene																		GGGAAGACACTGAACAGtaaga	0.5														2398	0.478834	0.7988	0.549	5008	,	,		18763	0.37		0.339	False		,,,				2504	0.2526					ENST00000482639.2																			0																																																			389160							g.chr3:148999032_148999033insGAA			3q25.1	2010-10-13	2010-10-13	2010-10-13	ENSG00000240216	ENSG00000240216			31714	pseudogene	pseudogene			"""ceruloplasmin and hephaestin-like 1"""	CPHL1			Standard	NG_022938		Approved				OTTHUMG00000159584		3.37:g.148999033_148999035dupGAA			Somatic								WXS	Illumina GAIIx	Phase_I					0	195	-									RNA	INS	ENST00000482639.2	37																																																																																						0.500	CPHL1P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356325.2	NG_022938		3	3						3	3	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169890470	169890471	+	Frame_Shift_Ins	INS	-	-	G	rs199840381		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:169890470_169890471insG	ENST00000494943.1	-	3	242_243	c.174_175insC	c.(172-177)cccagcfs	p.S59fs	PHC3_ENST00000467570.1_Frame_Shift_Ins_p.S71fs|PHC3_ENST00000495893.2_Frame_Shift_Ins_p.S71fs|PHC3_ENST00000474275.1_Frame_Shift_Ins_p.S55fs|PHC3_ENST00000497658.1_Frame_Shift_Ins_p.S71fs|PHC3_ENST00000481639.1_Frame_Shift_Ins_p.S67fs			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	59					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCAGCTGAGCTGGGGGGCCGAT	0.441																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(172-177)ccgctcfs		polyhomeotic homolog 3 (Drosophila)																																				SO:0001589	frameshift_variant	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169890470_169890471insG		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.175dupC	3.37:g.169890476_169890476dupG	ENSP00000420271:p.Ser59fs		Somatic				PHC3_ENST00000481639.1_Frame_Shift_Ins_p.L67fs|PHC3_ENST00000474275.1_Frame_Shift_Ins_p.L55fs|PHC3_ENST00000467570.1_Frame_Shift_Ins_p.L71fs|PHC3_ENST00000495893.1_Frame_Shift_Ins_p.L71fs|PHC3_ENST00000497658.1_Frame_Shift_Ins_p.L71fs	p.L59fs			WXS	Illumina GAIIx	Phase_I	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		3	242_243	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		59					A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Frame_Shift_Ins	INS	ENST00000494943.1	37	c.174_175insC																																																																																					0.441	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		8	290						8	290	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:183700629_183700630insC	ENST00000334444.6	-	6	997_998	c.757_758insG	c.(757-759)gccfs	p.A253fs	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.A253fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	253	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GGTTAGGATGGCCCCCCGCAAG	0.515																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(757-759)catfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 5																																				SO:0001589	frameshift_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183700629_183700630insC	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.758dupG	3.37:g.183700635_183700635dupC	ENSP00000333926:p.Ala253fs		Somatic				ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs	p.H253fs	NM_005688.2	NP_005679.2	WXS	Illumina GAIIx	Phase_I	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		6	997_998	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		253			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Frame_Shift_Ins	INS	ENST00000334444.6	37	c.757_758insG	CCDS43176.1																																																																																				0.515	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		9	317						9	317	---	---	---	---
SLC51A	200931	broad.mit.edu	37	3	195955037	195955038	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:195955037_195955038insG	ENST00000296327.5	+	5	623_624	c.414_415insG	c.(415-417)gggfs	p.G139fs		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	139					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	TGGAAGGCTTTGGGGGGAAGGA	0.614																																						ENST00000296327.5																			0											c.(412-417)ttggggfs		solute carrier family 51, alpha subunit																																				SO:0001589	frameshift_variant	200931							g.chr3:195955037_195955038insG		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.420dupG	3.37:g.195955043_195955043dupG	ENSP00000296327:p.Gly139fs		Somatic					p.LG138fs	NM_152672.5	NP_689885.4	WXS	Illumina GAIIx	Phase_I					5	623_624	+								Q6ZMC7	Frame_Shift_Ins	INS	ENST00000296327.5	37	c.414_415insG	CCDS3314.1																																																																																				0.614	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		10	1014						10	1014	---	---	---	---
PIGZ	80235	broad.mit.edu	37	3	196674359	196674360	+	Frame_Shift_Ins	INS	-	-	G	rs147904272|rs200263090|rs373789971	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:196674359_196674360insG	ENST00000412723.1	-	3	1554_1555	c.1408_1409insC	c.(1408-1410)cggfs	p.R470fs		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	470					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TAGGAGGTGCCGGGGGGGCATG	0.644																																						ENST00000412723.1																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14						c.(1408-1410)gcafs		phosphatidylinositol glycan anchor biosynthesis, class Z				9,4257		0,9,2124						2.9	1.0			60	9,8245		0,9,4118	no	frameshift	PIGZ	NM_025163.2		0,18,6242	A1A1,A1R,RR		0.109,0.211,0.1438				18,12502				SO:0001589	frameshift_variant	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196674359_196674360insG	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.1409dupC	3.37:g.196674366_196674366dupG	ENSP00000413405:p.Arg470fs		Somatic					p.A470fs	NM_025163.2	NP_079439.2	WXS	Illumina GAIIx	Phase_I	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	3	1554_1555	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		470					Q9H9G6	Frame_Shift_Ins	INS	ENST00000412723.1	37	c.1408_1409insC	CCDS3324.1																																																																																				0.644	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		12	97						12	97	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1389330	1389331	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:1389330_1389331delCA	ENST00000324803.4	+	1	3991_3992	c.1031_1032delCA	c.(1030-1032)tcafs	p.S344fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	344					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.658																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1030-1032)tfs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389330_1389331delCA	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1031_1032delCA	4.37:g.1389332_1389333delCA	ENSP00000323978:p.Ser344fs		Somatic					p.S344fs	NM_175918.3	NP_787114.2	WXS	Illumina GAIIx	Phase_I	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3991_3992	+			344					Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	c.1031_1032delCA	CCDS3349.1																																																																																				0.658	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		9	171						9	171	---	---	---	---
IGFBP7	3490	broad.mit.edu	37	4	57907076	57907077	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:57907076_57907077insG	ENST00000295666.4	-	2	531_532	c.498_499insC	c.(496-501)cccaagfs	p.K167fs	IGFBP7_ENST00000537922.1_Frame_Shift_Ins_p.K167fs|IGFBP7_ENST00000512512.1_5'UTR	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	167	Ig-like C2-type.				cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAGATGTCCTTGGGGGGCGTCA	0.505																																						ENST00000295666.4																			0				central_nervous_system(1)|endometrium(1)|lung(3)	5						c.(496-501)ccaggafs		insulin-like growth factor binding protein 7	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	3490				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding	g.chr4:57907076_57907077insG	S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"""Immunoglobulin superfamily / I-set domain containing"""	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.499dupC	4.37:g.57907082_57907082dupG	ENSP00000295666:p.Lys167fs		Somatic				IGFBP7_ENST00000537922.1_Frame_Shift_Ins_p.G167fs|IGFBP7_ENST00000512512.1_5'UTR	p.G167fs	NM_001553.2	NP_001544.1	WXS	Illumina GAIIx	Phase_I	Q16270	IBP7_HUMAN			2	531_532	-	Glioma(25;0.08)|all_neural(26;0.181)		167			Ig-like C2-type.		B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	Frame_Shift_Ins	INS	ENST00000295666.4	37	c.498_499insC	CCDS3512.1																																																																																				0.505	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250693.1			7	245						7	245	---	---	---	---
PRR27	401137	broad.mit.edu	37	4	71024317	71024318	+	Frame_Shift_Ins	INS	-	-	T	rs148239542		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:71024317_71024318insT	ENST00000344526.5	+	3	537_538	c.348_349insT	c.(349-351)tttfs	p.F117fs	C4orf40_ENST00000502294.1_Frame_Shift_Ins_p.F117fs|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		117	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCCTTCAAGGTTTTTTTCAGC	0.55																																						ENST00000344526.5																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(346-351)agttttfs		chromosome 4 open reading frame 40																																				SO:0001589	frameshift_variant	401137					extracellular region		g.chr4:71024317_71024318insT																												ENST00000344526.5:c.355dupT	4.37:g.71024324_71024324dupT	ENSP00000343172:p.Phe117fs		Somatic				C4orf40_ENST00000502294.1_Frame_Shift_Ins_p.SF116fs|C4orf40_ENST00000502441.2_3'UTR	p.SF116fs	NM_214711.3	NP_999876.2	WXS	Illumina GAIIx	Phase_I	Q6MZM9	CD040_HUMAN			3	537_538	+			116					A8MXP0|Q6MZR6	Frame_Shift_Ins	INS	ENST00000344526.5	37	c.348_349insT	CCDS3535.1																																																																																				0.550	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			7	352						7	352	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:79238582_79238583insC	ENST00000325942.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1884)agccccfs	p.SP627fs	FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.SP627fs|FRAS1_ENST00000264895.6_Frame_Shift_Ins_p.SP627fs	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	627					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAGCCTGCAGCCCCCCCAAGG	0.574																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(1879-1881)accfs		Fraser syndrome 1																																				SO:0001589	frameshift_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79238582_79238583insC	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1887dupC	4.37:g.79238589_79238589dupC	ENSP00000326330:p.Ser627fs		Somatic				FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs	p.T627fs	NM_025074.6	NP_079350.5	WXS	Illumina GAIIx	Phase_I	Q86XX4	FRAS1_HUMAN			17	2320_2321	+			627					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Frame_Shift_Ins	INS	ENST00000325942.6	37	c.1880_1881insC	CCDS54772.1																																																																																				0.574	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			12	117						12	117	---	---	---	---
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs	HPGDS_ENST00000514774.1_5'Flank	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351																																					Colon(86;1802 1843 17863 46794)	ENST00000295256.5																			0				breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7						c.(409-414)gggagafs		hematopoietic prostaglandin D synthase	Glutathione(DB00143)																																			SO:0001589	frameshift_variant	27306				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity	g.chr4:95223320_95223321insC	D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.412dupG	4.37:g.95223326_95223326dupC	ENSP00000295256:p.Arg138fs		Somatic					p.R138fs	NM_014485.2	NP_055300.1	WXS	Illumina GAIIx	Phase_I	O60760	HPGDS_HUMAN			5	501_502	-			138			GST C-terminal.		Q6FHT9	Frame_Shift_Ins	INS	ENST00000295256.5	37	c.411_412insG	CCDS3640.1																																																																																				0.351	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253587.1	NM_014485		8	440						8	440	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153244155	153244156	+	Frame_Shift_Ins	INS	-	-	C	rs7679116		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:153244155_153244156insC	ENST00000281708.4	-	12	3230_3231	c.2001_2002insG	c.(1999-2004)gggagtfs	p.S668fs	FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.S668fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.S668fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.S550fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.S588fs|FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.S492fs|RP11-461L13.3_ENST00000603766.1_lincRNA	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	668			S -> G (in dbSNP:rs7679116).		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.S668fs*39(1)|p.S668fs*26(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTCCCCCACTCCCCCCACTCT	0.485			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		3	Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.S668fs*39(1)|p.S668fs*26(1)|p.?(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1999-2004)gggtggfs		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153244155_153244156insC	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.2002dupG	4.37:g.153244161_153244161dupC	ENSP00000281708:p.Ser668fs		Somatic				FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.W588fs|FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.W492fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.W550fs	p.W668fs	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			12	3230_3231	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	668		S -> G (in dbSNP:rs7679116).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Ins	INS	ENST00000281708.4	37	c.2001_2002insG	CCDS3777.1																																																																																				0.485	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			8	602						8	602	---	---	---	---
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:155526058_155526059insC	ENST00000336098.3	-	9	1327_1328	c.1289_1290insG	c.(1288-1290)ggafs	p.G430fs	FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000404648.3_Frame_Shift_Ins_p.G430fs	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.45																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1288-1290)ggcfs		fibrinogen gamma chain	Sucralfate(DB00364)																																			SO:0001589	frameshift_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155526058_155526059insC		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1290dupG	4.37:g.155526064_155526064dupC	ENSP00000336829:p.Gly430fs		Somatic				FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs	p.G430fs	NM_000509.4	NP_000500.2	WXS	Illumina GAIIx	Phase_I	P02679	FIBG_HUMAN			9	1528_1529	-	all_hematologic(180;0.215)	Renal(120;0.0458)	430			Platelet aggregation and Staphylococcus clumping.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Frame_Shift_Ins	INS	ENST00000336098.3	37	c.1289_1290insG	CCDS3788.1																																																																																				0.450	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		7	413						7	413	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)cccaaafs	p.K1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(3670-3675)ccaatcfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187558038_187558039insG	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3673dupC	4.37:g.187558044_187558044dupG	ENSP00000406229:p.Lys1225fs	HNSCC(5;0.00058)	Somatic					p.I1225fs	NM_005245.3	NP_005236.2	WXS	Illumina GAIIx	Phase_I	Q14517	FAT1_HUMAN			5	3881_3882	-			1225			Cadherin 10.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.3672_3673insC	CCDS47177.1																																																																																				0.361	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	561						7	561	---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:189012770_189012771insG	ENST00000512729.1	-	7	1294_1295	c.920_921insC	c.(919-921)cctfs	p.P307fs	TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	307	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCTTTTCAGAGGGGGGAAGAC	0.559																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(919-921)cctfs		tripartite motif family-like 2																																				SO:0001589	frameshift_variant	205860						ligase activity	g.chr4:189012770_189012771insG	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.921dupC	4.37:g.189012776_189012776dupG	ENSP00000422581:p.Pro307fs		Somatic				TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	p.P307fs	NM_173553.1	NP_775824.1	WXS	Illumina GAIIx	Phase_I	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	1294_1295	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	307			B30.2/SPRY.		B7Z6J6	Frame_Shift_Ins	INS	ENST00000512729.1	37	c.920_921insC	CCDS3850.1																																																																																				0.559	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		9	437						9	437	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(931-933)gggfs	p.G311fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.G311fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	311					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGTGTGATTGGGGGGCAGCT	0.52																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(928-933)atggggfs		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36679798_36679799insG		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.936dupG	5.37:g.36679804_36679804dupG	ENSP00000265113:p.Gly311fs		Somatic				CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	p.MG310fs	NM_004172.4	NP_004163.3	WXS	Illumina GAIIx	Phase_I	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1406_1407	+	all_lung(31;0.000245)		310					B2R5T3|Q4JCQ8	Frame_Shift_Ins	INS	ENST00000265113.4	37	c.930_931insG	CCDS3919.1																																																																																				0.520	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		14	1054						14	1054	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38407191	38407192	+	Frame_Shift_Ins	INS	-	-	G	rs540141603	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:38407191_38407192insG	ENST00000354891.3	+	8	1436_1437	c.1090_1091insG	c.(1090-1092)tggfs	p.W364fs	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.W130fs|EGFLAM_ENST00000322350.5_Frame_Shift_Ins_p.W364fs	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	364	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.S367fs*12(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGACTACACCTGGGGGGGCTCG	0.545																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			1	Insertion - Frameshift(1)	p.S367fs*12(1)	large_intestine(1)	NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(1090-1092)gggfs		EGF-like, fibronectin type III and laminin G domains																																				SO:0001589	frameshift_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38407191_38407192insG	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1097dupG	5.37:g.38407198_38407198dupG	ENSP00000346964:p.Trp364fs		Somatic				EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.G130fs|EGFLAM_ENST00000354891.3_Frame_Shift_Ins_p.G364fs|EGFLAM_ENST00000397202.2_Intron	p.G364fs	NM_152403.3	NP_689616.2	WXS	Illumina GAIIx	Phase_I	Q63HQ2	EGFLA_HUMAN			8	1436_1437	+	all_lung(31;0.000385)		364			EGF-like 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Frame_Shift_Ins	INS	ENST00000354891.3	37	c.1090_1091insG	CCDS56363.1																																																																																				0.545	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		11	217						11	217	---	---	---	---
ACTBL2	345651	broad.mit.edu	37	5	56778449	56778450	+	Frame_Shift_Ins	INS	-	-	G	rs575653475		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:56778449_56778450insG	ENST00000423391.1	-	1	186_187	c.85_86insC	c.(85-87)cggfs	p.R29fs	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	29						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GAACACAGCCCGGGGGGCATCG	0.584																																						ENST00000423391.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28						c.(85-87)ggcfs		actin, beta-like 2																																				SO:0001589	frameshift_variant	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56778449_56778450insG		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.86dupC	5.37:g.56778455_56778455dupG	ENSP00000416706:p.Arg29fs		Somatic				CTD-2023N9.1_ENST00000506106.1_RNA	p.G29fs	NM_001017992.3	NP_001017992.1	WXS	Illumina GAIIx	Phase_I	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	186_187	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	29					B2RPJ1|Q562R2|Q562S9|Q562X8	Frame_Shift_Ins	INS	ENST00000423391.1	37	c.85_86insC	CCDS34163.1																																																																																				0.584	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		8	188						8	188	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5898)agccccfs	p.SP1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5893-5895)accfs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495076_71495077insC	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5901dupC	5.37:g.71495083_71495083dupC	ENSP00000296755:p.Ser1965fs		Somatic					p.T1965fs	NM_005909.3	NP_005900.2	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6192_6193	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1965					A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.5894_5895insC	CCDS4012.1																																																																																				0.485	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		11	436						11	436	---	---	---	---
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)catfs	p.H294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366																																						ENST00000322348.4																			1	Insertion - Frameshift(1)	p.H294fs*2(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(880-882)taafs		glucosaminyl (N-acetyl) transferase 4, core 2																																				SO:0001589	frameshift_variant	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74324982_74324983insG	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.881dupC	5.37:g.74324989_74324989dupG	ENSP00000317027:p.His294fs		Somatic					p.*294fs	NM_016591.2	NP_057675.1	WXS	Illumina GAIIx	Phase_I	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1741_1742	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	294						Frame_Shift_Ins	INS	ENST00000322348.4	37	c.880_881insC	CCDS4026.1																																																																																				0.366	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		8	167						8	167	---	---	---	---
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G	rs569568718	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)cccaaafs	p.K880fs	SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.K357fs|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.K259fs|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.K307fs|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.K897fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.K880fs	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2635-2640)ccaagtfs		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A																																				SO:0001589	frameshift_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115782764_115782765insG	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2638dupC	5.37:g.115782770_115782770dupG	ENSP00000345512:p.Lys880fs		Somatic				SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs	p.S880fs	NM_020796.3	NP_065847.1	WXS	Illumina GAIIx	Phase_I	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3424_3425	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	880					Q9P2H9	Frame_Shift_Ins	INS	ENST00000343348.6	37	c.2637_2638insC	CCDS47256.1																																																																																				0.604	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		8	473						8	473	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123984683	123984684	+	Frame_Shift_Ins	INS	-	-	C	rs565938874		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:123984683_123984684insC	ENST00000306315.5	-	4	1828_1829	c.1393_1394insG	c.(1393-1395)gccfs	p.A465fs	ZNF608_ENST00000504926.1_Frame_Shift_Ins_p.A38fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	465							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTCCCATTGGCCCCCCCTCTG	0.629																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1393-1395)caafs		zinc finger protein 608																																				SO:0001589	frameshift_variant	57507					intracellular	zinc ion binding	g.chr5:123984683_123984684insC	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1394dupG	5.37:g.123984690_123984690dupC	ENSP00000307746:p.Ala465fs		Somatic				ZNF608_ENST00000504926.1_Frame_Shift_Ins_p.Q38fs	p.Q465fs	NM_020747.2	NP_065798.2	WXS	Illumina GAIIx	Phase_I	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	1828_1829	-		all_cancers(142;0.186)|Prostate(80;0.081)	465					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Frame_Shift_Ins	INS	ENST00000306315.5	37	c.1393_1394insG	CCDS34219.1																																																																																				0.629	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		11	229						11	229	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)gggtttfs	p.F2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.F2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(7657-7662)ggttacfs		fibrillin 2																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127610310_127610311insC	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7660dupG	5.37:g.127610317_127610317dupC	ENSP00000424571:p.Phe2554fs		Somatic				FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs	p.Y2554fs			WXS	Illumina GAIIx	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	66	8633_8634	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2554			EGF-like 43; calcium-binding.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.7659_7660insG	CCDS34222.1																																																																																				0.421	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		9	289						9	289	---	---	---	---
EGR1	1958	broad.mit.edu	37	5	137803131	137803132	+	Frame_Shift_Ins	INS	-	-	C	rs148475837		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:137803131_137803132insC	ENST00000239938.4	+	2	1265_1266	c.993_994insC	c.(994-996)cccfs	p.P332fs		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	332					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGCAAGACGCCCCCCCACGA	0.649																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(991-996)acccccfs		early growth response 1																																				SO:0001589	frameshift_variant	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803131_137803132insC	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1000dupC	5.37:g.137803138_137803138dupC	ENSP00000239938:p.Pro332fs		Somatic					p.TP331fs	NM_001964.2	NP_001955.1	WXS	Illumina GAIIx	Phase_I	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1265_1266	+			331						Frame_Shift_Ins	INS	ENST00000239938.4	37	c.993_994insC	CCDS4206.1																																																																																				0.649	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		14	134						14	134	---	---	---	---
PCDHGC5	56097	broad.mit.edu	37	5	140870530	140870531	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:140870530_140870531insC	ENST00000252087.1	+	1	1723_1724	c.1723_1724insC	c.(1723-1725)gccfs	p.A575fs	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	575	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACACTCAGCCCCCCAGCGT	0.589																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1723-1725)cccfs																																						SO:0001589	frameshift_variant	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140870530_140870531insC	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1729dupC	5.37:g.140870536_140870536dupC	ENSP00000252087:p.Ala575fs		Somatic				PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	p.P575fs	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	WXS	Illumina GAIIx	Phase_I	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1723_1724	+			575			Cadherin 6.		Q9Y5C2	Frame_Shift_Ins	INS	ENST00000252087.1	37	c.1723_1724insC	CCDS4263.1																																																																																				0.589	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		11	557						11	557	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)gggaggfs	p.R763fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.R425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.R665fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2284-2289)ggggatfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049341_141049342insC	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2287dupG	5.37:g.141049347_141049347dupC	ENSP00000239440:p.Arg763fs		Somatic				ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	p.D763fs	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			16	2351_2352	-			763					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2286_2287insG	CCDS4266.1																																																																																				0.579	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		11	831						11	831	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)ccafs	p.P743fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	743					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGTCAGTGGGTGGGGGGCTCAC	0.564																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2227-2229)cccfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049509_141049510insG	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2229dupC	5.37:g.141049515_141049515dupG	ENSP00000239440:p.Pro743fs		Somatic				ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs	p.P743fs	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			15	2293_2294	-			743					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2228_2229insC	CCDS4266.1																																																																																				0.564	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		9	903						9	903	---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141242814	141242815	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:141242814_141242815insG	ENST00000394536.3	-	3	3220_3221	c.3081_3082insC	c.(3079-3084)cccaaafs	p.K1028fs	PCDH1_ENST00000287008.3_Frame_Shift_Ins_p.K1028fs|PCDH1_ENST00000456271.1_Frame_Shift_Ins_p.K1016fs|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Frame_Shift_Ins_p.K1006fs	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	1028					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGGGGTATTTGGGGGGGTTGG	0.634																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(3079-3084)ccaatafs		protocadherin 1																																				SO:0001589	frameshift_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141242814_141242815insG	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.3082dupC	5.37:g.141242821_141242821dupG	ENSP00000378043:p.Lys1028fs		Somatic				PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Frame_Shift_Ins_p.I1006fs|PCDH1_ENST00000394536.3_Frame_Shift_Ins_p.I1028fs|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Frame_Shift_Ins_p.I1016fs	p.I1028fs	NM_032420.2	NP_115796.2	WXS	Illumina GAIIx	Phase_I	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	3228_3229	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	1028					Q8IUP2	Frame_Shift_Ins	INS	ENST00000394536.3	37	c.3081_3082insC	CCDS43375.1																																																																																				0.634	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		14	275						14	275	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G	rs199646351		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)cccaagfs	p.K224fs	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.48																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(667-672)ccagtcfs		protocadherin 12				5,4259		0,5,2127						5.1	1.0			79	6,8238		0,6,4116	no	frameshift	PCDH12	NM_016580.2		0,11,6243	A1A1,A1R,RR		0.0728,0.1173,0.0879				11,12497				SO:0001589	frameshift_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336747_141336748insG	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.670dupC	5.37:g.141336754_141336754dupG	ENSP00000231484:p.Lys224fs		Somatic					p.V224fs	NM_016580.2	NP_057664.1	WXS	Illumina GAIIx	Phase_I	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1879_1880	-		all_hematologic(541;0.0999)	224			Cadherin 2.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Frame_Shift_Ins	INS	ENST00000231484.3	37	c.669_670insC	CCDS4269.1																																																																																				0.480	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		19	489						19	489	---	---	---	---
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)ggcfs	p.G397fs	PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.G403fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.G386fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.G400fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.G386fs|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.G455fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.G463fs			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	397					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACACA	0.5																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(1189-1191)gaafs		protein phosphatase 2, regulatory subunit B, beta																																				SO:0001589	frameshift_variant	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:145969651_145969652insC	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1191dupG	5.37:g.145969657_145969657dupC	ENSP00000377935:p.Gly397fs		Somatic				PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs	p.E397fs			WXS	Illumina GAIIx	Phase_I	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1760_1761	-			397					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Frame_Shift_Ins	INS	ENST00000394413.3	37	c.1190_1191insG	CCDS4284.1																																																																																				0.500	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		8	777						8	777	---	---	---	---
TCOF1	6949	broad.mit.edu	37	5	149755744	149755745	+	Frame_Shift_Ins	INS	-	-	C	rs2071240	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:149755744_149755745insC	ENST00000504761.2	+	13	1993_1994	c.1993_1994insC	c.(1993-1995)gccfs	p.A665fs	TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.A588fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.A588fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000451292.1_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.A665fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	665			A -> P (in dbSNP:rs2071240). {ECO:0000269|PubMed:15019983, ECO:0000269|PubMed:8563749, ECO:0000269|PubMed:9074926, ECO:0000269|PubMed:9096354}.		skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCACCCAAGCCCCCCGGAAA	0.584																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1993-1995)cccfs		Treacher Collins-Franceschetti syndrome 1																																				SO:0001589	frameshift_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755744_149755745insC		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1999dupC	5.37:g.149755750_149755750dupC	ENSP00000421655:p.Ala665fs		Somatic				TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.P588fs	p.P665fs			WXS	Illumina GAIIx	Phase_I	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2101_2102	+		all_hematologic(541;0.224)	665		A -> P (in dbSNP:rs2071240).			A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Frame_Shift_Ins	INS	ENST00000504761.2	37	c.1993_1994insC	CCDS54936.1																																																																																				0.584	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		12	539						12	539	---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156915296	156915297	+	Frame_Shift_Ins	INS	-	-	G	rs11466804|rs199716249	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:156915296_156915297insG	ENST00000517905.1	-	21	2570_2571	c.2526_2527insC	c.(2524-2529)cccgcafs	p.A843fs	ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.A576fs|ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.A845fs|ADAM19_ENST00000257527.4_Frame_Shift_Ins_p.A843fs			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	843					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATTTGGTGCGGGGGGAATTG	0.564																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2524-2529)cccaccfs		ADAM metallopeptidase domain 19																																				SO:0001589	frameshift_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156915296_156915297insG	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2527dupC	5.37:g.156915302_156915302dupG	ENSP00000428654:p.Ala843fs		Somatic				ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.T576fs|ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.T845fs|ADAM19_ENST00000517905.1_Frame_Shift_Ins_p.T843fs	p.T843fs	NM_033274.3	NP_150377.1	WXS	Illumina GAIIx	Phase_I	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2604_2605	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	843					Q9BZL5|Q9UHP2	Frame_Shift_Ins	INS	ENST00000517905.1	37	c.2526_2527insC																																																																																					0.564	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		8	408						8	408	---	---	---	---
GABRA6	2559	broad.mit.edu	37	5	161116011	161116012	+	Frame_Shift_Ins	INS	-	-	G	rs143274925		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:161116011_161116012insG	ENST00000274545.5	+	4	715_716	c.282_283insG	c.(283-285)gggfs	p.G95fs	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Frame_Shift_Ins_p.G85fs			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	95					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GGTTGAAGTTTGGGGGGCCAAC	0.406										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(250-255)ttggggfs		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)																																			SO:0001589	frameshift_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161116011_161116012insG		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.288dupG	5.37:g.161116017_161116017dupG	ENSP00000274545:p.Gly95fs	TCGA Ovarian(5;0.080)	Somatic				RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000274545.5_Frame_Shift_Ins_p.LG94fs	p.LG84fs	NM_000811.2	NP_000802.2	WXS	Illumina GAIIx	Phase_I	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	494_495	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	94					A8K096|Q4VAV2	Frame_Shift_Ins	INS	ENST00000274545.5	37	c.252_253insG	CCDS4356.1																																																																																				0.406	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			10	288						10	288	---	---	---	---
RARS	5917	broad.mit.edu	37	5	167946165	167946166	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:167946165_167946166delCC	ENST00000231572.3	+	15	2007_2008	c.1953_1954delCC	c.(1951-1956)atcctgfs	p.L652fs	RARS_ENST00000538719.1_Frame_Shift_Del_p.L446fs	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	652					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GGTTTGATATCCTGGGAATAAA	0.396																																						ENST00000231572.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22						c.(1951-1956)attgfs		arginyl-tRNA synthetase																																				SO:0001589	frameshift_variant	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167946165_167946166delCC	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1953_1954delCC	5.37:g.167946165_167946166delCC	ENSP00000231572:p.Leu652fs		Somatic				RARS_ENST00000538719.1_Frame_Shift_Del_p.IL445fs	p.IL651fs	NM_002887.3	NP_002878.2	WXS	Illumina GAIIx	Phase_I	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	15	2007_2008	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	651	I -> T (in Ref. 1; AAB35627).				B2RBS9|Q53GY4|Q9BWA1	Frame_Shift_Del	DEL	ENST00000231572.3	37	c.1953_1954delCC	CCDS4367.1																																																																																				0.396	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		7	156						7	156	---	---	---	---
STK10	6793	broad.mit.edu	37	5	171517344	171517345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:171517344_171517345insT	ENST00000176763.5	-	10	1919_1920	c.1576_1577insA	c.(1576-1578)accfs	p.T526fs	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	526					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGCTTGAGGGTTTTTTTGTAC	0.515																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1576-1578)cctfs		serine/threonine kinase 10				2,4262		0,2,2130						4.6	1.0		dbSNP_131	210	0,8254		0,0,4127	no	frameshift	STK10	NM_005990.3		0,2,6257	A1A1,A1R,RR		0.0,0.0469,0.016				2,12516				SO:0001589	frameshift_variant	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171517344_171517345insT	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1577dupA	5.37:g.171517351_171517351dupT	ENSP00000176763:p.Thr526fs		Somatic					p.P526fs	NM_005990.3	NP_005981.3	WXS	Illumina GAIIx	Phase_I	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1919_1920	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	526					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Frame_Shift_Ins	INS	ENST00000176763.5	37	c.1576_1577insA	CCDS34290.1																																																																																				0.515	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		9	1229						9	1229	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Intron	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:10557409_10557410insC	ENST00000379597.3	+	1	1481				GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Frame_Shift_Ins_p.P252fs|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(751-756)ccccccfs		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)																																				SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10557409_10557410insC	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27340->C	6.37:g.10557416_10557416dupC			Somatic				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron	p.PP251fs	NM_001491.2	NP_001482.1	WXS	Illumina GAIIx	Phase_I	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	1170_1171	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	253						Frame_Shift_Ins	INS	ENST00000379597.3	37	c.753_754insC	CCDS34338.1																																																																																				0.485	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		23	348						23	348	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13185110	13185111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:13185110_13185111insC	ENST00000379345.2	+	5	550_551	c.309_310insC	c.(310-312)cccfs	p.P104fs	PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000457702.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	43					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCTGCTACTGCCCCCCAAAAA	0.584																																						ENST00000379345.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(307-312)ctccccfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13185110_13185111insC	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379345.2:c.315dupC	6.37:g.13185116_13185116dupC	ENSP00000368650:p.Pro104fs		Somatic				PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron	p.LP103fs			WXS	Illumina GAIIx	Phase_I	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		5	550_551	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	237					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379345.2	37	c.309_310insC																																																																																					0.584	PHACTR1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166420		8	162						8	162	---	---	---	---
NRSN1	140767	broad.mit.edu	37	6	24145844	24145845	+	Frame_Shift_Ins	INS	-	-	C	rs577436927		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:24145844_24145845insC	ENST00000378491.4	+	4	559_560	c.258_259insC	c.(259-261)cccfs	p.P87fs		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GCTTTCTTGTGCCCCCCAAAAT	0.485																																						ENST00000378491.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						c.(256-261)gtccccfs		neurensin 1																																				SO:0001589	frameshift_variant	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24145844_24145845insC	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.264dupC	6.37:g.24145850_24145850dupC	ENSP00000367752:p.Pro87fs		Somatic					p.VP86fs	NM_080723.4	NP_542454.3	WXS	Illumina GAIIx	Phase_I	Q8IZ57	NRSN1_HUMAN			4	559_560	+			86						Frame_Shift_Ins	INS	ENST00000378491.4	37	c.258_259insC	CCDS4549.1																																																																																				0.485	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		8	210						8	210	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)gcafs	p.A324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.A77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(970-972)agcfs		doublecortin domain containing 2			,	0,4262		0,0,2131					,	6.1	1.0			246	1,8253		0,1,4126	no	frameshift,frameshift	DCDC2	NM_016356.3,NM_001195610.1	,	0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12515				SO:0001589	frameshift_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205282_24205283insC	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.971dupG	6.37:g.24205288_24205288dupC	ENSP00000367715:p.Ala324fs		Somatic				DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	p.S324fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	WXS	Illumina GAIIx	Phase_I	Q9UHG0	DCDC2_HUMAN			8	1271_1272	-		Ovarian(999;0.101)	324					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Frame_Shift_Ins	INS	ENST00000378454.3	37	c.970_971insG	CCDS4550.1																																																																																				0.411	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		18	968						18	968	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:29627216_29627217insC	ENST00000376917.3	+	2	438_439	c.209_210insC	c.(208-213)cgccccfs	p.RP70fs	MOG_ENST00000396704.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376898.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376894.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000396701.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.RP70fs	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569																																						ENST00000376894.4																			1	Deletion - Frameshift(1)	p.F73fs*29(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(208-210)cccfs		myelin oligodendrocyte glycoprotein																																				SO:0001589	frameshift_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627216_29627217insC		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.216dupC	6.37:g.29627223_29627223dupC	ENSP00000366115:p.Arg70fs		Somatic				MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs	p.P70fs			WXS	Illumina GAIIx	Phase_I	Q16653	MOG_HUMAN			2	327_328	+			70			Ig-like V-type.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Frame_Shift_Ins	INS	ENST00000376917.3	37	c.209_210insC	CCDS34370.1																																																																																				0.569	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		9	237						9	237	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31608570	31608571	+	Splice_Site	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:31608570_31608571insG	ENST00000375964.6	-	20	3155_3156	c.2842_2843insC	c.(2842-2844)cag>cCag	p.Q948fs	BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000404765.2_Splice_Site_p.Q978fs|BAG6_ENST00000211379.5_Splice_Site_p.Q942fs|BAG6_ENST00000362049.6_Splice_Site_p.Q942fs|BAG6_ENST00000439687.2_Splice_Site_p.Q816fs|BAG6_ENST00000375976.4_Splice_Site_p.Q942fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	948					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTCCCTTACCTGGGGGGGATCA	0.535																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.e21+1		BCL2-associated athanogene 6																																				SO:0001630	splice_region_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31608570_31608571insG	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2844+1->C	6.37:g.31608577_31608577dupG			Somatic				BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_splice|BAG6_ENST00000211379.5_Splice_Site_p.A942_splice|BAG6_ENST00000362049.6_Splice_Site_p.A942_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice	p.A978_splice			WXS	Illumina GAIIx	Phase_I	P46379	BAG6_HUMAN			21	3221_3222	-			948					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Splice_Site	INS	ENST00000375964.6	37	c.2934_splice	CCDS47403.1																																																																																				0.535	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703	Frame_Shift_Ins	8	207						8	207	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31692528	31692529	+	5'Flank	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:31692528_31692529insC	ENST00000375819.2	-	0	0				DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.P153fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000375809.3_Frame_Shift_Ins_p.S183fs	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TTCAGCTCTGTCCCCCCCACAT	0.579																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(547-549)cccfs		chromosome 6 open reading frame 25			,,,,,	3,4261		0,3,2129					,,,,,	1.1	1.0			67	4,8248		0,4,4122	no	frameshift,intron,frameshift,frameshift,intron,frameshift	C6orf25	NM_138277.2,NM_138275.2,NM_138274.2,NM_138273.2,NM_138272.2,NM_025260.3	,,,,,	0,7,6251	A1A1,A1R,RR		0.0485,0.0704,0.0559	,,,,,	,,,,,		7,12509				SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692528_31692529insC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692535_31692535dupC	Exception_encountered		Somatic				C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron	p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	WXS	Illumina GAIIx	Phase_I	O95866	G6B_HUMAN			5	558_559	+			0					Q5SRS8|Q8IY94	Frame_Shift_Ins	INS	ENST00000375819.2	37	c.547_548insC	CCDS4714.1																																																																																				0.579	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			14	367						14	367	---	---	---	---
HLA-DOA	3111	broad.mit.edu	37	6	32975278	32975279	+	Frame_Shift_Ins	INS	-	-	G	rs115076830		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:32975278_32975279insG	ENST00000229829.5	-	3	497_498	c.422_423insC	c.(421-423)cctfs	p.P141fs	HLA-DOA_ENST00000450833.2_Frame_Shift_Ins_p.P111fs|HLA-DOA_ENST00000495532.1_5'UTR	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	141	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						TATTGATCACAGGGGGGAAGAT	0.584																																						ENST00000229829.5																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(421-423)cgtfs		major histocompatibility complex, class II, DO alpha																																				SO:0001589	frameshift_variant	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32975278_32975279insG	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.423dupC	6.37:g.32975284_32975284dupG	ENSP00000229829:p.Pro141fs		Somatic				HLA-DOA_ENST00000450833.2_Frame_Shift_Ins_p.R111fs|HLA-DOA_ENST00000495532.1_5'UTR	p.R141fs	NM_002119.3	NP_002110.1	WXS	Illumina GAIIx	Phase_I	P06340	DOA_HUMAN			3	497_498	-			141			Alpha-2.|Ig-like C1-type.		Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Frame_Shift_Ins	INS	ENST00000229829.5	37	c.422_423insC	CCDS4763.1																																																																																				0.584	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		8	257						8	257	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(295-297)cccfs	p.P99fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.P99fs|Y_RNA_ENST00000383990.1_RNA	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	99							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(292-297)cgccccfs		UHRF1 binding protein 1																																				SO:0001589	frameshift_variant	54887							g.chr6:34791081_34791082insC	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.300dupC	6.37:g.34791087_34791087dupC	ENSP00000192788:p.Pro99fs		Somatic				UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	p.RP98fs	NM_017754.3	NP_060224.3	WXS	Illumina GAIIx	Phase_I	Q6BDS2	URFB1_HUMAN			4	465_466	+			98					Q9NXE0	Frame_Shift_Ins	INS	ENST00000192788.5	37	c.294_295insC	CCDS43455.1																																																																																				0.446	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		7	717						7	717	---	---	---	---
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C	rs587778337		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)gccfs	p.A308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.54			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000229769.2			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"""N, F, S"""	"""Fanconi anemia, complementation group E"""			L		"""AML, leukemia"""			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						c.(922-924)cccfs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group E				16,4248		0,16,2116						-5.8	0.0		dbSNP_130	75	14,8240		0,14,4113	no	frameshift	FANCE	NM_021922.2		0,30,6229	A1A1,A1R,RR		0.1696,0.3752,0.2397				30,12488				SO:0001589	frameshift_variant	2178	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35425714_35425715insC	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.929dupC	6.37:g.35425721_35425721dupC	ENSP00000229769:p.Ala308fs		Somatic					p.P308fs	NM_021922.2	NP_068741.1	WXS	Illumina GAIIx	Phase_I	Q9HB96	FANCE_HUMAN			4	1107_1108	+			308			Interaction with FANCC.		A8K907|Q4ZGH2	Frame_Shift_Ins	INS	ENST00000229769.2	37	c.922_923insC	CCDS4805.1																																																																																				0.540	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			10	153						10	153	---	---	---	---
C6orf222	389384	broad.mit.edu	37	6	36298220	36298221	+	Frame_Shift_Ins	INS	-	-	TCGGC			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:36298220_36298221insTCGGC	ENST00000437635.2	-	2	424_425	c.247_248insGCCGA	c.(247-249)gatfs	p.D83fs		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	83										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGGGAGAAAATCTCCGGTCTCC	0.614																																						ENST00000437635.2																			0				breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						c.(247-249)tttfs		chromosome 6 open reading frame 222																																				SO:0001589	frameshift_variant	389384							g.chr6:36298220_36298221insTCGGC		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.247_248insGCCGA	6.37:g.36298220_36298221insTCGGC	ENSP00000418983:p.Asp83fs		Somatic					p.F83fs	NM_001010903.4	NP_001010903.3	WXS	Illumina GAIIx	Phase_I	P0C671	CF222_HUMAN			2	424_425	-			83					B2RTY8	Frame_Shift_Ins	INS	ENST00000437635.2	37	c.247_248insGCCGA	CCDS34439.1																																																																																				0.614	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		8	240						8	240	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38875864	38875865	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:38875864_38875865insTG	ENST00000359357.3	+	62	9084_9085	c.8830_8831insTG	c.(8830-8832)aagfs	p.K2944fs	DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.K3161fs|DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.K2908fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2944	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGATCAAGGAAGAACTTACAT	0.356																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(8830-8832)gaafs		dynein, axonemal, heavy chain 8																																				SO:0001589	frameshift_variant	1769							g.chr6:38875864_38875865insTG	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	Exception_encountered	6.37:g.38875864_38875865insTG	ENSP00000352312:p.Lys2944fs		Somatic				DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.E3161fs|DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.E2908fs	p.E2944fs			WXS	Illumina GAIIx	Phase_I					62	9084_9085	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Ins	INS	ENST00000359357.3	37	c.8830_8831insTG																																																																																					0.356	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		11	63						11	63	---	---	---	---
PTCRA	171558	broad.mit.edu	37	6	42893181	42893181	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:42893181delG	ENST00000304672.1	+	4	688	c.607delG	c.(607-609)gggfs	p.G204fs	PTCRA_ENST00000446507.1_Frame_Shift_Del_p.G97fs|PTCRA_ENST00000441198.1_Frame_Shift_Del_p.G179fs	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	204					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CACGGAGACTGGGGGACGAGA	0.746																																						ENST00000304672.1																			0				large_intestine(2)|lung(4)|ovary(2)	8						c.(607-609)ggfs		pre T-cell antigen receptor alpha							9.0	9.0	9.0					6																	42893181		2119	4112	6231	SO:0001589	frameshift_variant	171558					integral to membrane	receptor activity	g.chr6:42893181delG	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.607delG	6.37:g.42893181delG	ENSP00000304447:p.Gly204fs		Somatic				PTCRA_ENST00000446507.1_Frame_Shift_Del_p.G97fs|PTCRA_ENST00000441198.1_Frame_Shift_Del_p.G179fs	p.G204fs	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	WXS	Illumina GAIIx	Phase_I	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		4	688	+	Colorectal(47;0.196)		204					Q5TFZ7	Frame_Shift_Del	DEL	ENST00000304672.1	37	c.607delG	CCDS4874.1																																																																																				0.746	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		2	4						2	4	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)tccfs	p.S9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564																																						ENST00000370862.3																			1	Deletion - Frameshift(1)	p.P11fs*11(1)	upper_aerodigestive_tract(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(25-27)cccfs		hypocretin (orexin) receptor 2																																				SO:0001589	frameshift_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039410_55039411insC	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.32dupC	6.37:g.55039417_55039417dupC	ENSP00000359899:p.Ser9fs		Somatic					p.P9fs	NM_001526.3	NP_001517.2	WXS	Illumina GAIIx	Phase_I	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	361_362	+	Lung NSC(77;0.107)|Renal(3;0.122)		9					Q5VTM0	Frame_Shift_Ins	INS	ENST00000370862.3	37	c.25_26insC	CCDS4956.1																																																																																				0.564	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			7	209						7	209	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:87725846_87725847insC	ENST00000305344.5	+	2	1497_1498	c.794_795insC	c.(793-798)atccccfs	p.IP265fs		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCCATCAGGATCCCCCCCTTCG	0.51																																						ENST00000305344.4																			1	Insertion - Frameshift(1)	p.F268fs*4(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(793-795)accfs		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)																																			SO:0001589	frameshift_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725846_87725847insC		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.801dupC	6.37:g.87725853_87725853dupC	ENSP00000307766:p.Ile265fs		Somatic				HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	p.T265fs	NM_000865.2	NP_000856.1	WXS	Illumina GAIIx	Phase_I	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1497_1498	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	265					E1P503|Q9P1Y1	Frame_Shift_Ins	INS	ENST00000305344.5	37	c.794_795insC	CCDS5006.1																																																																																				0.510	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		13	609						13	609	---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128319970	128319971	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:128319970_128319971insG	ENST00000368215.3	-	16	2569_2570	c.2570_2571insC	c.(2569-2571)cctfs	p.P857fs	PTPRK_ENST00000368226.4_Frame_Shift_Ins_p.P858fs|PTPRK_ENST00000368213.5_Frame_Shift_Ins_p.P858fs|PTPRK_ENST00000368210.3_Frame_Shift_Ins_p.P870fs|PTPRK_ENST00000368227.3_Frame_Shift_Ins_p.P870fs|PTPRK_ENST00000524481.1_5'Flank|PTPRK_ENST00000532331.1_Frame_Shift_Ins_p.P874fs|PTPRK_ENST00000368207.3_Frame_Shift_Ins_p.P884fs			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	857					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTGTCTGGTAAGGGGATTCCGT	0.49																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2608-2610)ctafs		protein tyrosine phosphatase, receptor type, K																																				SO:0001589	frameshift_variant	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128319970_128319971insG	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2571dupC	6.37:g.128319974_128319974dupG	ENSP00000357198:p.Pro857fs		Somatic				PTPRK_ENST00000368207.3_Frame_Shift_Ins_p.L884fs|PTPRK_ENST00000368215.3_Frame_Shift_Ins_p.L857fs|PTPRK_ENST00000368213.5_Frame_Shift_Ins_p.L858fs|PTPRK_ENST00000368226.4_Frame_Shift_Ins_p.L858fs|PTPRK_ENST00000532331.1_Frame_Shift_Ins_p.L874fs|PTPRK_ENST00000368210.3_Frame_Shift_Ins_p.L870fs	p.L870fs			WXS	Illumina GAIIx	Phase_I	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	17	2975_2976	-			857					B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Frame_Shift_Ins	INS	ENST00000368215.3	37	c.2609_2610insC																																																																																					0.490	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			7	121						7	121	---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158900956	158900957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:158900956_158900957insC	ENST00000367097.3	+	7	2557_2558	c.1200_1201insC	c.(1201-1203)cccfs	p.P401fs	TULP4_ENST00000367094.2_Frame_Shift_Ins_p.P401fs	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	401	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R403fs*91(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGCTGACTCTGCCCCCCCGCCT	0.644																																						ENST00000367097.3																			1	Insertion - Frameshift(1)	p.R403fs*91(1)	large_intestine(1)	endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1198-1203)ctccccfs		tubby like protein 4																																				SO:0001589	frameshift_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158900956_158900957insC		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1207dupC	6.37:g.158900963_158900963dupC	ENSP00000356064:p.Pro401fs		Somatic				TULP4_ENST00000367094.2_Frame_Shift_Ins_p.LP400fs	p.LP400fs	NM_020245.4	NP_064630.2	WXS	Illumina GAIIx	Phase_I	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	7	2557_2558	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	400			SOCS box.		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Frame_Shift_Ins	INS	ENST00000367097.3	37	c.1200_1201insC	CCDS34561.1																																																																																				0.644	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		8	134						8	134	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)tggfs	p.W360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.W360fs	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1078-1080)gggfs		eukaryotic translation initiation factor 3, subunit B																																				SO:0001589	frameshift_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2404085_2404086insG	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1085dupG	7.37:g.2404092_2404092dupG	ENSP00000354125:p.Trp360fs		Somatic				EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	p.G360fs	NM_001037283.1	NP_001032360.1	WXS	Illumina GAIIx	Phase_I	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	6	1134_1135	+		Ovarian(82;0.0253)	360			Sufficient for interaction with EIF3E.			Frame_Shift_Ins	INS	ENST00000360876.4	37	c.1078_1079insG	CCDS5332.1																																																																																				0.475	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			19	203						19	203	---	---	---	---
DFNA5	1687	broad.mit.edu	37	7	24784270	24784271	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:24784270_24784271insC	ENST00000342947.3	-	3	739_740	c.314_315insG	c.(313-315)ggcfs	p.G105fs	DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409775.3_Frame_Shift_Ins_p.G105fs|DFNA5_ENST00000409970.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	105					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CGCGGCTGCTGCCCCCCAGGTT	0.559																																					GBM(78;184 1250 20134 20900 23600)	ENST00000342947.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(313-315)gagfs		deafness, autosomal dominant 5																																				SO:0001589	frameshift_variant	1687				sensory perception of sound			g.chr7:24784270_24784271insC	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.315dupG	7.37:g.24784276_24784276dupC	ENSP00000339587:p.Gly105fs		Somatic				DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000409775.3_Frame_Shift_Ins_p.E105fs|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000545231.1_5'UTR	p.E105fs	NM_004403.2	NP_004394.1	WXS	Illumina GAIIx	Phase_I	O60443	DFNA5_HUMAN			3	739_740	-			105					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Frame_Shift_Ins	INS	ENST00000342947.3	37	c.314_315insG	CCDS5389.1																																																																																				0.559	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		9	319						9	319	---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-381)atccccfs	p.IP126fs	FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.IP179fs	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(376-378)accfs		FK506 binding protein 9, 63 kDa																																				SO:0001589	frameshift_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33014803_33014804insC	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.384dupC	7.37:g.33014810_33014810dupC	ENSP00000242209:p.Ile126fs		Somatic				FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR	p.T126fs	NM_007270.3	NP_009201.2	WXS	Illumina GAIIx	Phase_I	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		3	546_547	+			126			PPIase FKBP-type 1.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Frame_Shift_Ins	INS	ENST00000242209.4	37	c.377_378insC	CCDS5439.1																																																																																				0.446	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		16	268						16	268	---	---	---	---
EPDR1	54749	broad.mit.edu	37	7	37988587	37988588	+	Frame_Shift_Ins	INS	-	-	T	rs145911941		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:37988587_37988588insT	ENST00000199448.4	+	2	794_795	c.415_416insT	c.(415-417)atcfs	p.I139fs	EPDR1_ENST00000559325.1_Frame_Shift_Ins_p.I259fs|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000425345.1_Frame_Shift_Ins_p.I78fs|EPDR1_ENST00000476620.1_Frame_Shift_Ins_p.I37fs	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	139					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCAGTACTCCATCGGGGGGCCT	0.51																																						ENST00000199448.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(415-417)cggfs		ependymin related 1																																				SO:0001589	frameshift_variant	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37988587_37988588insT	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.416dupT	7.37:g.37988588_37988588dupT	ENSP00000199448:p.Ile139fs		Somatic				EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000476620.1_Frame_Shift_Ins_p.R37fs|EPDR1_ENST00000559325.1_Frame_Shift_Ins_p.R259fs|EPDR1_ENST00000425345.1_Frame_Shift_Ins_p.R78fs	p.R139fs	NM_017549.4	NP_060019.2	WXS	Illumina GAIIx	Phase_I	Q9UM22	EPDR1_HUMAN			2	794_795	+			139					A8K4C0|C9JYS3|Q06BL0|Q99M77	Frame_Shift_Ins	INS	ENST00000199448.4	37	c.415_416insT	CCDS5454.2																																																																																				0.510	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		8	537						8	537	---	---	---	---
SUGCT	79783	broad.mit.edu	37	7	40899961	40899962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:40899961_40899962insC	ENST00000335693.4	+	14	1244_1245	c.1221_1222insC	c.(1222-1224)cccfs	p.P408fs	C7orf10_ENST00000309930.5_Frame_Shift_Ins_p.P434fs|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.P360fs	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		408					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGGCCAGGCCGCCCCCGCTGCT	0.569																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1297-1302)ccccccfs		chromosome 7 open reading frame 10																																				SO:0001589	frameshift_variant	79783						transferase activity	g.chr7:40899961_40899962insC																												ENST00000335693.4:c.1226dupC	7.37:g.40899966_40899966dupC	ENSP00000338475:p.Pro408fs		Somatic				C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Frame_Shift_Ins_p.PP407fs|C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.PP359fs	p.PP433fs	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	WXS	Illumina GAIIx	Phase_I	Q9HAC7	CG010_HUMAN			15	1323_1324	+			407					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Frame_Shift_Ins	INS	ENST00000335693.4	37	c.1299_1300insC	CCDS55105.1																																																																																				0.569	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			7	671						7	671	---	---	---	---
COBL	23242	broad.mit.edu	37	7	51287561	51287562	+	Frame_Shift_Ins	INS	-	-	G	rs368613191		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:51287561_51287562insG	ENST00000265136.7	-	2	286_287	c.121_122insC	c.(121-123)cacfs	p.H41fs	COBL_ENST00000441453.1_Frame_Shift_Ins_p.H41fs|COBL_ENST00000395542.2_Frame_Shift_Ins_p.H41fs|COBL_ENST00000395540.2_Frame_Shift_Ins_p.H41fs	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	41					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGCCCCATCGTGGGGGGGCTTC	0.604																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(121-123)cgafs		cordon-bleu WH2 repeat protein																																				SO:0001589	frameshift_variant	23242							g.chr7:51287561_51287562insG	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.122dupC	7.37:g.51287568_51287568dupG	ENSP00000265136:p.His41fs		Somatic				COBL_ENST00000265136.7_Frame_Shift_Ins_p.R41fs|COBL_ENST00000441453.1_Frame_Shift_Ins_p.R41fs|COBL_ENST00000395540.2_Frame_Shift_Ins_p.R41fs	p.R41fs			WXS	Illumina GAIIx	Phase_I	O75128	COBL_HUMAN			2	305_306	-	Glioma(55;0.08)		41					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Frame_Shift_Ins	INS	ENST00000265136.7	37	c.121_122insC	CCDS34637.1																																																																																				0.604	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		7	122						7	122	---	---	---	---
ASL	435	broad.mit.edu	37	7	65557834	65557835	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:65557834_65557835delGC	ENST00000304874.9	+	17	1432_1433	c.1330_1331delGC	c.(1330-1332)gcgfs	p.A444fs	ASL_ENST00000395331.3_Frame_Shift_Del_p.A424fs|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Frame_Shift_Del_p.A418fs|ASL_ENST00000395332.3_Frame_Shift_Del_p.A444fs|AC068533.7_ENST00000450043.1_Intron	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	444					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GGGCGGCACTGCGCGCTCCAGC	0.668																																						ENST00000304874.9																			0				breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18	GRCh37	CM022322	ASL	M		c.(1330-1332)gfs		argininosuccinate lyase	L-Arginine(DB00125)																																			SO:0001589	frameshift_variant	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65557834_65557835delGC		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1330_1331delGC	7.37:g.65557838_65557839delGC	ENSP00000307188:p.Ala444fs		Somatic				ASL_ENST00000395332.3_Frame_Shift_Del_p.A444fs|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000395331.3_Frame_Shift_Del_p.A424fs|ASL_ENST00000380839.4_Frame_Shift_Del_p.A418fs|ASL_ENST00000464970.1_3'UTR	p.A444fs	NM_000048.3	NP_000039.2	WXS	Illumina GAIIx	Phase_I	P04424	ARLY_HUMAN			17	1432_1433	+			444					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Frame_Shift_Del	DEL	ENST00000304874.9	37	c.1330_1331delGC	CCDS5531.1																																																																																				0.668	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		10	81						10	81	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11244)atggggfs	p.MG3747fs	AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.MG3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.MG3743fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11239-11241)aggfs		A kinase (PRKA) anchor protein 9																																				SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91732038_91732039insG	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11247dupG	7.37:g.91732045_91732045dupG	ENSP00000351922:p.Met3747fs		Somatic				AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs	p.R3747fs			WXS	Illumina GAIIx	Phase_I	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		46	11465_11466	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3747					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Ins	INS	ENST00000359028.2	37	c.11240_11241insG																																																																																					0.535	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		17	279						17	279	---	---	---	---
HEPACAM2	253012	broad.mit.edu	37	7	92838073	92838074	+	Frame_Shift_Ins	INS	-	-	G	rs201059129		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:92838073_92838074insG	ENST00000394468.2	-	4	908_909	c.831_832insC	c.(829-834)cccaacfs	p.N278fs	HEPACAM2_ENST00000341723.4_Frame_Shift_Ins_p.N266fs|HEPACAM2_ENST00000440868.1_Frame_Shift_Ins_p.N266fs|HEPACAM2_ENST00000453812.2_Frame_Shift_Ins_p.N301fs	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	278	Ig-like C2-type 2.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GAGTAGGTGTTGGGGGGATGAG	0.431																																						ENST00000394468.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(829-834)ccacacfs		HEPACAM family member 2																																				SO:0001589	frameshift_variant	253012					integral to membrane		g.chr7:92838073_92838074insG	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.832dupC	7.37:g.92838079_92838079dupG	ENSP00000377980:p.Asn278fs		Somatic				HEPACAM2_ENST00000341723.4_Frame_Shift_Ins_p.H266fs|HEPACAM2_ENST00000453812.2_Frame_Shift_Ins_p.H301fs|HEPACAM2_ENST00000440868.1_Frame_Shift_Ins_p.H266fs	p.H278fs	NM_001039372.1	NP_001034461.1	WXS	Illumina GAIIx	Phase_I	A8MVW5	HECA2_HUMAN			4	908_909	-			278			Ig-like C2-type 2.		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Frame_Shift_Ins	INS	ENST00000394468.2	37	c.831_832insC	CCDS43616.1																																																																																				0.431	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		7	309						7	309	---	---	---	---
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1005)agccccfs	p.SP334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569																																						ENST00000332397.6																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1000-1002)accfs		speedy/RINGO cell cycle regulator family member E3																																				SO:0001589	frameshift_variant	441272							g.chr7:99912173_99912174insC	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1007dupC	7.37:g.99912179_99912179dupC	ENSP00000329565:p.Ser334fs		Somatic				SPDYE3_ENST00000437326.2_5'UTR	p.T334fs	NM_001004351.4	NP_001004351.3	WXS	Illumina GAIIx	Phase_I	A6NKU9	SPDE3_HUMAN			6	1185_1186	+			334					Q495Y9|Q6PHC4	Frame_Shift_Ins	INS	ENST00000332397.6	37	c.1001_1002insC	CCDS47658.2																																																																																				0.569	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		16	409						16	409	---	---	---	---
FBXO24	26261	broad.mit.edu	37	7	100187685	100187686	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:100187685_100187686insC	ENST00000241071.6	+	2	447_448	c.125_126insC	c.(124-129)ttccccfs	p.FP42fs	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.FP42fs|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.FP30fs|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.FP80fs|FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.FP42fs	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	42	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ATCCAGTTGTTCCCCCCAGAGC	0.569																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(124-126)tccfs		F-box protein 24																																				SO:0001589	frameshift_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100187685_100187686insC	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.131dupC	7.37:g.100187691_100187691dupC	ENSP00000241071:p.Phe42fs		Somatic				FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.S30fs|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.S80fs|FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.S42fs	p.S42fs	NM_033506.2	NP_277041.1	WXS	Illumina GAIIx	Phase_I	O75426	FBX24_HUMAN			2	447_448	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		42			F-box.		A4D2D4|B4DX91|B4DY42|Q9H0G1	Frame_Shift_Ins	INS	ENST00000241071.6	37	c.125_126insC	CCDS5698.1																																																																																				0.569	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			8	445						8	445	---	---	---	---
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C	rs538448756		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1170)tgccccfs	p.CP389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.51																																						ENST00000223061.5																			2	Insertion - Frameshift(2)	p.M392fs*>59(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(1165-1167)tccfs		procollagen C-endopeptidase enhancer																																				SO:0001589	frameshift_variant	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100205413_100205414insC	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1173dupC	7.37:g.100205420_100205420dupC	ENSP00000223061:p.Cys389fs		Somatic					p.S389fs	NM_002593.3	NP_002584.2	WXS	Illumina GAIIx	Phase_I	Q15113	PCOC1_HUMAN			8	1446_1447	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		389			NTR.		B2R9E1|O14550	Frame_Shift_Ins	INS	ENST00000223061.5	37	c.1166_1167insC	CCDS5700.1																																																																																				0.510	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		8	216						8	216	---	---	---	---
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G	rs571529719		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-360)atggggfs	p.MG119fs	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564																																						ENST00000337619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8						c.(355-357)aggfs		adaptor-related protein complex 1, sigma 1 subunit																																				SO:0001589	frameshift_variant	1174				intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity	g.chr7:100802404_100802405insG	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.364dupG	7.37:g.100802412_100802412dupG	ENSP00000336666:p.Met119fs		Somatic					p.R119fs	NM_001283.3	NP_001274.1	WXS	Illumina GAIIx	Phase_I	P61966	AP1S1_HUMAN			4	474_475	+	Lung NSC(181;0.168)|all_lung(186;0.215)		119					B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Frame_Shift_Ins	INS	ENST00000337619.5	37	c.356_357insG	CCDS47669.1																																																																																				0.564	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283		7	164						7	164	---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	133682284	133682285	+	Frame_Shift_Ins	INS	-	-	C	rs34608222	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:133682284_133682285insC	ENST00000253861.4	+	15	2275_2276	c.2246_2247insC	c.(2245-2250)ctccccfs	p.LP749fs	EXOC4_ENST00000541309.1_Frame_Shift_Ins_p.LP37fs|EXOC4_ENST00000539845.1_Frame_Shift_Ins_p.LP648fs|EXOC4_ENST00000545148.1_Frame_Shift_Ins_p.LP359fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	749					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AACACGGATCTCCCCCCAGTGT	0.46																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(2245-2247)cccfs		exocyst complex component 4																																				SO:0001589	frameshift_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133682284_133682285insC	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2252dupC	7.37:g.133682290_133682290dupC	ENSP00000253861:p.Leu749fs		Somatic				EXOC4_ENST00000541309.1_Frame_Shift_Ins_p.P37fs|EXOC4_ENST00000539845.1_Frame_Shift_Ins_p.P648fs|EXOC4_ENST00000545148.1_Frame_Shift_Ins_p.P359fs	p.P749fs	NM_021807.3	NP_068579.3	WXS	Illumina GAIIx	Phase_I	Q96A65	EXOC4_HUMAN			15	2275_2276	+		Esophageal squamous(399;0.129)	749					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Frame_Shift_Ins	INS	ENST00000253861.4	37	c.2246_2247insC	CCDS5829.1																																																																																				0.460	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		8	250						8	250	---	---	---	---
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C	rs574092449|rs372744309	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160									T cell receptor beta variable 4-2																		TTTGTCCCTTTCCCCCCGCAGT	0.485																																						ENST00000390392.3																			0																																																			28616							g.chr7:142045511_142045512insC	U07975		7q34	2012-02-07			ENSG00000211745	ENSG00000211745		"""T cell receptors / TRB locus"""	12216	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV42, TCRBV4S2, TCRBV7S3A2T			OTTHUMG00000158525		7.37:g.142045517_142045517dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	160	+									RNA	INS	ENST00000390392.3	37																																																																																						0.485	TRBV4-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351231.1	NG_001333		7	410						7	410	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)gggccafs	p.P424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1267-1272)ggcattfs		transient receptor potential cation channel, subfamily V, member 5				0,4264		0,0,2132						4.4	0.1			148	2,8252		0,2,4125	no	frameshift	TRPV5	NM_019841.4		0,2,6257	A1A1,A1R,RR		0.0242,0.0,0.016				2,12516				SO:0001589	frameshift_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142612493_142612494insC	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1270dupG	7.37:g.142612499_142612499dupC	ENSP00000265310:p.Pro424fs		Somatic					p.I424fs	NM_019841.4	NP_062815.2	WXS	Illumina GAIIx	Phase_I	Q9NQA5	TRPV5_HUMAN			10	1617_1618	-	Melanoma(164;0.059)		424					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Frame_Shift_Ins	INS	ENST00000265310.1	37	c.1269_1270insG	CCDS5875.1																																																																																				0.505	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		7	668						7	668	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2088682	2088683	+	Frame_Shift_Ins	INS	-	-	G	rs34620424	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:2088682_2088683insG	ENST00000262113.4	+	33	3978_3979	c.3837_3838insG	c.(3838-3840)gggfs	p.G1280fs	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.G705fs	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1280					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATATGAGAATCGGGGGGAGTGA	0.446																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(3835-3840)atggggfs		myomesin 2																																				SO:0001589	frameshift_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2088682_2088683insG		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3843dupG	8.37:g.2088688_2088688dupG	ENSP00000262113:p.Gly1280fs		Somatic				MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs	p.MG1279fs	NM_003970.2	NP_003961.2	WXS	Illumina GAIIx	Phase_I	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	33	3978_3979	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1279					Q7Z3Y2	Frame_Shift_Ins	INS	ENST00000262113.4	37	c.3837_3838insG	CCDS5957.1																																																																																				0.446	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		7	583						7	583	---	---	---	---
GATA4	2626	broad.mit.edu	37	8	11565860	11565861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:11565860_11565861insC	ENST00000335135.4	+	2	597_598	c.39_40insC	c.(40-42)cccfs	p.P14fs	GATA4_ENST00000528712.1_Intron|GATA4_ENST00000532059.1_Frame_Shift_Ins_p.P14fs	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	14					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		ACCACGGGCCGCCCCCCGGTGC	0.733																																						ENST00000335135.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13						c.(37-42)ccccccfs		GATA binding protein 4																																				SO:0001589	frameshift_variant	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11565860_11565861insC	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.45dupC	8.37:g.11565866_11565866dupC	ENSP00000334458:p.Pro14fs		Somatic				GATA4_ENST00000528712.1_Intron|GATA4_ENST00000532059.1_Frame_Shift_Ins_p.PP13fs	p.PP13fs	NM_002052.3	NP_002043.2	WXS	Illumina GAIIx	Phase_I	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	2	597_598	+	all_epithelial(15;0.0839)		13					B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Frame_Shift_Ins	INS	ENST00000335135.4	37	c.39_40insC	CCDS5983.1																																																																																				0.733	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		2	4						2	4	---	---	---	---
FDFT1	2222	broad.mit.edu	37	8	11679330	11679332	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:11679330_11679332delCAT	ENST00000220584.4	+	4	675_677	c.453_455delCAT	c.(451-456)ggcatt>ggt	p.I152del	FDFT1_ENST00000525900.1_In_Frame_Del_p.I145del|FDFT1_ENST00000528812.1_In_Frame_Del_p.I88del|FDFT1_ENST00000538689.1_In_Frame_Del_p.I41del|FDFT1_ENST00000443614.2_Intron|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000528643.1_In_Frame_Del_p.I67del|FDFT1_ENST00000525777.1_In_Frame_Del_p.I67del|FDFT1_ENST00000530664.1_In_Frame_Del_p.I88del	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	152					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		GGAGAATGGGCATTGGGATGGCA	0.429																																						ENST00000220584.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12						c.(451-456)ggt>gg		farnesyl-diphosphate farnesyltransferase 1																																				SO:0001651	inframe_deletion	2222				cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	g.chr8:11679330_11679332delCAT	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.453_455delCAT	8.37:g.11679330_11679332delCAT	ENSP00000220584:p.Ile152del		Somatic				FDFT1_ENST00000525900.1_In_Frame_Del_p.GI144del|FDFT1_ENST00000538689.1_In_Frame_Del_p.GI40del|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000528812.1_In_Frame_Del_p.GI87del|FDFT1_ENST00000530664.1_In_Frame_Del_p.GI87del|FDFT1_ENST00000528643.1_In_Frame_Del_p.GI66del|FDFT1_ENST00000443614.2_Intron|FDFT1_ENST00000525777.1_In_Frame_Del_p.GI66del	p.GI151del	NM_004462.3	NP_004453.3	WXS	Illumina GAIIx	Phase_I	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)	4	675_677	+	all_epithelial(15;0.234)		151					B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	In_Frame_Del	DEL	ENST00000220584.4	37	c.453_455delCAT	CCDS5985.1																																																																																				0.429	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2			7	304						7	304	---	---	---	---
RHOBTB2	23221	broad.mit.edu	37	8	22865591	22865592	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:22865591_22865592insG	ENST00000251822.6	+	6	2124_2125	c.1587_1588insG	c.(1588-1590)gggfs	p.G530fs	RHOBTB2_ENST00000522948.1_Frame_Shift_Ins_p.G537fs|RHOBTB2_ENST00000519685.1_Frame_Shift_Ins_p.G552fs|RP11-875O11.1_ENST00000502083.2_RNA|RP11-875O11.1_ENST00000523884.1_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	530	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CTGCCATGTTTGGGGGGCCATT	0.559																																						ENST00000251822.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(1585-1590)ttggggfs		Rho-related BTB domain containing 2																																				SO:0001589	frameshift_variant	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22865591_22865592insG	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.1593dupG	8.37:g.22865597_22865597dupG	ENSP00000251822:p.Gly530fs		Somatic				RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Frame_Shift_Ins_p.LG551fs|RHOBTB2_ENST00000522948.1_Frame_Shift_Ins_p.LG536fs	p.LG529fs	NM_015178.2	NP_055993.2	WXS	Illumina GAIIx	Phase_I	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	6	2124_2125	+		Prostate(55;0.0513)|Breast(100;0.214)	529			BTB 2.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Frame_Shift_Ins	INS	ENST00000251822.6	37	c.1587_1588insG	CCDS6034.1																																																																																				0.559	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			10	247						10	247	---	---	---	---
ADRA1A	148	broad.mit.edu	37	8	26722382	26722383	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:26722382_26722383insC	ENST00000519229.1	-	1	110_111	c.104_105insG	c.(103-105)ggcfs	p.G35fs	ADRA1A_ENST00000354550.4_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000380582.3_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000380573.3_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000358857.5_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000276393.4_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000380581.2_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000380572.3_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000380586.1_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000380587.1_Frame_Shift_Ins_p.G35fs			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	105				MTFRDLLSVSFEGPRPDSSAGGSSAGGGGGSAGGAAPSEGP AVGGVPGGAGGGGGVVGAGSGEDNRSSAGEPGSAGAGGDVN G -> MAAALRSVMMAGYLSEWRTPTYRSTEMVQRLRMEAV QHSTS (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	AAAGAATGAGGCCCCCCAAGAT	0.569																																						ENST00000380573.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(103-105)gctfs		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)																																			SO:0001589	frameshift_variant	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26722382_26722383insC	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.105dupG	8.37:g.26722388_26722388dupC	ENSP00000430793:p.Gly35fs		Somatic				ADRA1A_ENST00000519229.1_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380572.3_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380581.2_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380582.3_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000358857.5_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000354550.4_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000276393.4_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380587.1_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380586.1_Frame_Shift_Ins_p.A35fs	p.A35fs			WXS	Illumina GAIIx	Phase_I	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	2	1127_1128	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	35					Q9NPY0	Frame_Shift_Ins	INS	ENST00000519229.1	37	c.104_105insG																																																																																					0.569	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		8	231						8	231	---	---	---	---
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)gccfs	p.A13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	13					brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										GAGAGGCCTCGCCCCCCGAGAG	0.54																																						ENST00000331373.5																			0											c.(37-39)cccfs						3,4261		0,3,2129						-9.6	0.0			82	3,8251		0,3,4124	no	frameshift	SGK196	NM_032237.3		0,6,6253	A1A1,A1R,RR		0.0363,0.0704,0.0479				6,12512				SO:0001589	frameshift_variant	84197					integral to membrane	ATP binding|protein kinase activity	g.chr8:42958728_42958729insC		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.43dupC	8.37:g.42958734_42958734dupC	ENSP00000331258:p.Ala13fs		Somatic					p.P13fs	NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	WXS	Illumina GAIIx	Phase_I	Q9H5K3	SG196_HUMAN			4	292_293	+			13						Frame_Shift_Ins	INS	ENST00000331373.5	37	c.37_38insC	CCDS6141.1																																																																																				0.540	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		9	196						9	196	---	---	---	---
TMEM68	137695	broad.mit.edu	37	8	56675226	56675227	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:56675226_56675227insT	ENST00000434581.2	-	3	491_492	c.292_293insA	c.(292-294)actfs	p.T98fs	TMEM68_ENST00000522576.1_Frame_Shift_Ins_p.T98fs|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000334667.2_Frame_Shift_Ins_p.T98fs|TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000521229.1_Frame_Shift_Ins_p.T98fs			Q96MH6	TMM68_HUMAN	transmembrane protein 68	98						integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			ATCCCACAGAGTTGCCACTGTT	0.401																																						ENST00000434581.2																			0				NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(292-294)tctfs		transmembrane protein 68																																				SO:0001589	frameshift_variant	137695					integral to membrane	acyltransferase activity	g.chr8:56675226_56675227insT	AK056932	CCDS6161.1, CCDS75740.1, CCDS75741.1, CCDS75742.1	8q12.1	2011-12-12			ENSG00000167904	ENSG00000167904			26510	protein-coding gene	gene with protein product						12477932	Standard	XM_005251150		Approved	FLJ32370	uc003xsh.1	Q96MH6	OTTHUMG00000164293	ENST00000434581.2:c.293dupA	8.37:g.56675228_56675228dupT	ENSP00000395204:p.Thr98fs		Somatic				TMEM68_ENST00000522576.1_Frame_Shift_Ins_p.S98fs|TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000521229.1_Frame_Shift_Ins_p.S98fs|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000334667.2_Frame_Shift_Ins_p.S98fs	p.S98fs			WXS	Illumina GAIIx	Phase_I	Q96MH6	TMM68_HUMAN	Epithelial(17;0.000361)|all cancers(17;0.00326)		3	491_492	-			98					Q658X6|Q8WUD2	Frame_Shift_Ins	INS	ENST00000434581.2	37	c.292_293insA																																																																																					0.401	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378137.1	NM_152417		251	362						251	362	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4654-4656)cccfs		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)																																				SO:0001589	frameshift_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68128855_68128856insG	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4656dupC	8.37:g.68128862_68128862dupG	ENSP00000262215:p.Pro1552fs		Somatic				ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	p.P1552fs	NM_006421.4	NP_006412.2	WXS	Illumina GAIIx	Phase_I	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		33	5044_5045	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1552					Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Ins	INS	ENST00000262215.3	37	c.4655_4656insC	CCDS6199.1																																																																																				0.421	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		16	167						16	167	---	---	---	---
ODF1	4956	broad.mit.edu	37	8	103572984	103572992	+	In_Frame_Del	DEL	TGCAGCCCC	TGCAGCCCC	-	rs3018444|rs386728346|rs62636531	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:103572984_103572992delTGCAGCCCC	ENST00000285402.3	+	2	781_789	c.625_633delTGCAGCCCC	c.(625-633)tgcagccccdel	p.CSP215del	ODF1_ENST00000518835.1_Splice_Site_p.MQ3del	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	215	C-X-P repeat region.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CACTTCTCCTtgcagcccctgcagcccct	0.584																																						ENST00000285402.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(625-633)del		outer dense fiber of sperm tails 1																																				SO:0001651	inframe_deletion	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103572984_103572992delTGCAGCCCC	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.625_633delTGCAGCCCC	8.37:g.103572993_103573001delTGCAGCCCC	ENSP00000285402:p.Cys215_Pro217del		Somatic				ODF1_ENST00000518835.1_Splice_Site_p.3_splice	p.CSP215del	NM_024410.3	NP_077721.2	WXS	Illumina GAIIx	Phase_I	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		2	781_789	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		215			C-X-P repeat region.		Q3SX72	In_Frame_Del	DEL	ENST00000285402.3	37	c.625_633delTGCAGCCCC	CCDS6293.1																																																																																				0.584	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			12	80						12	80	---	---	---	---
TG	7038	broad.mit.edu	37	8	133923643	133923657	+	In_Frame_Del	DEL	GTTTCCATTCCTGTC	GTTTCCATTCCTGTC	-	rs147183756		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:133923643_133923657delGTTTCCATTCCTGTC	ENST00000220616.4	+	19	4064_4078	c.4024_4038delGTTTCCATTCCTGTC	c.(4024-4038)gtttccattcctgtcdel	p.VSIPV1342del	TG_ENST00000377869.1_In_Frame_Del_p.VSIPV1342del	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1342					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGCACCCTGGTTTCCATTCCTGTCTGCAACAACT	0.488																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4024-4038)del		thyroglobulin																																				SO:0001651	inframe_deletion	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133923643_133923657delGTTTCCATTCCTGTC	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4024_4038delGTTTCCATTCCTGTC	8.37:g.133923643_133923657delGTTTCCATTCCTGTC	ENSP00000220616:p.Val1342_Val1346del		Somatic				TG_ENST00000377869.1_In_Frame_Del_p.VSIPV1342del	p.VSIPV1342del	NM_003235.4	NP_003226.4	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	19	4064_4078	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1342					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	In_Frame_Del	DEL	ENST00000220616.4	37	c.4024_4038delGTTTCCATTCCTGTC	CCDS34944.1																																																																																				0.488	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		171	434						171	434	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14848680	14848681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:14848680_14848681insG	ENST00000380880.3	-	7	2026_2027	c.1243_1244insC	c.(1243-1245)cgtfs	p.R415fs	FREM1_ENST00000422223.2_Frame_Shift_Ins_p.R415fs|RNU6-1260P_ENST00000362944.1_RNA|FREM1_ENST00000380881.4_Frame_Shift_Ins_p.R416fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	415					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAGGATACACGGGGGGCATTT	0.426																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1246-1248)tgtfs		FRAS1 related extracellular matrix 1																																				SO:0001589	frameshift_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14848680_14848681insG	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1244dupC	9.37:g.14848686_14848686dupG	ENSP00000370262:p.Arg415fs		Somatic				FREM1_ENST00000422223.2_Frame_Shift_Ins_p.C415fs|FREM1_ENST00000380880.3_Frame_Shift_Ins_p.C415fs	p.C416fs			WXS	Illumina GAIIx	Phase_I	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	8	2061_2062	-			415					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Frame_Shift_Ins	INS	ENST00000380880.3	37	c.1246_1247insC	CCDS47952.1																																																																																				0.426	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		7	133						7	133	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18829842	18829843	+	Splice_Site	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:18829842_18829843insC	ENST00000380548.4	+	23	4455_4456	c.4116_4117insC	c.(4117-4119)ccc>Cccc	p.P1373fs	ADAMTSL1_ENST00000380545.5_Splice_Site_p.P74fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1373						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCTCACAGATCCCCCCCAAGT	0.564																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.e23-1		ADAMTS-like 1																																				SO:0001630	splice_region_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18829842_18829843insC	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4115-1->C	9.37:g.18829849_18829849dupC			Somatic				ADAMTSL1_ENST00000380545.5_Splice_Site_p.DP73_splice	p.DP1372_splice	NM_001040272.5	NP_001035362.3	WXS	Illumina GAIIx	Phase_I	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	23	4455_4456	+			1372					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Splice_Site	INS	ENST00000380548.4	37	c.4114_splice	CCDS47954.1																																																																																				0.564	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		Frame_Shift_Ins	9	170						9	170	---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35045128	35045129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:35045128_35045129insC	ENST00000312292.5	+	2	2549_2550	c.2502_2503insC	c.(2503-2505)cccfs	p.P835fs	C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.P762fs|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.P787fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	835										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCAGATTTATCCCCCCAATCC	0.54																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(2500-2505)taccccfs		chromosome 9 open reading frame 131																																				SO:0001589	frameshift_variant	138724							g.chr9:35045128_35045129insC	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2508dupC	9.37:g.35045134_35045134dupC	ENSP00000308279:p.Pro835fs		Somatic				C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.YP786fs|C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.YP761fs	p.YP834fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	WXS	Illumina GAIIx	Phase_I	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2549_2550	+	all_epithelial(49;0.22)		834					A6NLE6|E9PB26|Q86XC6|Q9UF74	Frame_Shift_Ins	INS	ENST00000312292.5	37	c.2502_2503insC	CCDS6572.2																																																																																				0.540	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		14	1022						14	1022	---	---	---	---
GLIPR2	152007	broad.mit.edu	37	9	36147846	36147847	+	Frame_Shift_Ins	INS	-	-	C	rs60088684	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:36147846_36147847insC	ENST00000377960.4	+	2	111_112	c.77_78insC	c.(76-81)gtccccfs	p.VP26fs	GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000377959.1_Frame_Shift_Ins_p.VP26fs	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	26	SCP.				positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						AAGCACGGCGTCCCCCCACTGA	0.54																																						ENST00000377960.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						c.(76-78)gccfs		GLI pathogenesis-related 2																																				SO:0001589	frameshift_variant	152007					extracellular region|Golgi membrane		g.chr9:36147846_36147847insC	AY039756	CCDS6598.1, CCDS69595.1, CCDS75832.1, CCDS75833.1	9p13.3	2008-08-15	2008-08-15	2008-08-15	ENSG00000122694	ENSG00000122694			18007	protein-coding gene	gene with protein product		607141	"""chromosome 9 open reading frame 19"""	C9orf19		12137952, 11865038	Standard	NM_022343		Approved	GAPR-1	uc003zyz.3	Q9H4G4	OTTHUMG00000019900	ENST00000377960.4:c.83dupC	9.37:g.36147852_36147852dupC	ENSP00000367196:p.Val26fs		Somatic				GLIPR2_ENST00000377959.1_Frame_Shift_Ins_p.A26fs|GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR	p.A26fs	NM_022343.2	NP_071738.1	WXS	Illumina GAIIx	Phase_I	Q9H4G4	GAPR1_HUMAN			2	111_112	+			26					Q5VZR1|Q8N2S6|Q8WWC9|Q8WX36	Frame_Shift_Ins	INS	ENST00000377960.4	37	c.77_78insC	CCDS6598.1																																																																																				0.540	GLIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052414.1	NM_022343		7	455						7	455	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)ggcfs	p.G592fs	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGTAGGCGAAGCCCCCCCAGAC	0.54																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(1774-1776)gttfs		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107593322_107593323insC	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1776dupG	9.37:g.107593329_107593329dupC	ENSP00000363868:p.Gly592fs		Somatic					p.V592fs	NM_005502.3	NP_005493.2	WXS	Illumina GAIIx	Phase_I	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	14	2169_2170	-			592					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Ins	INS	ENST00000374736.3	37	c.1775_1776insG	CCDS6762.1																																																																																				0.540	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		14	219						14	219	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)gccfs	p.A678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(2032-2034)cccfs		pregnancy-associated plasma protein A, pappalysin 1																																				SO:0001589	frameshift_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118982329_118982330insC		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2038dupC	9.37:g.118982335_118982335dupC	ENSP00000330658:p.Ala678fs		Somatic				PAPPA_ENST00000534838.1_Intron	p.P678fs	NM_002581.3	NP_002572.2	WXS	Illumina GAIIx	Phase_I	Q13219	PAPP1_HUMAN			5	2401_2402	+			678					B1AMF9|Q08371|Q68G52|Q9UDK7	Frame_Shift_Ins	INS	ENST00000328252.3	37	c.2032_2033insC	CCDS6813.1																																																																																				0.574	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		13	321						13	321	---	---	---	---
CRAT	1384	broad.mit.edu	37	9	131864813	131864814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:131864813_131864814insC	ENST00000318080.2	-	5	789_790	c.495_496insG	c.(493-498)gggaagfs	p.K166fs	CRAT_ENST00000464290.1_5'UTR|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	166					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CACAGTGGCTTCCCCCCCAGGT	0.609																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(493-498)ggagccfs		carnitine O-acetyltransferase	L-Carnitine(DB00583)																																			SO:0001589	frameshift_variant	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131864813_131864814insC	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.496dupG	9.37:g.131864820_131864820dupC	ENSP00000315013:p.Lys166fs		Somatic				CRAT_ENST00000464290.1_5'UTR	p.A166fs	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	WXS	Illumina GAIIx	Phase_I	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	5	789_790	-			166					Q5T952|Q9BW16	Frame_Shift_Ins	INS	ENST00000318080.2	37	c.495_496insG	CCDS6919.1																																																																																				0.609	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			13	337						13	337	---	---	---	---
GFI1B	8328	broad.mit.edu	37	9	135865199	135865200	+	Frame_Shift_Ins	INS	-	-	GC	rs375635333		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:135865199_135865200insGC	ENST00000339463.3	+	10	1538_1539	c.719_720insGC	c.(718-723)ctcatcfs	p.I241fs	GFI1B_ENST00000372122.1_Frame_Shift_Ins_p.I241fs|GFI1B_ENST00000372123.1_Frame_Shift_Ins_p.I195fs|GFI1B_ENST00000372124.1_Frame_Shift_Ins_p.I195fs|GFI1B_ENST00000450530.1_Frame_Shift_Ins_p.I241fs|GFI1B_ENST00000534944.1_Frame_Shift_Ins_p.I195fs			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	241	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		ACCCACCTGCTCATCCACTCAG	0.629																																						ENST00000339463.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(718-720)catfs		growth factor independent 1B transcription repressor																																				SO:0001589	frameshift_variant	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135865199_135865200insGC	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	Exception_encountered	9.37:g.135865199_135865200insGC	ENSP00000344782:p.Ile241fs		Somatic				GFI1B_ENST00000372124.1_Frame_Shift_Ins_p.H194fs|GFI1B_ENST00000372123.1_Frame_Shift_Ins_p.H194fs|GFI1B_ENST00000450530.1_Frame_Shift_Ins_p.H240fs|GFI1B_ENST00000372122.1_Frame_Shift_Ins_p.H240fs|GFI1B_ENST00000534944.1_Frame_Shift_Ins_p.H194fs	p.H240fs			WXS	Illumina GAIIx	Phase_I	Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	10	1538_1539	+			240			Interaction with ARIH2.|Mediates interaction with GATA1.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Frame_Shift_Ins	INS	ENST00000339463.3	37	c.719_720insGC	CCDS6957.1																																																																																				0.629	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		11	70						11	70	---	---	---	---
ZMYND19	116225	broad.mit.edu	37	9	140481541	140481542	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:140481541_140481542insC	ENST00000298585.2	-	4	462_463	c.236_237insG	c.(235-237)ggcfs	p.G79fs	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	79						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)	p.V80fs*34(2)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCGGGGCCACGCCCCCCCGGTG	0.634																																						ENST00000298585.2																			2	Insertion - Frameshift(2)	p.V80fs*34(2)	large_intestine(2)	endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13						c.(235-237)ggtfs		zinc finger, MYND-type containing 19																																				SO:0001589	frameshift_variant	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140481541_140481542insC	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.237dupG	9.37:g.140481548_140481548dupC	ENSP00000298585:p.Gly79fs		Somatic				ZMYND19_ENST00000471957.1_5'UTR	p.G79fs	NM_138462.2	NP_612471.1	WXS	Illumina GAIIx	Phase_I	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	4	462_463	-	all_cancers(76;0.106)		79					Q5T366	Frame_Shift_Ins	INS	ENST00000298585.2	37	c.236_237insG	CCDS7048.1																																																																																				0.634	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462		11	242						11	242	---	---	---	---
TAF3	83860	broad.mit.edu	37	10	8006928	8006929	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:8006928_8006929insC	ENST00000344293.5	+	3	1661_1662	c.1455_1456insC	c.(1456-1458)cccfs	p.P486fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	486					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCAAATATGCCCCCCAACTT	0.49																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(1453-1458)atccccfs		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa																																				SO:0001589	frameshift_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006928_8006929insC	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1461dupC	10.37:g.8006934_8006934dupC	ENSP00000340271:p.Pro486fs		Somatic					p.IP485fs	NM_031923.3	NP_114129.1	WXS	Illumina GAIIx	Phase_I	Q5VWG9	TAF3_HUMAN			3	1661_1662	+			485					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Frame_Shift_Ins	INS	ENST00000344293.5	37	c.1455_1456insC	CCDS41487.1																																																																																				0.490	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		8	233						8	233	---	---	---	---
PHYH	5264	broad.mit.edu	37	10	13325834	13325835	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:13325834_13325835insC	ENST00000263038.4	-	7	741_742	c.683_684insG	c.(682-684)ggafs	p.G228fs	PHYH_ENST00000396920.3_Frame_Shift_Ins_p.G211fs|PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	228					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTTTGTTAACTCCCCCCTAGAA	0.465																																						ENST00000396920.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25	GRCh37	CI040643	PHYH	I		c.(631-633)ggtfs		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13325834_13325835insC		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.684dupG	10.37:g.13325840_13325840dupC	ENSP00000263038:p.Gly228fs		Somatic				PHYH_ENST00000263038.4_Frame_Shift_Ins_p.G228fs|PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs	p.G211fs			WXS	Illumina GAIIx	Phase_I	O14832	PAHX_HUMAN			7	1036_1037	-		Ovarian(717;0.0448)	228					A8MTS8|B1ALH5	Frame_Shift_Ins	INS	ENST00000263038.4	37	c.632_633insG	CCDS7097.1																																																																																				0.465	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			7	489						7	489	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:31809832_31809833insG	ENST00000320985.10	+	7	1679_1680	c.1569_1570insG	c.(1570-1572)gggfs	p.G524fs	ZEB1_ENST00000446923.2_Frame_Shift_Ins_p.G508fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.G504fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.G457fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.G525fs			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	524					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77	GRCh37	CD075582	ZEB1	D	rs35708848	c.(1519-1524)gaggggfs		zinc finger E-box binding homeobox 1																																				SO:0001589	frameshift_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809832_31809833insG	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1576dupG	10.37:g.31809839_31809839dupG	ENSP00000319248:p.Gly524fs		Somatic				ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs	p.EG507fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	WXS	Illumina GAIIx	Phase_I	P37275	ZEB1_HUMAN			7	1912_1913	+		Prostate(175;0.0156)	523					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Frame_Shift_Ins	INS	ENST00000320985.10	37	c.1521_1522insG	CCDS7169.1																																																																																				0.371	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		9	119						9	119	---	---	---	---
NCOA4	8031	broad.mit.edu	37	10	51586311	51586312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:51586311_51586312insC	ENST00000443446.1	+	9	1968_1969	c.1739_1740insC	c.(1738-1743)ttccccfs	p.FP580fs	NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.FP596fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.FP580fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.S535fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.FP414fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.FP480fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.FP580fs|NCOA4_ENST00000452682.1_Frame_Shift_Ins_p.FP596fs	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	580					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GAACATAACTTCCCCCCAGACC	0.416			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(1786-1788)tccfs		nuclear receptor coactivator 4																																				SO:0001589	frameshift_variant	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51586311_51586312insC	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1745dupC	10.37:g.51586317_51586317dupC	ENSP00000390713:p.Phe580fs		Somatic				NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.S414fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.S596fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.S480fs|NCOA4_ENST00000443446.1_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.P535fs	p.S596fs	NM_001145260.1	NP_001138732.1	WXS	Illumina GAIIx	Phase_I	Q13772	NCOA4_HUMAN			10	2039_2040	+			580					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Frame_Shift_Ins	INS	ENST00000443446.1	37	c.1787_1788insC	CCDS7237.1																																																																																				0.416	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		8	486						8	486	---	---	---	---
PALD1	27143	broad.mit.edu	37	10	72292440	72292441	+	Frame_Shift_Ins	INS	-	-	G	rs145337663	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:72292440_72292441insG	ENST00000263563.6	+	6	965_966	c.697_698insG	c.(697-699)tggfs	p.W233fs		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	233						cytosol (GO:0005829)											CGAGGACCTGTGGGGGGAGCCC	0.604																																						ENST00000263563.6																			0											c.(697-699)gggfs		phosphatase domain containing, paladin 1																																				SO:0001589	frameshift_variant	27143							g.chr10:72292440_72292441insG	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.703dupG	10.37:g.72292446_72292446dupG	ENSP00000263563:p.Trp233fs		Somatic					p.G233fs	NM_014431.2	NP_055246.2	WXS	Illumina GAIIx	Phase_I					6	965_966	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Frame_Shift_Ins	INS	ENST00000263563.6	37	c.697_698insG	CCDS31215.1																																																																																				0.604	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		8	712						8	712	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1368_1369insC	c.(1369-1371)ccc>Cccc	p.P457fs	SEC24C_ENST00000411652.2_Splice_Site_p.P338fs|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.P457fs	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	457					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.51																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.e11-1		SEC24 family member C																																				SO:0001630	splice_region_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75525559_75525560insC	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1367-1->C	10.37:g.75525566_75525566dupC			Somatic				SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron	p.VP456_splice	NM_004922.3	NP_004913.2	WXS	Illumina GAIIx	Phase_I	P53992	SC24C_HUMAN			11	1530_1531	+	Prostate(51;0.0112)		456					B4DZT4|Q8WV25	Splice_Site	INS	ENST00000339365.2	37	c.1366_splice	CCDS7332.1																																																																																				0.510	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		Frame_Shift_Ins	23	724						23	724	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75530787	75530788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:75530787_75530788insG	ENST00000339365.2	+	24	3381_3382	c.3219_3220insG	c.(3220-3222)gggfs	p.G1074fs	SEC24C_ENST00000411652.2_Frame_Shift_Ins_p.G955fs|SEC24C_ENST00000540668.1_Frame_Shift_Ins_p.G322fs|FUT11_ENST00000394790.1_5'Flank|SEC24C_ENST00000535742.1_Frame_Shift_Ins_p.G322fs|FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000345254.4_Frame_Shift_Ins_p.G1074fs	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	1074					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AGAGTCTGAGTGGGGGAGCATC	0.495																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(3217-3222)agggggfs		SEC24 family member C																																				SO:0001589	frameshift_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75530787_75530788insG	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.3224dupG	10.37:g.75530792_75530792dupG	ENSP00000343405:p.Gly1074fs		Somatic				SEC24C_ENST00000345254.4_Frame_Shift_Ins_p.RG1073fs|SEC24C_ENST00000411652.2_Frame_Shift_Ins_p.RG954fs|SEC24C_ENST00000535742.1_Frame_Shift_Ins_p.RG321fs|SEC24C_ENST00000540668.1_Frame_Shift_Ins_p.RG321fs	p.RG1073fs	NM_004922.3	NP_004913.2	WXS	Illumina GAIIx	Phase_I	P53992	SC24C_HUMAN			24	3381_3382	+	Prostate(51;0.0112)		1073					B4DZT4|Q8WV25	Frame_Shift_Ins	INS	ENST00000339365.2	37	c.3219_3220insG	CCDS7332.1																																																																																				0.495	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			7	831						7	831	---	---	---	---
ZSWIM8	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:75560463_75560464insC	ENST00000605216.1	+	24	5294_5295	c.5077_5078insC	c.(5077-5079)tccfs	p.S1693fs	ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.S1652fs|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604729.1_Frame_Shift_Ins_p.S1690fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.S1511fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.S1698fs|RP11-574K11.31_ENST00000603027.1_Intron	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1693							zinc ion binding (GO:0008270)										CTTCTCCCGCTCCCCCCCCTAC	0.604																																						ENST00000604729.1																			0											c.(5068-5070)cccfs		zinc finger, SWIM-type containing 8			,,	27,3721		0,27,1847					,,	4.9	1.0			133	23,7871		0,23,3924	no	frameshift,frameshift,frameshift	KIAA0913	NM_015037.3,NM_001242488.1,NM_001242487.1	,,	0,50,5771	A1A1,A1R,RR		0.2914,0.7204,0.4295	,,	,,		50,11592				SO:0001589	frameshift_variant	23053							g.chr10:75560463_75560464insC	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5085dupC	10.37:g.75560471_75560471dupC	ENSP00000474748:p.Ser1693fs		Somatic				ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs	p.P1690fs			WXS	Illumina GAIIx	Phase_I					24	5365_5366	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Ins	INS	ENST00000605216.1	37	c.5068_5069insC																																																																																					0.604	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		7	109						7	109	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89692920	89692921	+	Frame_Shift_Ins	INS	-	-	A	rs398123323|rs370795352		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:89692920_89692921insA	ENST00000371953.3	+	5	1761_1762	c.404_405insA	c.(403-408)atatgtfs	p.C136fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	136	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> Y (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P3). {ECO:0000269|PubMed:9735393}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.I135fs*44(3)|p.I135K(3)|p.I135fs*45(3)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.I135del(1)|p.I135fs*6(1)|p.A121_F145del(1)|p.I135fs*12(1)|p.I135M(1)|p.T131fs*42(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGTGTAATGATATGTGCATATT	0.386		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		66	Whole gene deletion(37)|Deletion - Frameshift(11)|Insertion - Frameshift(6)|Unknown(5)|Substitution - Missense(4)|Deletion - In frame(2)|Complex - deletion inframe(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.I135fs*44(3)|p.I135K(3)|p.I135fs*45(3)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.I135del(1)|p.I135fs*6(1)|p.A121_F145del(1)|p.I135fs*12(1)|p.I135M(1)|p.T131fs*42(1)|p.F56fs*2(1)	central_nervous_system(16)|prostate(16)|endometrium(8)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|ovary(4)|soft_tissue(1)|urinary_tract(1)|bone(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM064180	PTEN	M		c.(403-405)atgfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692920_89692921insA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.405dupA	10.37:g.89692921_89692921dupA	ENSP00000361021:p.Cys136fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic					p.M135fs	NM_000314.4	NP_000305.3	WXS	Illumina GAIIx	Phase_I	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1761_1762	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	135		I -> V (in BZS).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.404_405insA	CCDS31238.1																																																																																				0.386	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		171	156						171	156	---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)cccgaafs	p.E317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.47																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(946-951)ccaagafs		carboxypeptidase N, polypeptide 1																																				SO:0001589	frameshift_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101816832_101816833insG	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.949dupC	10.37:g.101816838_101816838dupG	ENSP00000359446:p.Glu317fs		Somatic					p.R317fs	NM_001308.2	NP_001299.1	WXS	Illumina GAIIx	Phase_I	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	6	1199_1200	-		Colorectal(252;0.234)	317			Catalytic.		B1AP59	Frame_Shift_Ins	INS	ENST00000370418.3	37	c.948_949insC	CCDS7486.1																																																																																				0.470	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		13	715						13	715	---	---	---	---
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	lincRNA	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114									long intergenic non-protein coding RNA 959																		CTTTGCCTCCAGGGGGGGAAGG	0.53																																						ENST00000456581.1																			0																																																			387723							g.chr10:131905959_131905960insG			10q26.3	2013-06-06			ENSG00000237489	ENSG00000237489		"""Long non-coding RNAs"""	48677	non-coding RNA	RNA, long non-coding							Standard	NR_034125		Approved				OTTHUMG00000019268		10.37:g.131905966_131905966dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	114	-									RNA	INS	ENST00000456581.1	37																																																																																						0.530	LINC00959-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000051025.1			11	120						11	120	---	---	---	---
OR52E4	390081	broad.mit.edu	37	11	5905552	5905553	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:5905552_5905553insC	ENST00000316987.2	+	1	52_53	c.30_31insC	c.(31-33)cccfs	p.P11fs		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACTTCTATCCCCCCTTCTT	0.441																																						ENST00000316987.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(28-33)taccccfs		olfactory receptor, family 52, subfamily E, member 4																																				SO:0001589	frameshift_variant	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5905552_5905553insC	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.36dupC	11.37:g.5905558_5905558dupC	ENSP00000321426:p.Pro11fs		Somatic					p.YP10fs	NM_001005165.1	NP_001005165.1	WXS	Illumina GAIIx	Phase_I	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	52_53	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	10					Q6IFG0	Frame_Shift_Ins	INS	ENST00000316987.2	37	c.30_31insC	CCDS31401.1																																																																																				0.441	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		10	614						10	614	---	---	---	---
E2F8	79733	broad.mit.edu	37	11	19251460	19251461	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:19251460_19251461insG	ENST00000527884.1	-	10	1665_1666	c.1433_1434insC	c.(1432-1434)ccafs	p.P478fs	E2F8_ENST00000250024.4_Frame_Shift_Ins_p.P478fs|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	478					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGCATTCACTGGGGGGTCCAG	0.55																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1432-1434)cgtfs		E2F transcription factor 8																																				SO:0001589	frameshift_variant	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19251460_19251461insG		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1434dupC	11.37:g.19251466_19251466dupG	ENSP00000434199:p.Pro478fs		Somatic				E2F8_ENST00000250024.4_Frame_Shift_Ins_p.R478fs|RP11-428C19.4_ENST00000527978.1_RNA	p.R478fs	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	WXS	Illumina GAIIx	Phase_I	A0AVK6	E2F8_HUMAN			10	1665_1666	-			478					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Frame_Shift_Ins	INS	ENST00000527884.1	37	c.1433_1434insC	CCDS7849.1																																																																																				0.550	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		11	767						11	767	---	---	---	---
PAX6	5080	broad.mit.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G	rs200015827		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:31812316_31812317insG	ENST00000379132.3	-	11	1404_1405	c.1124_1125insC	c.(1123-1125)ccafs	p.P375fs	PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000419022.1_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs			P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability; dbSNP:rs200015827). {ECO:0000269|PubMed:11309364}.		astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													ENST00000419022.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	GRCh37	CM011452	PAX6	M		c.(1165-1167)ccafs		paired box 6																																				SO:0001589	frameshift_variant	5080	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31812316_31812317insG	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.1125dupC	11.37:g.31812323_31812323dupG	ENSP00000368427:p.Pro375fs		Somatic				PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs	p.P389fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	WXS	Illumina GAIIx	Phase_I	P26367	PAX6_HUMAN			13	1634_1635	-	Lung SC(675;0.225)		375			Pro/Ser/Thr-rich.		Q6N006|Q99413	Frame_Shift_Ins	INS	ENST00000379132.3	37	c.1166_1167insC	CCDS31451.1																																																																																				0.589	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		9	130						9	130	---	---	---	---
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C	rs564123868		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)gaafs	p.E202fs	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.E219fs	NM_015957.2	NP_057041.2			APAF1 interacting protein											kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.45																																						ENST00000395787.3																			0				kidney(2)|lung(1)|skin(1)	4						c.(604-606)aacfs		APAF1 interacting protein																																				SO:0001589	frameshift_variant	51074				apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity	g.chr11:34904908_34904909insC	AF132963	CCDS7895.1	11p13	2014-05-12				ENSG00000149089	4.2.1.109		17581	protein-coding gene	gene with protein product	"""methylthioribulose-1-phosphate dehydratase"""	612491				10810093, 15262985, 24367089	Standard	NM_015957		Approved	CGI-29, Mmrp19, APIP2	uc001mvs.2	Q96GX9		ENST00000395787.3:c.605dupG	11.37:g.34904914_34904914dupC	ENSP00000379133:p.Glu202fs		Somatic				APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs	p.N202fs	NM_015957.2	NP_057041.2	WXS	Illumina GAIIx	Phase_I	Q96GX9	MTNB_HUMAN	STAD - Stomach adenocarcinoma(6;0.000425)		6	818_819	-	all_epithelial(35;0.161)	all_hematologic(20;0.107)	202						Frame_Shift_Ins	INS	ENST00000395787.3	37	c.604_605insG	CCDS7895.1																																																																																				0.450	APIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389864.1	NM_015957		7	785						7	785	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46880747	46880748	+	Frame_Shift_Ins	INS	-	-	C	rs560166088		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:46880747_46880748insC	ENST00000378623.1	-	38	5746_5747	c.5504_5505insG	c.(5503-5505)ggcfs	p.G1835fs	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1835					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(5503-5505)gctfs		low density lipoprotein receptor-related protein 4																																				SO:0001589	frameshift_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46880747_46880748insC	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5505dupG	11.37:g.46880754_46880754dupC	ENSP00000367888:p.Gly1835fs		Somatic				LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	p.A1835fs	NM_002334.3	NP_002325.2	WXS	Illumina GAIIx	Phase_I	O75096	LRP4_HUMAN		Lung(87;0.159)	38	5746_5747	-			1835					B2RN39|Q4AC85|Q5KTZ5	Frame_Shift_Ins	INS	ENST00000378623.1	37	c.5504_5505insG	CCDS31478.1																																																																																				0.564	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		9	246						9	246	---	---	---	---
C11orf49	79096	broad.mit.edu	37	11	47074000	47074001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:47074000_47074001insC	ENST00000278460.7	+	3	270_271	c.211_212insC	c.(211-213)accfs	p.T71fs	C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000378618.2_Frame_Shift_Ins_p.T71fs|C11orf49_ENST00000378615.3_Frame_Shift_Ins_p.T71fs|C11orf49_ENST00000395460.2_Frame_Shift_Ins_p.T71fs|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000527268.1_3'UTR	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	71						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CGTCCAAGCCACCCCCCACAAT	0.441																																						ENST00000395460.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						c.(211-213)cccfs		chromosome 11 open reading frame 49			,,,	1,4263		0,1,2131					,,,	6.0	1.0			144	0,8254		0,0,4127	no	frameshift,frameshift,frameshift,frameshift	C11orf49	NM_024113.3,NM_001003678.1,NM_001003677.1,NM_001003676.1	,,,	0,1,6258	A1A1,A1R,RR		0.0,0.0235,0.0080	,,,	,,,		1,12517				SO:0001589	frameshift_variant	79096							g.chr11:47074000_47074001insC	AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.217dupC	11.37:g.47074006_47074006dupC	ENSP00000278460:p.Thr71fs		Somatic				C11orf49_ENST00000278460.7_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000378615.3_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000378618.2_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000527268.1_3'UTR	p.P71fs	NM_001003676.1	NP_001003676.1	WXS	Illumina GAIIx	Phase_I	Q9H6J7	CK049_HUMAN			3	249_250	+			71					D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Frame_Shift_Ins	INS	ENST00000278460.7	37	c.211_212insC	CCDS7925.1																																																																																				0.441	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391218.1	NM_024113		12	475						12	475	---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(751-753)cccfs	p.P251fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.48																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(748-753)atccccfs		olfactory receptor, family 4, subfamily S, member 1																																				SO:0001589	frameshift_variant	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328524_48328525insC	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.756dupC	11.37:g.48328530_48328530dupC	ENSP00000321447:p.Pro251fs		Somatic					p.IP250fs	NM_001004725.1	NP_001004725.1	WXS	Illumina GAIIx	Phase_I	Q8NGB4	OR4S1_HUMAN			1	750_751	+			250					Q6IFB4	Frame_Shift_Ins	INS	ENST00000319988.1	37	c.750_751insC	CCDS31488.1																																																																																				0.480	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		9	953						9	953	---	---	---	---
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)cccaacfs	p.N220fs	SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.N233fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(655-660)ccactafs		solute carrier family 43, member 3																																				SO:0001589	frameshift_variant	29015				transmembrane transport	integral to membrane		g.chr11:57185234_57185235insG	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.658dupC	11.37:g.57185240_57185240dupG	ENSP00000378555:p.Asn220fs		Somatic				SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs	p.L220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	WXS	Illumina GAIIx	Phase_I	Q8NBI5	S43A3_HUMAN			8	961_962	-			220					B4DNR8|E7EQD2|Q9NSS4	Frame_Shift_Ins	INS	ENST00000395123.2	37	c.657_658insC	CCDS7956.1																																																																																				0.564	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		8	268						8	268	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)gccfs	p.A229fs	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AATGATGATGGCCCCCCCAAAG	0.49								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(685-687)catfs	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa																																				SO:0001589	frameshift_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61093159_61093160insC	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.686dupG	11.37:g.61093166_61093166dupC	ENSP00000301764:p.Ala229fs		Somatic				DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	p.H229fs	NM_001923.4	NP_001914.3	WXS	Illumina GAIIx	Phase_I	Q16531	DDB1_HUMAN			6	1082_1083	-			229			Interaction with CDT1.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Frame_Shift_Ins	INS	ENST00000301764.7	37	c.685_686insG	CCDS31576.1																																																																																				0.490	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		9	69						9	69	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G	rs548830763		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:61183884_61183885insG	ENST00000394888.4	-	6	829_830	c.657_658insC	c.(655-660)cccagtfs	p.S220fs	CPSF7_ENST00000340437.4_Frame_Shift_Ins_p.S263fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.S211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.S211fs	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(784-789)ccgtgtfs		cleavage and polyadenylation specific factor 7, 59kDa																																				SO:0001589	frameshift_variant	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183884_61183885insG		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.658dupC	11.37:g.61183890_61183890dupG	ENSP00000378352:p.Ser220fs		Somatic				CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs	p.C263fs	NM_024811.3	NP_079087.3	WXS	Illumina GAIIx	Phase_I	Q8N684	CPSF7_HUMAN			6	866_867	-			220			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Frame_Shift_Ins	INS	ENST00000394888.4	37	c.786_787insC	CCDS44619.1																																																																																				0.594	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		8	550						8	550	---	---	---	---
RELA	5970	broad.mit.edu	37	11	65422045	65422046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:65422045_65422046insG	ENST00000406246.3	-	11	1720_1721	c.1459_1460insC	c.(1459-1461)cacfs	p.H487fs	RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Frame_Shift_Ins_p.H484fs	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	487					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II 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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CTCAGTTGTGTGGGGGGCCACA	0.624																																						ENST00000406246.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(1459-1461)cacfs		v-rel avian reticuloendotheliosis viral oncogene homolog A																																				SO:0001589	frameshift_variant	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65422045_65422046insG	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1460dupC	11.37:g.65422051_65422051dupG	ENSP00000384273:p.His487fs		Somatic				RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Frame_Shift_Ins_p.H484fs	p.H487fs	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	WXS	Illumina GAIIx	Phase_I	Q04206	TF65_HUMAN			11	1720_1721	-			487					Q6GTV1|Q6SLK1	Frame_Shift_Ins	INS	ENST00000406246.3	37	c.1459_1460insC	CCDS31609.1																																																																																				0.624	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		7	182						7	182	---	---	---	---
RAB1B	81876	broad.mit.edu	37	11	66039887	66039888	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:66039887_66039888insG	ENST00000311481.6	+	4	382_383	c.235_236insG	c.(235-237)cggfs	p.R79fs	RAB1B_ENST00000527397.1_Intron|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	79	Switch 2 region; required for interaction with REP1/CHM.				ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CAGCTACTACCGGGGGGCTCAT	0.579																																						ENST00000311481.6																			0				large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						c.(235-237)gggfs		RAB1B, member RAS oncogene family																																				SO:0001589	frameshift_variant	81876				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding	g.chr11:66039887_66039888insG	AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.241dupG	11.37:g.66039893_66039893dupG	ENSP00000310226:p.Arg79fs		Somatic				RAB1B_ENST00000527397.1_Intron|RP11-867G23.3_ENST00000501708.1_lincRNA	p.G79fs	NM_030981.2	NP_112243.1	WXS	Illumina GAIIx	Phase_I	Q9H0U4	RAB1B_HUMAN			4	382_383	+			79			Switch 2 region; required for interaction with REP1/CHM.		A8K7S1	Frame_Shift_Ins	INS	ENST00000311481.6	37	c.235_236insG	CCDS31613.1																																																																																				0.579	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391886.2	NM_030981		7	299						7	299	---	---	---	---
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:66366957_66366958insG	ENST00000533244.1	+	4	719_720	c.278_279insG	c.(277-282)ctggggfs	p.LG93fs	CCS_ENST00000310190.4_Frame_Shift_Ins_p.LG74fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	93	Superoxide dismutase-like.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GTGGCCATCCTGGGGGGGCCTG	0.644																																						ENST00000533244.1																			0				breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(277-279)cggfs		copper chaperone for superoxide dismutase																																				SO:0001589	frameshift_variant	9973				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding	g.chr11:66366957_66366958insG	AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.285dupG	11.37:g.66366964_66366964dupG	ENSP00000436318:p.Leu93fs		Somatic				CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs	p.R93fs	NM_005125.1	NP_005116.1	WXS	Illumina GAIIx	Phase_I	O14618	CCS_HUMAN			4	719_720	+			93			Superoxide dismutase-like.		Q2M366|Q8NEV0	Frame_Shift_Ins	INS	ENST00000533244.1	37	c.278_279insG	CCDS8146.1																																																																																				0.644	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125		7	125						7	125	---	---	---	---
KRTAP5-10	387273	broad.mit.edu	37	11	71279907	71279936	+	IGR	DEL	AGTCCAGCTGCTGCAGGTCCTGCTGCTCCA	AGTCCAGCTGCTGCAGGTCCTGCTGCTCCA	-	rs114510875|rs72475645|rs111350381|rs111351399		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:71279907_71279936delAGTCCAGCTGCTGCAGGTCCTGCTGCTCCA	ENST00000398531.1	+	0	1058				KRTAP5-10_ENST00000376536.4_Splice_Site_p.VQLLQVLLLQ148del	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10							keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						tgctgctcccagtccagctgctgcaggtcctgctgctccaagtccagctg	0.57																																						ENST00000376536.4																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.e3-1		keratin associated protein 5-10																																				SO:0001628	intergenic_variant	387273					keratin filament		g.chr11:71279907_71279936delAGTCCAGCTGCTGCAGGTCCTGCTGCTCCA	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585		11.37:g.71279907_71279936delAGTCCAGCTGCTGCAGGTCCTGCTGCTCCA			Somatic					p.P147_splice			WXS	Illumina GAIIx	Phase_I	Q6L8G5	KR510_HUMAN			3	441_469	+			195			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Splice_Site	DEL	ENST00000398531.1	37	c.441_splice	CCDS41684.1																																																																																				0.570	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			7	137						7	137	---	---	---	---
ARRB1	408	broad.mit.edu	37	11	74988494	74988495	+	Splice_Site	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:74988494_74988495insG	ENST00000420843.2	-	9	716		c.e9-2		ARRB1_ENST00000360025.3_Splice_Site|ARRB1_ENST00000393505.4_Splice_Site	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1						activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GTAATAGATCTGGGGGGCATAA	0.55																																						ENST00000420843.2																			0				breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						c.e9-2		arrestin, beta 1																																				SO:0001630	splice_region_variant	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74988494_74988495insG	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.619-2->C	11.37:g.74988500_74988500dupG			Somatic				ARRB1_ENST00000360025.3_Splice_Site|ARRB1_ENST00000393505.4_Splice_Site		NM_004041.4	NP_004032.2	WXS	Illumina GAIIx	Phase_I	P49407	ARRB1_HUMAN			9	716	-								B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Splice_Site	INS	ENST00000420843.2	37		CCDS44684.1																																																																																				0.550	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041	Intron	9	448						9	448	---	---	---	---
CLDN25	644672	broad.mit.edu	37	11	113650550	113650551	+	Frame_Shift_Ins	INS	-	-	G	rs367566026		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:113650550_113650551insG	ENST00000453129.2	+	1	82_83	c.33_34insG	c.(34-36)gggfs	p.G12fs		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.L14fs*24(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						AAGTCCAGCTCGGGGGGCTACT	0.55																																						ENST00000453129.2																			1	Insertion - Frameshift(1)	p.L14fs*24(1)	ovary(1)	large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						c.(31-36)ctggggfs		claudin 25																																				SO:0001589	frameshift_variant	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113650550_113650551insG		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.39dupG	11.37:g.113650556_113650556dupG	ENSP00000396304:p.Gly12fs		Somatic					p.LG11fs	NM_001101389.1	NP_001094859.1	WXS	Illumina GAIIx	Phase_I	C9JDP6	CLD25_HUMAN			1	82_83	+			11						Frame_Shift_Ins	INS	ENST00000453129.2	37	c.33_34insG	CCDS44736.1																																																																																				0.550	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389		7	191						7	191	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116733010	116733011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:116733010_116733011insC	ENST00000292055.4	-	16	1853_1854	c.1818_1819insG	c.(1816-1821)gggcagfs	p.Q607fs	SIK3_ENST00000375300.1_Frame_Shift_Ins_p.Q665fs|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.G38fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.Q607fs|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.Q665fs|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.Q506fs	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	607	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATCAATCTGCCCCCCGTACA	0.5																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(1990-1995)ggagatfs		SIK family kinase 3																																				SO:0001589	frameshift_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116733010_116733011insC	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.1819dupG	11.37:g.116733016_116733016dupC	ENSP00000292055:p.Gln607fs		Somatic				SIK3_ENST00000446921.2_Frame_Shift_Ins_p.D665fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.D506fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.E38fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.D607fs	p.D665fs			WXS	Illumina GAIIx	Phase_I	Q9Y2K2	SIK3_HUMAN			16	1997_1998	-			607			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Frame_Shift_Ins	INS	ENST00000292055.4	37	c.1992_1993insG	CCDS8379.1																																																																																				0.500	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		13	492						13	492	---	---	---	---
NLRX1	79671	broad.mit.edu	37	11	119050610	119050611	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:119050610_119050611insG	ENST00000409109.1	+	7	2467_2468	c.1880_1881insG	c.(1879-1884)atggggfs	p.MG627fs	NLRX1_ENST00000409265.4_Frame_Shift_Ins_p.MG627fs|NLRX1_ENST00000409991.1_Frame_Shift_Ins_p.MG627fs|NLRX1_ENST00000292199.2_Frame_Shift_Ins_p.MG627fs|NLRX1_ENST00000525863.1_Frame_Shift_Ins_p.MG627fs	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	627	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCATGTTCATGGGGGGGCTTC	0.624																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1879-1881)aggfs		NLR family member X1																																				SO:0001589	frameshift_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119050610_119050611insG	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1887dupG	11.37:g.119050617_119050617dupG	ENSP00000387334:p.Met627fs		Somatic				NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000409991.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000409265.4_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000525863.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000292199.2_Frame_Shift_Ins_p.R627fs	p.R627fs			WXS	Illumina GAIIx	Phase_I	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	7	2467_2468	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	627			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Frame_Shift_Ins	INS	ENST00000409109.1	37	c.1880_1881insG	CCDS8416.1																																																																																				0.624	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		7	94						7	94	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)gccfs	p.A23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.A23T(1)	endometrium(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(67-69)cccfs		olfactory receptor, family 10, subfamily G, member 8																																				SO:0001589	frameshift_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900396_123900397insC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.73dupC	11.37:g.123900402_123900402dupC	ENSP00000389072:p.Ala23fs		Somatic					p.P23fs	NM_001004464.1	NP_001004464.1	WXS	Illumina GAIIx	Phase_I	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	100_101	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	23					B2RNJ3|Q6IEV2	Frame_Shift_Ins	INS	ENST00000431524.1	37	c.67_68insC	CCDS31704.1																																																																																				0.589	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		7	1012						7	1012	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G	rs567657119		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)cagfs	p.Q147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.Q147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(439-441)gtafs		immunoglobulin superfamily, member 9B																																				SO:0001589	frameshift_variant	22997					integral to membrane|plasma membrane		g.chr11:133807826_133807827insG	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.440dupC	11.37:g.133807833_133807833dupG	ENSP00000317980:p.Gln147fs		Somatic				IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs	p.V147fs			WXS	Illumina GAIIx	Phase_I	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	4	669_670	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	147			Ig-like 2.		G5EA26	Frame_Shift_Ins	INS	ENST00000321016.8	37	c.439_440insC																																																																																					0.574	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		12	129						12	129	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)cagfs	p.Q909fs	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525																																						ENST00000534548.2																			1	Insertion - Frameshift(1)	p.Q909fs*12(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2725-2727)ggtfs		non-SMC condensin II complex, subunit D3																																				SO:0001589	frameshift_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134048585_134048586insG	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2726dupC	11.37:g.134048592_134048592dupG	ENSP00000433681:p.Gln909fs		Somatic					p.G909fs	NM_015261.2	NP_056076.1	WXS	Illumina GAIIx	Phase_I	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	22	2789_2790	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	909					A6NFS2|Q4KMQ9	Frame_Shift_Ins	INS	ENST00000534548.2	37	c.2725_2726insC	CCDS31723.1																																																																																				0.525	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		9	204						9	204	---	---	---	---
AKAP3	10566	broad.mit.edu	37	12	4736153	4736154	+	Frame_Shift_Ins	INS	-	-	G	rs374413843		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:4736153_4736154insG	ENST00000545990.2	-	5	2438_2439	c.1914_1915insC	c.(1912-1917)cccaggfs	p.R639fs	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Frame_Shift_Ins_p.R639fs	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	639					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCATATAGCCTGGGGGGAGAAG	0.54																																						ENST00000545990.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						c.(1912-1917)ccggctfs		A kinase (PRKA) anchor protein 3																																				SO:0001589	frameshift_variant	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4736153_4736154insG	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1915dupC	12.37:g.4736159_4736159dupG	ENSP00000440994:p.Arg639fs		Somatic				AKAP3_ENST00000228850.1_Frame_Shift_Ins_p.A639fs	p.A639fs	NM_001278309.1	NP_001265238.1	WXS	Illumina GAIIx	Phase_I	O75969	AKAP3_HUMAN			5	2438_2439	-			639					O75945|Q86X01|Q9UM61	Frame_Shift_Ins	INS	ENST00000545990.2	37	c.1914_1915insC	CCDS8531.1																																																																																				0.540	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		7	245						7	245	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6091108	6091109	+	Frame_Shift_Ins	INS	-	-	G	rs368646629|rs267607359|rs267607360		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:6091108_6091109insG	ENST00000261405.5	-	42	7384_7385	c.7130_7131insC	c.(7129-7131)ccgfs	p.P2377fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2377					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.P2377P(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAAACGGTGCGGGGGGCAGGA	0.604																																						ENST00000261405.5																			1	Substitution - coding silent(1)	p.P2377P(1)	kidney(1)	NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CI983256	VWF	I	rs61750632	c.(7129-7131)ccafs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6091108_6091109insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7131dupC	12.37:g.6091114_6091114dupG	ENSP00000261405:p.Pro2377fs		Somatic					p.P2377fs	NM_000552.3	NP_000543.2	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			42	7384_7385	-			2377					Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.7130_7131insC	CCDS8539.1																																																																																				0.604	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		7	339						7	339	---	---	---	---
CD4	920	broad.mit.edu	37	12	6923985	6923986	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:6923985_6923986insC	ENST00000011653.4	+	5	692_693	c.434_435insC	c.(433-438)agccccfs	p.SP145fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.SP90fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	145	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	ACCTTGGAGAGCCCCCCTGGTA	0.579																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(433-435)accfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6923985_6923986insC	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.440dupC	12.37:g.6923991_6923991dupC	ENSP00000011653:p.Ser145fs		Somatic				CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.T90fs	p.T145fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	WXS	Illumina GAIIx	Phase_I	P01730	CD4_HUMAN			5	692_693	+		Myeloproliferative disorder(1001;0.0122)	145			Ig-like C2-type 1.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.434_435insC	CCDS8562.1																																																																																				0.579	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		9	1310						9	1310	---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7045699	7045700	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:7045699_7045700insC	ENST00000356654.4	+	5	1506_1507	c.1269_1270insC	c.(1270-1272)cccfs	p.P424fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.P424fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	424					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TCTCCAATCAGCCCCCCAAGTA	0.614																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1267-1272)caccccfs		atrophin 1																																				SO:0001589	frameshift_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045699_7045700insC	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1275dupC	12.37:g.7045705_7045705dupC	ENSP00000349076:p.Pro424fs		Somatic				ATN1_ENST00000396684.2_Frame_Shift_Ins_p.HP423fs	p.HP423fs	NM_001007026.1	NP_001007027.1	WXS	Illumina GAIIx	Phase_I	P54259	ATN1_HUMAN			5	1506_1507	+			423					Q99495|Q99621|Q9UEK7	Frame_Shift_Ins	INS	ENST00000356654.4	37	c.1269_1270insC	CCDS31734.1																																																																																				0.614	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		7	282						7	282	---	---	---	---
PRB1	5542	broad.mit.edu	37	12	11506884	11506885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:11506884_11506885insG	ENST00000500254.2	-	3	189_190	c.152_153insC	c.(151-153)ccafs	p.P51fs	PRB1_ENST00000546254.1_Frame_Shift_Ins_p.P51fs|PRB1_ENST00000545626.1_Frame_Shift_Ins_p.P51fs	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGAGGAGGTGGGGGGCCCTG	0.579																																						ENST00000500254.2																			0				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(151-153)cccfs		proline-rich protein BstNI subfamily 1																																				SO:0001589	frameshift_variant	5542					extracellular region		g.chr12:11506884_11506885insG		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.153dupC	12.37:g.11506890_11506890dupG	ENSP00000420826:p.Pro51fs		Somatic				PRB1_ENST00000545626.1_Frame_Shift_Ins_p.P51fs|PRB1_ENST00000546254.1_Frame_Shift_Ins_p.P51fs	p.P51fs	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	WXS	Illumina GAIIx	Phase_I	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	189_190	-			234					Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Frame_Shift_Ins	INS	ENST00000500254.2	37	c.152_153insC	CCDS8642.1																																																																																				0.579	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		9	1000						9	1000	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206|rs398122823		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:14019043_14019044insG	ENST00000609686.1	-	2	308_309	c.99_100insC	c.(97-102)cccagcfs	p.S34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGCCAATGCTGGGGGGGCTCT	0.589																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(97-102)ccgcatfs		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)																																			SO:0001589	frameshift_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14019043_14019044insG		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.100dupC	12.37:g.14019050_14019050dupG	ENSP00000477455:p.Ser34fs		Somatic					p.H34fs	NM_000834.3	NP_000825.2	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			2	308_309	-			34					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Frame_Shift_Ins	INS	ENST00000609686.1	37	c.99_100insC	CCDS8662.1																																																																																				0.589	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			10	217						10	217	---	---	---	---
DNM1L	10059	broad.mit.edu	37	12	32863894	32863894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:32863894delT	ENST00000549701.1	+	5	475	c.401delT	c.(400-402)attfs	p.I134fs	DNM1L_ENST00000547312.1_Frame_Shift_Del_p.I134fs|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000553257.1_Frame_Shift_Del_p.I147fs|DNM1L_ENST00000358214.5_Frame_Shift_Del_p.I147fs|DNM1L_ENST00000452533.2_Frame_Shift_Del_p.I134fs|DNM1L_ENST00000381000.4_Frame_Shift_Del_p.I147fs|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000266481.6_Frame_Shift_Del_p.I134fs			O00429	DNM1L_HUMAN	dynamin 1-like	134	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CATCTTAAGATTTTTTCACCC	0.318																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(400-402)atfs		dynamin 1-like							108.0	101.0	103.0					12																	32863894		2203	4300	6503	SO:0001589	frameshift_variant	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32863894delT	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.401delT	12.37:g.32863894delT	ENSP00000450399:p.Ile134fs		Somatic				DNM1L_ENST00000549701.1_Frame_Shift_Del_p.I134fs|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000266481.6_Frame_Shift_Del_p.I134fs|DNM1L_ENST00000553257.1_Frame_Shift_Del_p.I147fs|DNM1L_ENST00000547312.1_Frame_Shift_Del_p.I134fs|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000358214.5_Frame_Shift_Del_p.I147fs|DNM1L_ENST00000381000.4_Frame_Shift_Del_p.I147fs	p.I134fs	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	WXS	Illumina GAIIx	Phase_I	O00429	DNM1L_HUMAN			5	565	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		134			GTPase domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Frame_Shift_Del	DEL	ENST00000549701.1	37	c.401delT	CCDS8729.1																																																																																				0.318	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		91	121						91	121	---	---	---	---
PFKM	5213	broad.mit.edu	37	12	48537576	48537576	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:48537576delT	ENST00000312352.7	+	19	1898	c.1859delT	c.(1858-1860)gtgfs	p.V620fs	PFKM_ENST00000395233.2_Frame_Shift_Del_p.V589fs|PFKM_ENST00000359794.5_Frame_Shift_Del_p.V620fs|PFKM_ENST00000547587.1_Frame_Shift_Del_p.V620fs|PFKM_ENST00000551804.1_Frame_Shift_Del_p.V589fs|PFKM_ENST00000340802.6_Frame_Shift_Del_p.V691fs	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	620	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AAAACAACTGTGAAAAGGGGC	0.393																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2071-2073)ggfs		phosphofructokinase, muscle							165.0	153.0	157.0					12																	48537576		2203	4300	6503	SO:0001589	frameshift_variant	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48537576delT	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1859delT	12.37:g.48537576delT	ENSP00000309438:p.Val620fs		Somatic				PFKM_ENST00000551804.1_Frame_Shift_Del_p.V589fs|PFKM_ENST00000547587.1_Frame_Shift_Del_p.V620fs|PFKM_ENST00000312352.7_Frame_Shift_Del_p.V620fs|PFKM_ENST00000395233.2_Frame_Shift_Del_p.V589fs|PFKM_ENST00000359794.5_Frame_Shift_Del_p.V620fs	p.V691fs	NM_001166686.1	NP_001160158.1	WXS	Illumina GAIIx	Phase_I	P08237	K6PF_HUMAN			21	2296	+			620					J3KNX3|Q16814|Q16815|Q6ZTT1	Frame_Shift_Del	DEL	ENST00000312352.7	37	c.2072delT	CCDS8760.1																																																																																				0.393	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		7	444						7	444	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G	rs200088180		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)ccafs	p.P647fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATACCTCAGGTGGGGGGGACAT	0.634																																						ENST00000301067.7																			0											c.(1939-1941)cccfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49445525_49445526insG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1941dupC	12.37:g.49445532_49445532dupG	ENSP00000301067:p.Pro647fs		Somatic					p.P647fs	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					10	1939_1940	-								O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.1940_1941insC	CCDS44873.1																																																																																				0.634	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			14	311						14	311	---	---	---	---
KRT5	3852	broad.mit.edu	37	12	52910538	52910539	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:52910538_52910539delTT	ENST00000252242.4	-	7	1711_1712	c.1321_1322delAA	c.(1321-1323)aagfs	p.K441fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	441	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGCTTGGCCTTCTGCAGGGCC	0.639																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(1321-1323)gfs		keratin 5																																				SO:0001589	frameshift_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52910538_52910539delTT		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1321_1322delAA	12.37:g.52910538_52910539delTT	ENSP00000252242:p.Lys441fs		Somatic					p.K441fs	NM_000424.3	NP_000415.2	WXS	Illumina GAIIx	Phase_I	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1711_1712	-			441			Coil 2.|Rod.		Q6PI71|Q6UBJ0|Q8TA91	Frame_Shift_Del	DEL	ENST00000252242.4	37	c.1321_1322delAA	CCDS8830.1																																																																																				0.639	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			29	727						29	727	---	---	---	---
KRT79	338785	broad.mit.edu	37	12	53215777	53215778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:53215777_53215778insC	ENST00000330553.5	-	9	1520_1521	c.1486_1487insG	c.(1486-1488)gccfs	p.A496fs		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	496	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCCTTGGTGGCCCCCCCACTC	0.619																																						ENST00000330553.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1486-1488)cacfs		keratin 79																																				SO:0001589	frameshift_variant	338785					keratin filament	structural molecule activity	g.chr12:53215777_53215778insC	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1487dupG	12.37:g.53215784_53215784dupC	ENSP00000328358:p.Ala496fs		Somatic					p.H496fs	NM_175834.2	NP_787028.1	WXS	Illumina GAIIx	Phase_I	Q5XKE5	K2C79_HUMAN			9	1520_1521	-			496			Tail.		Q6P465|Q7Z793	Frame_Shift_Ins	INS	ENST00000330553.5	37	c.1486_1487insG	CCDS8839.1																																																																																				0.619	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		8	135						8	135	---	---	---	---
AAAS	8086	broad.mit.edu	37	12	53715141	53715142	+	Frame_Shift_Ins	INS	-	-	G	rs138043864		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:53715141_53715142insG	ENST00000209873.4	-	1	273_274	c.108_109insC	c.(106-111)cccgacfs	p.D37fs	AAAS_ENST00000394384.3_Frame_Shift_Ins_p.D37fs|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000549983.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	37					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCCCGGAAGTCGGGGGGCGGGC	0.653																																						ENST00000209873.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(106-111)ccacttfs		achalasia, adrenocortical insufficiency, alacrimia																																				SO:0001589	frameshift_variant	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53715141_53715142insG	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.109dupC	12.37:g.53715147_53715147dupG	ENSP00000209873:p.Asp37fs		Somatic				AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_Frame_Shift_Ins_p.L37fs|AAAS_ENST00000549983.1_Intron	p.L37fs	NM_015665.5	NP_056480.1	WXS	Illumina GAIIx	Phase_I	Q9NRG9	AAAS_HUMAN			1	273_274	-			37					Q5JB47|Q9NWI6|Q9UG19	Frame_Shift_Ins	INS	ENST00000209873.4	37	c.108_109insC	CCDS8856.1																																																																																				0.653	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			7	249						7	249	---	---	---	---
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:53856277_53856278insC	ENST00000439930.3	+	7	539_540	c.517_518insC	c.(517-519)tccfs	p.S173fs	PCBP2_ENST00000552296.2_Splice_Site_p.S169fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000541275.1_Splice_Site_p.S169fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000546463.1_Splice_Site_p.S169fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000437231.1_Splice_Site_p.S169fs|PCBP2_ENST00000359282.5_Splice_Site_p.S169fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000455667.3_Splice_Site_p.S169fs|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000603815.1_Frame_Shift_Ins_p.S173fs			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	173					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAAG	0.5																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(517-519)cccfs		poly(rC) binding protein 2																																				SO:0001589	frameshift_variant	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53856277_53856278insC	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.524dupC	12.37:g.53856284_53856284dupC	ENSP00000408949:p.Ser173fs		Somatic				RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs	p.P173fs	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	WXS	Illumina GAIIx	Phase_I	Q15366	PCBP2_HUMAN			8	867_868	+			173					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Frame_Shift_Ins	INS	ENST00000439930.3	37	c.517_518insC	CCDS44901.1																																																																																				0.500	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		12	220						12	220	---	---	---	---
NPFF	8620	broad.mit.edu	37	12	53898183	53898184	+	IGR	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:53898183_53898184insC	ENST00000267017.3	-	0	592				TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.SP51fs|TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.SP121fs|TARBP2_ENST00000266987.2_Frame_Shift_Ins_p.SP142fs|TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.SP121fs	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						TCCTTCAGGAGCCCCCCCATGG	0.564																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(424-426)accfs		TAR (HIV-1) RNA binding protein 2																																				SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53898183_53898184insC	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53898190_53898190dupC			Somatic				TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.T121fs|TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.T121fs|TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.T51fs	p.T142fs	NM_134323.1	NP_599150.1	WXS	Illumina GAIIx	Phase_I	Q15633	TRBP2_HUMAN			5	908_909	+			142					Q3SXL4	Frame_Shift_Ins	INS	ENST00000267017.3	37	c.425_426insC	CCDS8862.1																																																																																				0.564	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		9	169						9	169	---	---	---	---
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C	rs201995432		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)accfs	p.T302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465																																						ENST00000242994.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(904-906)cccfs		neuronal differentiation 4																																				SO:0001589	frameshift_variant	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55421127_55421128insC	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.910dupC	12.37:g.55421133_55421133dupC	ENSP00000242994:p.Thr302fs		Somatic					p.P302fs	NM_021191.2	NP_067014.2	WXS	Illumina GAIIx	Phase_I	Q9HD90	NDF4_HUMAN			2	1282_1283	+			302					B2RAC9	Frame_Shift_Ins	INS	ENST00000242994.3	37	c.904_905insC	CCDS8886.1																																																																																				0.465	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			11	2910						11	2910	---	---	---	---
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2170-2172)cccfs	p.P724fs	DGKA_ENST00000551156.1_Frame_Shift_Ins_p.P724fs|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.P724fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	724					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(2167-2172)ccccccfs		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)																																			SO:0001589	frameshift_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56347513_56347514insC	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2176dupC	12.37:g.56347520_56347520dupC	ENSP00000328405:p.Pro724fs		Somatic				DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs	p.PP723fs	NM_001345.4	NP_001336.2	WXS	Illumina GAIIx	Phase_I	P23743	DGKA_HUMAN			24	2623_2624	+			723					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Frame_Shift_Ins	INS	ENST00000331886.5	37	c.2169_2170insC	CCDS8896.1																																																																																				0.579	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			14	256						14	256	---	---	---	---
ERBB3	2065	broad.mit.edu	37	12	56490961	56490962	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:56490961_56490962insG	ENST00000267101.3	+	20	2847_2848	c.2407_2408insG	c.(2407-2409)cggfs	p.R803fs	ERBB3_ENST00000415288.2_Frame_Shift_Ins_p.R744fs|ERBB3_ENST00000450146.2_Frame_Shift_Ins_p.R160fs|ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000553131.1_Frame_Shift_Ins_p.R44fs	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	803	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GAGACAACACCGGGGGGCACTG	0.54																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(2407-2409)gggfs		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3																																				SO:0001589	frameshift_variant	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56490961_56490962insG	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2413dupG	12.37:g.56490967_56490967dupG	ENSP00000267101:p.Arg803fs		Somatic				ERBB3_ENST00000553131.1_Frame_Shift_Ins_p.G44fs|ERBB3_ENST00000450146.2_Frame_Shift_Ins_p.G160fs|ERBB3_ENST00000415288.2_Frame_Shift_Ins_p.G744fs	p.G803fs	NM_001982.3	NP_001973.2	WXS	Illumina GAIIx	Phase_I	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		20	2847_2848	+			803			Protein kinase.		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Frame_Shift_Ins	INS	ENST00000267101.3	37	c.2407_2408insG	CCDS31833.1																																																																																				0.540	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			10	226						10	226	---	---	---	---
NACA	4666	broad.mit.edu	37	12	57114417	57114418	+	Frame_Shift_Ins	INS	-	-	G	rs192511809	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:57114417_57114418insG	ENST00000454682.1	-	3	1177_1178	c.896_897insC	c.(895-897)ccafs	p.P299fs	NACA_ENST00000550952.1_Frame_Shift_Ins_p.P299fs|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	299	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGAAAATCTGGGGGGGTGTT	0.49			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(895-897)cgafs		nascent polypeptide-associated complex alpha subunit																																				SO:0001589	frameshift_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57114417_57114418insG	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.897dupC	12.37:g.57114424_57114424dupG	ENSP00000403817:p.Pro299fs		Somatic				NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.R299fs|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron	p.R299fs	NM_001113203.2	NP_001106674.2	WXS	Illumina GAIIx	Phase_I	Q13765	NACA_HUMAN			3	1177_1178	-			0						Frame_Shift_Ins	INS	ENST00000454682.1	37	c.896_897insC																																																																																					0.490	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		9	77						9	77	---	---	---	---
STAT6	6778	broad.mit.edu	37	12	57499093	57499094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:57499093_57499094insG	ENST00000300134.3	-	9	1166_1167	c.841_842insC	c.(841-843)cagfs	p.Q281fs	STAT6_ENST00000543873.2_Frame_Shift_Ins_p.Q281fs|STAT6_ENST00000556155.1_Frame_Shift_Ins_p.Q281fs|STAT6_ENST00000537215.2_Frame_Shift_Ins_p.Q171fs|STAT6_ENST00000538913.2_Frame_Shift_Ins_p.Q171fs|STAT6_ENST00000454075.3_Frame_Shift_Ins_p.Q281fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	281					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTTCAGTACCTGGGGGGGCTGC	0.639																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(841-843)ggtfs		signal transducer and activator of transcription 6, interleukin-4 induced																																				SO:0001589	frameshift_variant	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57499093_57499094insG	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.842dupC	12.37:g.57499100_57499100dupG	ENSP00000300134:p.Gln281fs		Somatic				STAT6_ENST00000543873.2_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000538913.2_Frame_Shift_Ins_p.G171fs|STAT6_ENST00000537215.2_Frame_Shift_Ins_p.G171fs|STAT6_ENST00000454075.3_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000556155.1_Frame_Shift_Ins_p.G281fs	p.G281fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	WXS	Illumina GAIIx	Phase_I	P42226	STAT6_HUMAN			9	1166_1167	-			281					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Frame_Shift_Ins	INS	ENST00000300134.3	37	c.841_842insC	CCDS8931.1																																																																																				0.639	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		10	161						10	161	---	---	---	---
R3HDM2	22864	broad.mit.edu	37	12	57662753	57662754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:57662753_57662754insC	ENST00000347140.3	-	17	2174_2175	c.1784_1785insG	c.(1783-1785)ggcfs	p.G595fs	RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000546843.1_5'Flank|R3HDM2_ENST00000402412.1_Frame_Shift_Ins_p.G609fs|R3HDM2_ENST00000403821.2_Frame_Shift_Ins_p.G629fs|R3HDM2_ENST00000358907.2_Frame_Shift_Ins_p.G595fs|R3HDM2_ENST00000413953.2_Frame_Shift_Ins_p.G322fs|R3HDM2_ENST00000441731.2_Frame_Shift_Ins_p.G290fs			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	595	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTTGCATCTGGCCCCCCATGCT	0.579																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1825-1827)gcafs		R3H domain containing 2																																				SO:0001589	frameshift_variant	22864					nucleus	nucleic acid binding	g.chr12:57662753_57662754insC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1785dupG	12.37:g.57662759_57662759dupC	ENSP00000317903:p.Gly595fs		Somatic				R3HDM2_ENST00000441731.2_Frame_Shift_Ins_p.A290fs|R3HDM2_ENST00000403821.2_Frame_Shift_Ins_p.A629fs|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000413953.2_Frame_Shift_Ins_p.A322fs|R3HDM2_ENST00000358907.2_Frame_Shift_Ins_p.A595fs|R3HDM2_ENST00000347140.3_Frame_Shift_Ins_p.A595fs|R3HDM2_ENST00000393811.2_Frame_Shift_Ins_p.A322fs	p.A609fs			WXS	Illumina GAIIx	Phase_I	Q9Y2K5	R3HD2_HUMAN			17	2216_2217	-			595			Gln-rich.		Q2M1T9|Q3ZCT5	Frame_Shift_Ins	INS	ENST00000347140.3	37	c.1826_1827insG	CCDS8937.2																																																																																				0.579	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		9	624						9	624	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G	rs368789621		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)tggfs	p.W272fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.W144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.W231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(814-816)gggfs		GLI family zinc finger 1																																				SO:0001589	frameshift_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57860074_57860075insG		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.821dupG	12.37:g.57860081_57860081dupG	ENSP00000228682:p.Trp272fs		Somatic				GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs	p.G272fs	NM_005269.2	NP_005260.1	WXS	Illumina GAIIx	Phase_I	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		8	905_906	+			272					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Frame_Shift_Ins	INS	ENST00000228682.2	37	c.814_815insG	CCDS8940.1																																																																																				0.599	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		83	1078						83	1078	---	---	---	---
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)ccafs	p.P200fs	DCTN2_ENST00000551400.1_5'Flank|DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.P205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.P177fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.P205fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	200					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GGCTGCTATCTGGGGGGGTCCC	0.5																																						ENST00000548249.1																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						c.(598-600)cgafs		dynactin 2 (p50)																																				SO:0001589	frameshift_variant	10540				cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding	g.chr12:57927805_57927806insG	U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.600dupC	12.37:g.57927812_57927812dupG	ENSP00000447824:p.Pro200fs		Somatic				DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs	p.R200fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	WXS	Illumina GAIIx	Phase_I	Q13561	DCTN2_HUMAN			7	866_867	-			200					B2RBK5|Q86YN2|Q9BW17	Frame_Shift_Ins	INS	ENST00000548249.1	37	c.599_600insC	CCDS58245.1																																																																																				0.500	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400		7	168						7	168	---	---	---	---
CDK4	1019	broad.mit.edu	37	12	58143030	58143031	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:58143030_58143031insG	ENST00000257904.6	-	7	1118_1119	c.753_754insC	c.(751-756)cccagafs	p.R252fs	TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000540325.1_Frame_Shift_Ins_p.R132fs|CDK4_ENST00000312990.6_3'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	252	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CGGGGCCCTCTGGGGGGAAAGG	0.624			Mis			melanoma			Hereditary Melanoma																													ENST00000257904.6			yes	Dom		Familial malignant melanoma	12	12q14	1019	Mis	cyclin-dependent kinase 4			E		melanoma			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21						c.(751-756)ccgaggfs		cyclin-dependent kinase 4																																				SO:0001589	frameshift_variant	1019	Hereditary Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr12:58143030_58143031insG	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.754dupC	12.37:g.58143036_58143036dupG	ENSP00000257904:p.Arg252fs		Somatic				CDK4_ENST00000540325.1_Frame_Shift_Ins_p.R132fs|CDK4_ENST00000312990.6_3'UTR|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000551888.1_5'UTR	p.R252fs	NM_000075.3	NP_000066.1	WXS	Illumina GAIIx	Phase_I	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		7	1118_1119	-	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		252			Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Frame_Shift_Ins	INS	ENST00000257904.6	37	c.753_754insC	CCDS8953.1																																																																																				0.624	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		8	229						8	229	---	---	---	---
METTL21B	25895	broad.mit.edu	37	12	58174036	58174037	+	Splice_Site	INS	-	-	G	rs143311691|rs374056986	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:58174036_58174037insG	ENST00000300209.8	+	3	414		c.e3-1		TSFM_ENST00000454289.3_5'Flank|METTL21B_ENST00000333012.5_Splice_Site|METTL21B_ENST00000548256.1_Splice_Site|RP11-571M6.15_ENST00000553083.1_Intron|TSFM_ENST00000540550.1_5'Flank|TSFM_ENST00000323833.8_5'Flank|TSFM_ENST00000550559.1_5'Flank|TSFM_ENST00000350762.5_5'Flank|TSFM_ENST00000548851.1_5'Flank|RP11-571M6.15_ENST00000471530.1_Intron|TSFM_ENST00000543727.1_5'Flank|METTL21B_ENST00000551420.1_Splice_Site	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						CCTCTCTCTCAGGGGGGGATGT	0.584																																						ENST00000333012.5																			0				endometrium(1)|lung(1)	2						c.e4-1		methyltransferase like 21B																																				SO:0001630	splice_region_variant	25895					integral to membrane|intracellular	methyltransferase activity	g.chr12:58174036_58174037insG	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459	ENST00000300209.8:c.290-1->G	12.37:g.58174043_58174043dupG			Somatic				METTL21B_ENST00000300209.8_Splice_Site|RP11-571M6.15_ENST00000471530.1_Intron|METTL21B_ENST00000548256.1_Splice_Site|METTL21B_ENST00000551420.1_Splice_Site|RP11-571M6.15_ENST00000553083.1_Intron		NM_206914.1	NP_996797.1	WXS	Illumina GAIIx	Phase_I	Q96AZ1	MT21B_HUMAN			4	475	+								Q9H749|Q9Y3W2	Splice_Site	INS	ENST00000300209.8	37		CCDS8957.1																																																																																				0.584	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433	Intron	12	447						12	447	---	---	---	---
CAND1	55832	broad.mit.edu	37	12	67699691	67699692	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:67699691_67699692insG	ENST00000545606.1	+	10	2680_2681	c.2243_2244insG	c.(2242-2247)caggggfs	p.QG748fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	748					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CCCTTATTGCAGGGGGGAGCTC	0.426																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(2242-2244)cggfs		cullin-associated and neddylation-dissociated 1																																				SO:0001589	frameshift_variant	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67699691_67699692insG		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2249dupG	12.37:g.67699697_67699697dupG	ENSP00000442318:p.Gln748fs		Somatic					p.R748fs	NM_018448.3	NP_060918.2	WXS	Illumina GAIIx	Phase_I	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	2680_2681	+			748					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Frame_Shift_Ins	INS	ENST00000545606.1	37	c.2243_2244insG	CCDS8977.1																																																																																				0.426	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		7	308						7	308	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1197)cgccccfs	p.RP398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.RP398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1192-1194)cccfs		neuron navigator 3				2,3746		0,2,1872						4.8	1.0			90	1,7917		0,1,3958	no	frameshift	NAV3	NM_014903.4		0,3,5830	A1A1,A1R,RR		0.0126,0.0534,0.0257				3,11663				SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400511_78400512insC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1199dupC	12.37:g.78400517_78400517dupC	ENSP00000381007:p.Arg398fs	HNSCC(70;0.22)	Somatic				NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs	p.P398fs			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			8	1366_1367	+			398					Q8NFW7|Q9Y2E7	Frame_Shift_Ins	INS	ENST00000397909.2	37	c.1193_1194insC																																																																																					0.495	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		12	336						12	336	---	---	---	---
LOC105369984	105369984	broad.mit.edu	37	12	111821822	111821823	+	lincRNA	INS	-	-	A	rs113919722		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:111821822_111821823insA	ENST00000552663.1	+	0	141																											gactccgtctcaaaaaaaaaaa	0.505																																						ENST00000552663.1																			0																																																			642580							g.chr12:111821822_111821823insA																													12.37:g.111821833_111821833dupA			Somatic								WXS	Illumina GAIIx	Phase_I					0	141	+									RNA	INS	ENST00000552663.1	37																																																																																						0.505	RP3-473L9.4-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000404776.1			2	4						2	4	---	---	---	---
BRAP	8315	broad.mit.edu	37	12	112082051	112082052	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:112082051_112082052insC	ENST00000327551.6	-	12	1780_1781	c.1640_1641insG	c.(1639-1641)ggcfs	p.G547fs	BRAP_ENST00000419234.4_Frame_Shift_Ins_p.G577fs|BRAP_ENST00000539060.1_Frame_Shift_Ins_p.G398fs			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ACTTCCCACTGCCCCCCGAAGA	0.604																																					Pancreas(146;846 1904 7830 25130 26065)	ENST00000419234.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(1729-1731)gagfs		BRCA1 associated protein																																				SO:0001589	frameshift_variant	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112082051_112082052insC	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.1641dupG	12.37:g.112082057_112082057dupC	ENSP00000330813:p.Gly547fs		Somatic				BRAP_ENST00000327551.6_Frame_Shift_Ins_p.E547fs|BRAP_ENST00000539060.1_Frame_Shift_Ins_p.E398fs	p.E577fs	NM_006768.3	NP_006759.3	WXS	Illumina GAIIx	Phase_I	Q7Z569	BRAP_HUMAN			12	1923_1924	-			577					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Frame_Shift_Ins	INS	ENST00000327551.6	37	c.1730_1731insG																																																																																					0.604	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2			8	208						8	208	---	---	---	---
ACAD10	80724	broad.mit.edu	37	12	112130538	112130539	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:112130538_112130539insC	ENST00000313698.4	+	2	180_181	c.25_26insC	c.(25-27)tccfs	p.S9fs	ACAD10_ENST00000549590.1_Frame_Shift_Ins_p.S9fs|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000455480.2_Frame_Shift_Ins_p.S9fs	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	9						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.S9F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTGTTTCCAGTCCCCCCGTCTC	0.619																																						ENST00000455480.2																			1	Substitution - Missense(1)	p.S9F(1)	skin(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(25-27)cccfs		acyl-CoA dehydrogenase family, member 10																																				SO:0001589	frameshift_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112130538_112130539insC	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.31dupC	12.37:g.112130544_112130544dupC	ENSP00000325137:p.Ser9fs		Somatic				ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000549590.1_Frame_Shift_Ins_p.P9fs|ACAD10_ENST00000313698.4_Frame_Shift_Ins_p.P9fs	p.P9fs	NM_001136538.1	NP_001130010.1	WXS	Illumina GAIIx	Phase_I	Q6JQN1	ACD10_HUMAN			2	202_203	+			9					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Frame_Shift_Ins	INS	ENST00000313698.4	37	c.25_26insC	CCDS31903.1																																																																																				0.619	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		11	647						11	647	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:112600859_112600860insG	ENST00000430131.2	-	74	12985_12986	c.11840_11841insC	c.(11839-11841)ccafs	p.P3947fs	HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.P4223fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P4197fs|HECTD4_ENST00000549141.1_5'Flank			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3947	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTGTGCCATCTGGGGGGGCGAT	0.629																																						ENST00000550722.1																			0											c.(12667-12669)cgafs		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	283450							g.chr12:112600859_112600860insG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11841dupC	12.37:g.112600866_112600866dupG	ENSP00000404379:p.Pro3947fs		Somatic				HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs	p.R4223fs	NM_001109662.3	NP_001103132.3	WXS	Illumina GAIIx	Phase_I					75	13063_13064	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37	c.12668_12669insC																																																																																					0.629	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		18	311						18	311	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112690348	112690349	+	Frame_Shift_Ins	INS	-	-	G	rs528866197	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:112690348_112690349insG	ENST00000430131.2	-	22	3310_3311	c.2165_2166insC	c.(2164-2166)cctfs	p.P722fs	HECTD4_ENST00000550722.1_Intron|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P972fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	722					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AATTTAAGGAAGGGGGGGAAAT	0.396													?|GGGGGGG|GGGGGGGG|unsure	10	0.00199681	0.0076	0.0	5008	,	,		19795	0.0		0.0	False		,,,				2504	0.0					ENST00000430131.2																			0											c.(2164-2166)ctcfs		HECT domain containing E3 ubiquitin protein ligase 4				25,4239		0,25,2107						3.9	0.9			67	4,8250		0,4,4123	no	frameshift	C12orf51	NM_001109662.2		0,29,6230	A1A1,A1R,RR		0.0485,0.5863,0.2317				29,12489				SO:0001589	frameshift_variant	283450							g.chr12:112690348_112690349insG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2166dupC	12.37:g.112690355_112690355dupG	ENSP00000404379:p.Pro722fs		Somatic				HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.L972fs|HECTD4_ENST00000550722.1_Intron	p.L722fs			WXS	Illumina GAIIx	Phase_I					22	3310_3311	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37	c.2165_2166insC																																																																																					0.396	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		7	169						7	169	---	---	---	---
RASAL1	8437	broad.mit.edu	37	12	113565942	113565943	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:113565942_113565943insC	ENST00000261729.5	-	4	478_479	c.163_164insG	c.(163-165)gagfs	p.E55fs	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Frame_Shift_Ins_p.E55fs|RASAL1_ENST00000446861.3_Frame_Shift_Ins_p.E55fs|RASAL1_ENST00000546530.1_Frame_Shift_Ins_p.E55fs			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	55	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CGTGTACTCCTCCCCCCAGAAG	0.614																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(163-165)ggafs		RAS protein activator like 1 (GAP1 like)																																				SO:0001589	frameshift_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113565942_113565943insC	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.164dupG	12.37:g.113565948_113565948dupC	ENSP00000261729:p.Glu55fs		Somatic				RASAL1_ENST00000446861.3_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000548055.1_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000261729.5_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000418411.2_5'UTR	p.G55fs	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	WXS	Illumina GAIIx	Phase_I	O95294	RASL1_HUMAN			4	448_449	-			55			C2 1.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Frame_Shift_Ins	INS	ENST00000261729.5	37	c.163_164insG	CCDS9165.1																																																																																				0.614	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		13	1303						13	1303	---	---	---	---
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G	rs369159999		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC8B1_ENST00000202831.3_Splice_Site|SLC8B1_ENST00000553238.1_Intron|SLC8B1_ENST00000546737.1_Intron			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1						cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										CGCCAGCGCCTGGGGGGAGGAG	0.644																																						ENST00000552014.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.e8-2						0,4260		0,0,2130						3.3	0.4		dbSNP_126	108	1,8251		0,1,4125	no	splice-3	SLC24A6	NM_024959.2		0,1,6255	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12511				SO:0001630	splice_region_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113758305_113758306insG	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.527-2->C	12.37:g.113758311_113758311dupG			Somatic				SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site|SLC24A6_ENST00000553238.1_Intron				WXS	Illumina GAIIx	Phase_I	Q6J4K2	NCKX6_HUMAN			8	1042	-								A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Splice_Site	INS	ENST00000552014.1	37		CCDS31909.1																																																																																				0.644	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959	Intron	21	1091						21	1091	---	---	---	---
TBX5	6910	broad.mit.edu	37	12	114793735	114793736	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:114793735_114793736insG	ENST00000310346.4	-	9	1824_1825	c.1158_1159insC	c.(1156-1161)cccagcfs	p.S387fs	TBX5_ENST00000349716.5_Frame_Shift_Ins_p.S337fs|TBX5_ENST00000405440.2_Frame_Shift_Ins_p.S387fs	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	387					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		ACAGGCTCGCTGGGGGGCGCAG	0.629																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1156-1161)ccgcgafs		T-box 5																																				SO:0001589	frameshift_variant	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114793735_114793736insG	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1159dupC	12.37:g.114793741_114793741dupG	ENSP00000309913:p.Ser387fs		Somatic				TBX5_ENST00000405440.2_Frame_Shift_Ins_p.R387fs|TBX5_ENST00000349716.5_Frame_Shift_Ins_p.R337fs	p.R387fs	NM_000192.3	NP_000183.2	WXS	Illumina GAIIx	Phase_I	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	9	1824_1825	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		387					A6ND77|O15301|Q96TB0|Q9Y4I2	Frame_Shift_Ins	INS	ENST00000310346.4	37	c.1158_1159insC	CCDS9173.1																																																																																				0.629	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		8	375						8	375	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)gggctgfs	p.L116fs	MSI1_ENST00000546622.1_5'Flank	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(343-348)ggtgtcfs		musashi RNA-binding protein 1																																				SO:0001589	frameshift_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120800902_120800903insC	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.346dupG	12.37:g.120800909_120800909dupC	ENSP00000257552:p.Leu116fs		Somatic					p.V116fs	NM_002442.3	NP_002433.1	WXS	Illumina GAIIx	Phase_I	O43347	MSI1H_HUMAN			6	433_434	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		116			RRM 2.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Frame_Shift_Ins	INS	ENST00000257552.2	37	c.345_346insG	CCDS9196.1																																																																																				0.564	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		22	400						22	400	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132466645	132466646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:132466645_132466646insC	ENST00000333577.4	+	6	1768_1769	c.1659_1660insC	c.(1660-1662)cccfs	p.P554fs	EP400_ENST00000389562.2_Frame_Shift_Ins_p.P517fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.P518fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.P481fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.P518fs			Q96L91	EP400_HUMAN	E1A binding protein p400	554					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGAGGAATGCCCCCCACGCC	0.589																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(1657-1662)atccccfs		E1A binding protein p400																																				SO:0001589	frameshift_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132466645_132466646insC	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1665dupC	12.37:g.132466651_132466651dupC	ENSP00000333602:p.Pro554fs		Somatic				EP400_ENST00000330386.6_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs	p.IP553fs			WXS	Illumina GAIIx	Phase_I	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	6	1768_1769	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	553					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Frame_Shift_Ins	INS	ENST00000333577.4	37	c.1659_1660insC																																																																																					0.589	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		8	622						8	622	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:133245023_133245024insG	ENST00000320574.5	-	19	2134_2135	c.2091_2092insC	c.(2089-2094)cccttgfs	p.PL697fs	POLE_ENST00000535270.1_Frame_Shift_Ins_p.PL670fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	697					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCTGGGAACAAGGGGGGGAACT	0.599								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(2089-2094)cctgttfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133245023_133245024insG		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2092dupC	12.37:g.133245030_133245030dupG	ENSP00000322570:p.Pro697fs		Somatic				POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs	p.V698fs	NM_006231.2	NP_006222.2	WXS	Illumina GAIIx	Phase_I	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	19	2134_2135	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	698					Q13533|Q86VH9	Frame_Shift_Ins	INS	ENST00000320574.5	37	c.2091_2092insC	CCDS9278.1																																																																																				0.599	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		13	354						13	354	---	---	---	---
ATP12A	479	broad.mit.edu	37	13	25262563	25262564	+	Frame_Shift_Ins	INS	-	-	G	rs35191129		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:25262563_25262564insG	ENST00000381946.3	+	4	502_503	c.335_336insG	c.(334-339)gtggggfs	p.VG112fs	ATP12A_ENST00000218548.6_Frame_Shift_Ins_p.VG112fs			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		AAGCAGATGGTGGGGGGGTTCT	0.584																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			1	Substitution - coding silent(1)	p.V112V(1)	lung(1)	breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(334-336)gggfs		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)		,	1,4263		0,1,2131					,	5.0	1.0		dbSNP_126	234	5,8249		0,5,4122	no	frameshift,frameshift	ATP12A	NM_001676.5,NM_001185085.1	,	0,6,6253	A1A1,A1R,RR		0.0606,0.0235,0.0479	,	,		6,12512				SO:0001589	frameshift_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25262563_25262564insG	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.342dupG	13.37:g.25262570_25262570dupG	ENSP00000371372:p.Val112fs		Somatic				ATP12A_ENST00000381946.3_Frame_Shift_Ins_p.G112fs	p.G112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	WXS	Illumina GAIIx	Phase_I	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	4	668_669	+		Lung SC(185;0.0225)|Breast(139;0.077)	112					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Frame_Shift_Ins	INS	ENST00000381946.3	37	c.335_336insG	CCDS31948.1																																																																																				0.584	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		71	1352						71	1352	---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76375005	76375006	+	Frame_Shift_Ins	INS	-	-	G	rs74596180	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:76375005_76375006insG	ENST00000341547.4	+	8	2064_2065	c.804_805insG	c.(805-807)gggfs	p.G269fs	LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000357063.3_Frame_Shift_Ins_p.G269fs|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.G269fs|LMO7_ENST00000465261.2_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.G178fs	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	269					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)		TCACGTTGAGAGGGGGGCGTGA	0.45																																						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.(802-807)agggggfs		LIM domain 7																																				SO:0001589	frameshift_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76375005_76375006insG	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	ENST00000341547.4:c.810dupG	13.37:g.76375011_76375011dupG	ENSP00000342112:p.Gly269fs		Somatic				LMO7_ENST00000341547.4_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.RG177fs|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000465261.2_5'UTR	p.RG268fs			WXS	Illumina GAIIx	Phase_I	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	8	2064_2065	+		Breast(118;0.0992)	268					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Frame_Shift_Ins	INS	ENST00000341547.4	37	c.804_805insG	CCDS9454.1																																																																																				0.450	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		9	589						9	589	---	---	---	---
STK24	8428	broad.mit.edu	37	13	99114124	99114125	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:99114124_99114125insC	ENST00000376547.3	-	8	1137_1138	c.992_993insG	c.(991-993)ggcfs	p.G331fs	STK24_ENST00000397517.2_Frame_Shift_Ins_p.G319fs|STK24_ENST00000539966.1_Frame_Shift_Ins_p.G300fs	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	331					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CAGAATCACTGCCCCCCGAGGC	0.535																																						ENST00000397517.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17						c.(955-957)gagfs		serine/threonine kinase 24																																				SO:0001589	frameshift_variant	8428				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr13:99114124_99114125insC	AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"""STE20-like kinase 3"", ""sterile 20-like kinase 3"""	604984	"""serine/threonine kinase 24 (Ste20, yeast homolog)"""			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.993dupG	13.37:g.99114130_99114130dupC	ENSP00000365730:p.Gly331fs		Somatic				STK24_ENST00000376547.3_Frame_Shift_Ins_p.E331fs|STK24_ENST00000539966.1_Frame_Shift_Ins_p.E300fs	p.E319fs	NM_001032296.2	NP_001027467.2	WXS	Illumina GAIIx	Phase_I	Q9Y6E0	STK24_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		8	1032_1033	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		331					O14840|Q5JV92	Frame_Shift_Ins	INS	ENST00000376547.3	37	c.956_957insG	CCDS9488.1																																																																																				0.535	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576		7	165						7	165	---	---	---	---
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)cccaagfs	p.K1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.48																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(3124-3129)ccagaafs		suppressor of Ty 16 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21820849_21820850insG	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.3127dupC	14.37:g.21820855_21820855dupG	ENSP00000216297:p.Lys1043fs		Somatic					p.E1043fs	NM_007192.3	NP_009123.1	WXS	Illumina GAIIx	Phase_I	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	26	3464_3465	-	all_cancers(95;0.00115)		1043					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Frame_Shift_Ins	INS	ENST00000216297.2	37	c.3126_3127insC	CCDS9569.1																																																																																				0.480	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			8	329						8	329	---	---	---	---
NYNRIN	57523	broad.mit.edu	37	14	24884962	24884963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:24884962_24884963insC	ENST00000382554.3	+	9	4325_4326	c.4007_4008insC	c.(4006-4011)agccccfs	p.SP1336fs		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1336					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCGCCCACCAGCCCCCCTGTCT	0.614																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(4006-4008)accfs		NYN domain and retroviral integrase containing																																				SO:0001589	frameshift_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884962_24884963insC	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4013dupC	14.37:g.24884968_24884968dupC	ENSP00000371994:p.Ser1336fs		Somatic					p.T1336fs	NM_025081.2	NP_079357.2	WXS	Illumina GAIIx	Phase_I	Q9P2P1	NYNRI_HUMAN			9	4325_4326	+			1336					Q6P153|Q86TR3|Q9HAC4	Frame_Shift_Ins	INS	ENST00000382554.3	37	c.4007_4008insC	CCDS45090.1																																																																																				0.614	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			7	397						7	397	---	---	---	---
PRKCH	5583	broad.mit.edu	37	14	61952228	61952229	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:61952228_61952229insT	ENST00000332981.5	+	10	1672_1673	c.1287_1288insT	c.(1288-1290)tttfs	p.F430fs	PRKCH_ENST00000555082.1_Frame_Shift_Ins_p.F269fs	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	430	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		AGGATCGTCTGTTTTTTGTGAT	0.46																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000332981.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1285-1290)ctttttfs		protein kinase C, eta																																				SO:0001589	frameshift_variant	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:61952228_61952229insT	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1293dupT	14.37:g.61952234_61952234dupT	ENSP00000329127:p.Phe430fs		Somatic				PRKCH_ENST00000555082.1_Frame_Shift_Ins_p.LF268fs	p.LF429fs	NM_006255.3	NP_006246.2	WXS	Illumina GAIIx	Phase_I	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	10	1672_1673	+			429			Protein kinase.		B4DJN5|Q16246|Q8NE03	Frame_Shift_Ins	INS	ENST00000332981.5	37	c.1287_1288insT	CCDS9752.1																																																																																				0.460	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		8	1124						8	1124	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)cagfs	p.Q964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2890-2892)gatfs		potassium voltage-gated channel, subfamily H (eag-related), member 5			,	5,4259		0,5,2127					,	4.2	1.0		dbSNP_126	119	5,8249		0,5,4122	no	utr-3,frameshift	KCNH5	NM_172375.1,NM_139318.3	,	0,10,6249	A1A1,A1R,RR		0.0606,0.1173,0.0799	,	,		10,12508				SO:0001589	frameshift_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174302_63174303insG	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2891dupC	14.37:g.63174309_63174309dupG	ENSP00000321427:p.Gln964fs		Somatic				KCNH5_ENST00000420622.2_3'UTR	p.D964fs	NM_139318.3	NP_647479.2	WXS	Illumina GAIIx	Phase_I	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	3158_3159	-			964					C9JP98	Frame_Shift_Ins	INS	ENST00000322893.7	37	c.2890_2891insC	CCDS9756.1																																																																																				0.391	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		18	177						18	177	---	---	---	---
ELMSAN1	91748	broad.mit.edu	37	14	74206605	74206606	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:74206605_74206606insG	ENST00000286523.5	-	2	888_889	c.106_107insC	c.(106-108)cagfs	p.Q36fs	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Frame_Shift_Ins_p.Q36fs	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	36					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GATGGACTGCTGGGGGGGCTGC	0.668																																						ENST00000286523.5																			0											c.(106-108)gcafs		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001589	frameshift_variant	91748							g.chr14:74206605_74206606insG	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.107dupC	14.37:g.74206612_74206612dupG	ENSP00000286523:p.Gln36fs		Somatic				ELMSAN1_ENST00000394071.2_Frame_Shift_Ins_p.A36fs	p.A36fs	NM_194278.3	NP_919254.2	WXS	Illumina GAIIx	Phase_I					2	888_889	-								Q6PK13|Q6PK59|Q6ZS23	Frame_Shift_Ins	INS	ENST00000286523.5	37	c.106_107insC	CCDS9819.1																																																																																				0.668	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		7	101						7	101	---	---	---	---
SERPINA1	5265	broad.mit.edu	37	14	94844884	94844885	+	Frame_Shift_Ins	INS	-	-	G	rs143329723|rs121912712	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:94844884_94844885insG	ENST00000448921.1	-	7	1730_1731	c.1158_1159insC	c.(1156-1161)cccgagfs	p.E387fs	SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.E387fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	387	RCL.		E -> K (in Christchurch; dbSNP:rs121912712).		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AACTTGACCTCGGGGGGGATAG	0.49																																						ENST00000448921.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24	GRCh37	CD890162|CI941951	SERPINA1	D|I	rs121912712|rs143329723	c.(1156-1161)ccaggtfs		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	Alpha-1-proteinase inhibitor(DB00058)																																			SO:0001589	frameshift_variant	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94844884_94844885insG	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.1159dupC	14.37:g.94844891_94844891dupG	ENSP00000416066:p.Glu387fs		Somatic				SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.G387fs	p.G387fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	WXS	Illumina GAIIx	Phase_I	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	7	1730_1731	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	387		E -> K (in Christchurch).	RCL.		A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Frame_Shift_Ins	INS	ENST00000448921.1	37	c.1158_1159insC	CCDS9925.1																																																																																				0.490	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		8	151						8	151	---	---	---	---
SNHG23	100507242	broad.mit.edu	37	14	101429467	101429468	+	lincRNA	INS	-	-	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:101429467_101429468insA	ENST00000556637.1	+	0	1848				AL132709.8_ENST00000423708.3_lincRNA|SNORD114-7_ENST00000362520.1_RNA|SNORD114-9_ENST00000364370.1_RNA																							CTGAGGTTAGTACCTAGACAGA	0.381																																						ENST00000423708.3																			0																																																			767583							g.chr14:101429467_101429468insA																													14.37:g.101429468_101429468dupA			Somatic				SNORD114-7_ENST00000362520.1_RNA				WXS	Illumina GAIIx	Phase_I					0	736	+									RNA	INS	ENST00000556637.1	37																																																																																						0.381	AL132709.5-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414510.1			34	26						34	26	---	---	---	---
EXOC3L4	91828	broad.mit.edu	37	14	103570352	103570352	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:103570352delG	ENST00000380069.3	+	3	1200	c.1124delG	c.(1123-1125)tggfs	p.W375fs		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	375					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CCGGACGTGTGGGCCCGACTG	0.761																																						ENST00000380069.3																			0				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						c.(1123-1125)tgfs		exocyst complex component 3-like 4							4.0	5.0	5.0					14																	103570352		1816	3840	5656	SO:0001589	frameshift_variant	91828							g.chr14:103570352delG	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 73"""	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.1124delG	14.37:g.103570352delG	ENSP00000369409:p.Trp375fs		Somatic					p.W375fs	NM_001077594.1	NP_001071062.1	WXS	Illumina GAIIx	Phase_I	Q17RC7	EX3L4_HUMAN			3	1200	+			375					Q14CR2	Frame_Shift_Del	DEL	ENST00000380069.3	37	c.1124delG	CCDS32163.1																																																																																				0.761	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		2	4						2	4	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25310192	25310193	+	RNA	INS	-	-	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:25310192_25310193insA	ENST00000549804.2	+	0	538				SNORD116-6_ENST00000384711.1_RNA|SNORD116-5_ENST00000384462.1_RNA|SNORD116-7_ENST00000384404.1_RNA|SNHG14_ENST00000551077.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		ATGAGTCCTCCAAAAAAAACAT	0.475																																						ENST00000549804.2																			0																																																			104472715							g.chr15:25310192_25310193insA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25310200_25310200dupA			Somatic				SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA				WXS	Illumina GAIIx	Phase_I					0	538	+									RNA	INS	ENST00000549804.2	37																																																																																						0.475	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			7	393						7	393	---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31362390	31362391	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:31362390_31362391insG	ENST00000256552.6	-	4	269_270	c.122_123insC	c.(121-123)cctfs	p.P41fs	TRPM1_ENST00000559179.1_Frame_Shift_Ins_p.P19fs|TRPM1_ENST00000397795.2_Frame_Shift_Ins_p.P19fs|TRPM1_ENST00000542188.1_Frame_Shift_Ins_p.P58fs	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CACTTGGCAGAGGGGGGATATG	0.505																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(172-174)cctfs		transient receptor potential cation channel, subfamily M, member 1																																				SO:0001589	frameshift_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31362390_31362391insG	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.123dupC	15.37:g.31362396_31362396dupG	ENSP00000256552:p.Pro41fs		Somatic				TRPM1_ENST00000397795.2_Frame_Shift_Ins_p.P19fs|TRPM1_ENST00000559179.1_Frame_Shift_Ins_p.P19fs|TRPM1_ENST00000256552.6_Frame_Shift_Ins_p.P41fs	p.P58fs	NM_001252020.1	NP_001238949.1	WXS	Illumina GAIIx	Phase_I	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	3	486_487	-		all_lung(180;1.92e-11)	19						Frame_Shift_Ins	INS	ENST00000256552.6	37	c.173_174insC	CCDS58346.1																																																																																				0.505	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		11	1060						11	1060	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34078053	34078054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:34078053_34078054insC	ENST00000389232.4	+	66	9529_9530	c.9459_9460insC	c.(9460-9462)cccfs	p.P3154fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.P3154fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3154					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGAACCTGCCCCCCAGCAC	0.564																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9457-9462)ctccccfs		ryanodine receptor 3																																				SO:0001589	frameshift_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34078053_34078054insC		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9465dupC	15.37:g.34078059_34078059dupC	ENSP00000373884:p.Pro3154fs		Somatic				RYR3_ENST00000415757.3_Frame_Shift_Ins_p.LP3153fs	p.LP3153fs	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	66	9529_9530	+		all_lung(180;7.18e-09)	3153					O15175|Q15412	Frame_Shift_Ins	INS	ENST00000389232.4	37	c.9459_9460insC	CCDS45210.1																																																																																				0.564	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	593						7	593	---	---	---	---
RASGRP1	10125	broad.mit.edu	37	15	38852203	38852203	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:38852203delT	ENST00000310803.5	-	2	216	c.39delA	c.(37-39)aaafs	p.K13fs	RASGRP1_ENST00000558164.1_Frame_Shift_Del_p.K13fs|RASGRP1_ENST00000561180.1_Frame_Shift_Del_p.K64fs|RASGRP1_ENST00000559830.1_Frame_Shift_Del_p.K13fs|RASGRP1_ENST00000539159.1_5'UTR|RASGRP1_ENST00000450598.2_Frame_Shift_Del_p.K13fs	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	13					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CATGGGAAGGTTTCCTGGGGA	0.552																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(37-39)aafs		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							34.0	38.0	37.0					15																	38852203		1961	4144	6105	SO:0001589	frameshift_variant	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38852203delT	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.39delA	15.37:g.38852203delT	ENSP00000310244:p.Lys13fs		Somatic				RASGRP1_ENST00000558164.1_Frame_Shift_Del_p.K13fs|RASGRP1_ENST00000450598.2_Frame_Shift_Del_p.K13fs|RASGRP1_ENST00000559830.1_Frame_Shift_Del_p.K13fs|RASGRP1_ENST00000539159.1_5'UTR|RASGRP1_ENST00000561180.1_Frame_Shift_Del_p.K64fs	p.K13fs	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	WXS	Illumina GAIIx	Phase_I	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	2	216	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	13					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Frame_Shift_Del	DEL	ENST00000310803.5	37	c.39delA	CCDS45222.1																																																																																				0.552	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		19	23						19	23	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccacgfs	p.T204fs	C15orf52_ENST00000397536.2_5'Flank|C15orf52_ENST00000557973.1_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000559313.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19						c.(607-612)cccgcafs		chromosome 15 open reading frame 52																																				SO:0001589	frameshift_variant	388115							g.chr15:40630771_40630772insG	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.610dupC	15.37:g.40630778_40630778dupG	ENSP00000453969:p.Thr204fs		Somatic	OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	894		p.A204fs	NM_207380.2	NP_997263.2	WXS	Illumina GAIIx	Phase_I	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	5	624_625	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	204					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Frame_Shift_Ins	INS	ENST00000559313.1	37	c.609_610insC	CCDS10055.2																																																																																				0.584	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		15	324						15	324	---	---	---	---
EHD4	30844	broad.mit.edu	37	15	42192889	42192890	+	Frame_Shift_Ins	INS	-	-	G	rs145578237		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:42192889_42192890insG	ENST00000220325.4	-	6	1662_1663	c.1579_1580insC	c.(1579-1581)cacfs	p.H527fs	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	527	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GGGCACGAGGTGGGGGGGCAGG	0.673																																						ENST00000220325.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20						c.(1579-1581)cctfs		EH-domain containing 4				15,4243		0,15,2114						4.7	1.0			23	11,8239		0,11,4114	no	frameshift	EHD4	NM_139265.3		0,26,6228	A1A1,A1R,RR		0.1333,0.3523,0.2079				26,12482				SO:0001589	frameshift_variant	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42192889_42192890insG	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1580dupC	15.37:g.42192896_42192896dupG	ENSP00000220325:p.His527fs		Somatic					p.P527fs	NM_139265.3	NP_644670.1	WXS	Illumina GAIIx	Phase_I	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	6	1662_1663	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	527			EH.		Q9HAR1|Q9NZN2	Frame_Shift_Ins	INS	ENST00000220325.4	37	c.1579_1580insC	CCDS10081.1																																																																																				0.673	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		7	61						7	61	---	---	---	---
TTBK2	146057	broad.mit.edu	37	15	43044816	43044817	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:43044816_43044817insT	ENST00000267890.6	-	14	2735_2736	c.2627_2628insA	c.(2626-2628)aatfs	p.N876fs		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	876					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TAGATATCTTATTTTTTTGCAT	0.406																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(2626-2628)aaafs		tau tubulin kinase 2																																				SO:0001589	frameshift_variant	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43044816_43044817insT	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2628dupA	15.37:g.43044823_43044823dupT	ENSP00000267890:p.Asn876fs		Somatic					p.K876fs	NM_173500.3	NP_775771.3	WXS	Illumina GAIIx	Phase_I	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	14	2735_2736	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	876					O94932|Q6ZN52|Q8IVV1	Frame_Shift_Ins	INS	ENST00000267890.6	37	c.2627_2628insA	CCDS42029.1																																																																																				0.406	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		7	419						7	419	---	---	---	---
SECISBP2L	9728	broad.mit.edu	37	15	49292068	49292069	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:49292068_49292069insT	ENST00000559471.1	-	16	2627_2628	c.2364_2365insA	c.(2362-2367)cctgttfs	p.V789fs	SECISBP2L_ENST00000559122.1_5'Flank|SECISBP2L_ENST00000261847.3_Frame_Shift_Ins_p.V744fs	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	789							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ACTACGCTAACAGGAACCAGCT	0.45																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(2362-2367)ccttagfs		SECIS binding protein 2-like																																				SO:0001589	frameshift_variant	9728							g.chr15:49292068_49292069insT	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2364_2365insA	15.37:g.49292068_49292069insT	ENSP00000453854:p.Val789fs		Somatic				SECISBP2L_ENST00000261847.3_Frame_Shift_Ins_p.*744fs	p.*789fs	NM_001193489.1	NP_001180418.1	WXS	Illumina GAIIx	Phase_I	Q93073	SBP2L_HUMAN			16	2627_2628	-			789					Q8N767	Frame_Shift_Ins	INS	ENST00000559471.1	37	c.2364_2365insA	CCDS53942.1																																																																																				0.450	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		159	341						159	341	---	---	---	---
LEO1	123169	broad.mit.edu	37	15	52258031	52258033	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:52258031_52258033delCAT	ENST00000299601.5	-	2	787_789	c.727_729delATG	c.(727-729)atgdel	p.M243del	LEO1_ENST00000315141.5_In_Frame_Del_p.M243del	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	243	Asp-rich.				endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		CAGAATTTTGCATTTTCTCTTCA	0.399																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	ENST00000299601.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(727-729)del		Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	123169				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr15:52258031_52258033delCAT	AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.727_729delATG	15.37:g.52258031_52258033delCAT	ENSP00000299601:p.Met243del		Somatic				LEO1_ENST00000315141.5_In_Frame_Del_p.M243del	p.M243del	NM_138792.2	NP_620147.1	WXS	Illumina GAIIx	Phase_I	Q8WVC0	LEO1_HUMAN		all cancers(107;0.00264)	2	787_789	-			243			Asp-rich.		Q96N99	In_Frame_Del	DEL	ENST00000299601.5	37	c.727_729delATG	CCDS10146.1																																																																																				0.399	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2	NM_138792		17	1245						17	1245	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64973566	64973567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:64973566_64973567insC	ENST00000326648.3	+	8	4349_4350	c.4221_4222insC	c.(4222-4224)cccfs	p.P1408fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1408						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTCTACCCACCCCCCAGGAG	0.47											OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(4219-4224)ccccccfs		zinc finger protein 609																																				SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64973566_64973567insC	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.4227dupC	15.37:g.64973572_64973572dupC	ENSP00000316527:p.Pro1408fs		Somatic	OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1080		p.PP1407fs	NM_015042.1	NP_055857.1	WXS	Illumina GAIIx	Phase_I	O15014	ZN609_HUMAN			8	4349_4350	+			1407					Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	c.4221_4222insC	CCDS32270.1																																																																																				0.470	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		8	697						8	697	---	---	---	---
FAH	2184	broad.mit.edu	37	15	80464492	80464493	+	Splice_Site	INS	-	-	T	rs76497285		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:80464492_80464493insT	ENST00000407106.1	+	9	763_764	c.608_609insT	c.(607-612)gctttt>gcTtttt	p.AF203fs	FAH_ENST00000558627.1_3'UTR|FAH_ENST00000261755.5_Splice_Site_p.AF203fs|FAH_ENST00000561421.1_Splice_Site_p.AF203fs|FAH_ENST00000539156.1_Splice_Site_p.AF133fs			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	203					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCATGTAAGGCTTTTTTTGTAG	0.495									Tyrosinemia, type 1																													ENST00000539156.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e7-1		fumarylacetoacetate hydrolase (fumarylacetoacetase)																																				SO:0001630	splice_region_variant	2184	Tyrosinemia, type 1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80464492_80464493insT	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.607-1->T	15.37:g.80464499_80464499dupT			Somatic				FAH_ENST00000407106.1_Splice_Site_p.V203_splice|FAH_ENST00000261755.5_Splice_Site_p.V203_splice|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Splice_Site_p.V203_splice	p.V133_splice			WXS	Illumina GAIIx	Phase_I	P16930	FAAA_HUMAN			7	2636_2637	+			203					B2R9X1|D3DW95|Q53XA7	Splice_Site	INS	ENST00000407106.1	37	c.396_splice	CCDS10314.1																																																																																				0.495	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2		Frame_Shift_Ins	7	382						7	382	---	---	---	---
IDH2	3418	broad.mit.edu	37	15	90631917	90631918	+	Frame_Shift_Ins	INS	-	-	C	rs200758694	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:90631917_90631918insC	ENST00000330062.3	-	4	548_549	c.435_436insG	c.(433-438)gggactfs	p.T146fs	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Frame_Shift_Ins_p.T94fs|IDH2_ENST00000539790.1_Frame_Shift_Ins_p.T16fs	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	146					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CGGAAGACAGTCCCCCCCAGGA	0.564			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		0				biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(433-438)ggctgtfs		isocitrate dehydrogenase 2 (NADP+), mitochondrial																																				SO:0001589	frameshift_variant	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631917_90631918insC		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.436dupG	15.37:g.90631924_90631924dupC	ENSP00000331897:p.Thr146fs		Somatic				IDH2_ENST00000540499.2_Frame_Shift_Ins_p.C94fs|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Frame_Shift_Ins_p.C16fs	p.C146fs	NM_002168.2	NP_002159.2	WXS	Illumina GAIIx	Phase_I	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	548_549	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		146					B2R6L6|B4DFL2|Q96GT3	Frame_Shift_Ins	INS	ENST00000330062.3	37	c.435_436insG	CCDS10359.1																																																																																				0.564	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			7	149						7	149	---	---	---	---
CHSY1	22856	broad.mit.edu	37	15	101775436	101775437	+	Frame_Shift_Ins	INS	-	-	C	rs74545602	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:101775436_101775437insC	ENST00000254190.3	-	2	1141_1142	c.666_667insG	c.(664-669)gggcctfs	p.P223fs		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	223					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCACGCCAGGCCCCCCCATGC	0.614																																						ENST00000254190.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24						c.(664-669)ggctggfs		chondroitin sulfate synthase 1																																				SO:0001589	frameshift_variant	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101775436_101775437insC	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.667dupG	15.37:g.101775443_101775443dupC	ENSP00000254190:p.Pro223fs		Somatic					p.W223fs	NM_014918.4	NP_055733.2	WXS	Illumina GAIIx	Phase_I	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		2	1141_1142	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		223					Q6UX38|Q7LFU5|Q9Y2J5	Frame_Shift_Ins	INS	ENST00000254190.3	37	c.666_667insG	CCDS10390.1																																																																																				0.614	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		9	117						9	117	---	---	---	---
IL9RP3	729486	broad.mit.edu	37	16	81765	81766	+	RNA	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:81765_81766insC	ENST00000568710.1	-	0	434																											GGCAACCCCTGCCCCCCATGTC	0.564																																						ENST00000568710.1																			0																																																			729486							g.chr16:81765_81766insC																													16.37:g.81771_81771dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	434	-									RNA	INS	ENST00000568710.1	37																																																																																						0.564	Z84812.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000420570.1			7	426						7	426	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2815060	2815061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:2815060_2815061insC	ENST00000301740.8	+	11	5080_5081	c.4531_4532insC	c.(4531-4533)accfs	p.T1511fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1511	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAAGTGTCTTACCCCCCAGAGA	0.525																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(4531-4533)cccfs		serine/arginine repetitive matrix 2																																				SO:0001589	frameshift_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2815060_2815061insC	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4537dupC	16.37:g.2815066_2815066dupC	ENSP00000301740:p.Thr1511fs		Somatic					p.P1511fs	NM_016333.3	NP_057417.3	WXS	Illumina GAIIx	Phase_I	Q9UQ35	SRRM2_HUMAN			11	5080_5081	+			1511			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Ins	INS	ENST00000301740.8	37	c.4531_4532insC	CCDS32373.1																																																																																				0.525	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			11	851						11	851	---	---	---	---
EMP2	2013	broad.mit.edu	37	16	10637490	10637491	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:10637490_10637491insA	ENST00000359543.3	-	3	314_315	c.105_106insT	c.(103-108)tttgcafs	p.A36fs	EMP2_ENST00000536829.1_Frame_Shift_Ins_p.A36fs	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	36					cell proliferation (GO:0008283)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|regulation of glomerular filtration (GO:0003093)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	integrin binding (GO:0005178)			NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						CAGACATCTGCAAAAAACTCAT	0.441																																					GBM(158;2021 2691 14714 39478)	ENST00000359543.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(103-108)ttcagafs		epithelial membrane protein 2																																				SO:0001589	frameshift_variant	2013				cell proliferation	integral to membrane		g.chr16:10637490_10637491insA	U52100	CCDS10541.1	16p13.2	2008-08-01			ENSG00000213853	ENSG00000213853			3334	protein-coding gene	gene with protein product		602334				8996089, 10331954, 16216233	Standard	NM_001424		Approved	XMP	uc002czx.3	P54851	OTTHUMG00000129752	ENST00000359543.3:c.106dupT	16.37:g.10637496_10637496dupA	ENSP00000352540:p.Ala36fs		Somatic				EMP2_ENST00000536829.1_Frame_Shift_Ins_p.R36fs	p.R36fs	NM_001424.4	NP_001415.1	WXS	Illumina GAIIx	Phase_I	P54851	EMP2_HUMAN			3	314_315	-			36					B2R7V6|D3DUF8	Frame_Shift_Ins	INS	ENST00000359543.3	37	c.105_106insT	CCDS10541.1																																																																																				0.441	EMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251965.1	NM_001424		7	833						7	833	---	---	---	---
CIITA	4261	broad.mit.edu	37	16	10995899	10995900	+	Frame_Shift_Ins	INS	-	-	C	rs555184617		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:10995899_10995900insC	ENST00000324288.8	+	7	619_620	c.486_487insC	c.(487-489)cccfs	p.P163fs	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	163					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCACAGCTGAGCCCCCCACTGT	0.634			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(484-489)gaccccfs		class II, major histocompatibility complex, transactivator																																				SO:0001589	frameshift_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10995899_10995900insC	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.492dupC	16.37:g.10995905_10995905dupC	ENSP00000316328:p.Pro163fs		Somatic				CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Intron	p.DP162fs	NM_000246.3	NP_000237.2	WXS	Illumina GAIIx	Phase_I	P33076	C2TA_HUMAN			7	619_620	+			162					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Frame_Shift_Ins	INS	ENST00000324288.8	37	c.486_487insC	CCDS10544.1																																																																																				0.634	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		8	579						8	579	---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3303)ttccccfs	p.FP1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3298-3300)tccfs		NODAL modulator 1																																				SO:0001589	frameshift_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14980694_14980695insC	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3305dupC	16.37:g.14980700_14980700dupC	ENSP00000287667:p.Phe1100fs		Somatic					p.S1100fs	NM_014287.3	NP_055102.3	WXS	Illumina GAIIx	Phase_I	Q15155	NOMO1_HUMAN			28	3470_3471	+			1100					P78421|Q8IW21|Q96DG0	Frame_Shift_Ins	INS	ENST00000287667.7	37	c.3299_3300insC	CCDS10556.1																																																																																				0.475	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			21	903						21	903	---	---	---	---
ACSM5	54988	broad.mit.edu	37	16	20429493	20429494	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:20429493_20429494insG	ENST00000331849.4	+	3	464_465	c.317_318insG	c.(316-321)ctggggfs	p.LG106fs	ACSM5_ENST00000575584.1_Frame_Shift_Ins_p.LG106fs	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	106					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.L106L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCCAATGTGCTGGGGGGTGCAT	0.619																																						ENST00000331849.4																			1	Substitution - coding silent(1)	p.L106L(1)	lung(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(316-318)cggfs		acyl-CoA synthetase medium-chain family member 5																																				SO:0001589	frameshift_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20429493_20429494insG		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.323dupG	16.37:g.20429499_20429499dupG	ENSP00000327916:p.Leu106fs		Somatic				ACSM5_ENST00000575584.1_Frame_Shift_Ins_p.R106fs	p.R106fs	NM_017888.2	NP_060358.2	WXS	Illumina GAIIx	Phase_I	Q6NUN0	ACSM5_HUMAN			3	464_465	+			106					Q96AV1|Q96CX8|Q9NWV3	Frame_Shift_Ins	INS	ENST00000331849.4	37	c.317_318insG	CCDS10585.1																																																																																				0.619	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		7	211						7	211	---	---	---	---
ACSM1	116285	broad.mit.edu	37	16	20673158	20673159	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:20673158_20673159insC	ENST00000307493.4	-	6	1016_1017	c.949_950insG	c.(949-951)gtafs	p.V317fs	ACSM1_ENST00000520010.1_Frame_Shift_Ins_p.V317fs|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	317					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TATAGATGATACCCCCCAAAAG	0.356																																						ENST00000307493.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.(949-951)atcfs		acyl-CoA synthetase medium-chain family member 1																																				SO:0001589	frameshift_variant	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20673158_20673159insC	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.950dupG	16.37:g.20673164_20673164dupC	ENSP00000301956:p.Val317fs		Somatic				ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Frame_Shift_Ins_p.I317fs	p.I317fs	NM_052956.2	NP_443188.2	WXS	Illumina GAIIx	Phase_I	Q08AH1	ACSM1_HUMAN			6	1016_1017	-			317					Q08AH2|Q96A20	Frame_Shift_Ins	INS	ENST00000307493.4	37	c.949_950insG	CCDS10587.1																																																																																				0.356	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		11	328						11	328	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20976647	20976648	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:20976647_20976648insG	ENST00000261383.3	-	53	8557_8558	c.8558_8559insC	c.(8557-8559)ccafs	p.P2853fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2853	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCATGGTCAGTGGGGGGATGTT	0.46																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(8557-8559)cctfs		dynein, axonemal, heavy chain 3																																				SO:0001589	frameshift_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976647_20976648insG	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8559dupC	16.37:g.20976653_20976653dupG	ENSP00000261383:p.Pro2853fs		Somatic				DNAH3_ENST00000415178.1_3'UTR	p.P2853fs	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	8557_8558	-			2853			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Ins	INS	ENST00000261383.3	37	c.8558_8559insC	CCDS10594.1																																																																																				0.460	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		12	700						12	700	---	---	---	---
RRN3P1	730092	broad.mit.edu	37	16	21814059	21814060	+	RNA	INS	-	-	G	rs571509663		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:21814059_21814060insG	ENST00000546471.1	-	0	1607							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CCTATAACAAAGGGGGGGGAAA	0.381																																						ENST00000546471.1																			0																																																			730092							g.chr16:21814059_21814060insG			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21814067_21814067dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	1607	-								A8K6T4|B3KWX9|O75704	RNA	INS	ENST00000546471.1	37																																																																																						0.381	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		8	70						8	70	---	---	---	---
HS3ST2	9956	broad.mit.edu	37	16	22926721	22926722	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:22926721_22926722insA	ENST00000261374.3	+	2	1376_1377	c.942_943insA	c.(943-945)aaafs	p.K315fs		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	315					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCCCTTGCTTGAAAAAAACAGA	0.485																																						ENST00000261374.3																			0				breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(940-945)ttaaaafs		heparan sulfate (glucosamine) 3-O-sulfotransferase 2																																				SO:0001589	frameshift_variant	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926721_22926722insA	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.949dupA	16.37:g.22926728_22926728dupA	ENSP00000261374:p.Lys315fs		Somatic					p.LK314fs	NM_006043.1	NP_006034.1	WXS	Illumina GAIIx	Phase_I	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	1376_1377	+			314					Q52LZ1	Frame_Shift_Ins	INS	ENST00000261374.3	37	c.942_943insA	CCDS10606.1																																																																																				0.485	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		9	850						9	850	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24802365	24802366	+	Frame_Shift_Ins	INS	-	-	G	rs139212478	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:24802365_24802366insG	ENST00000395799.3	+	6	2531_2532	c.2402_2403insG	c.(2401-2406)caggggfs	p.QG801fs	TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.QG801fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	801	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCAAACTGCCAGGGGGGGTGGG	0.51																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2401-2403)cggfs		trinucleotide repeat containing 6A																																				SO:0001589	frameshift_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24802365_24802366insG	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2409dupG	16.37:g.24802372_24802372dupG	ENSP00000379144:p.Gln801fs		Somatic				TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.R801fs	p.R801fs	NM_014494.2	NP_055309.2	WXS	Illumina GAIIx	Phase_I	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	2531_2532	+			801			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Frame_Shift_Ins	INS	ENST00000395799.3	37	c.2402_2403insG	CCDS10624.2																																																																																				0.510	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		9	101						9	101	---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27499709	27499710	+	Frame_Shift_Ins	INS	-	-	C	rs199881803		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:27499709_27499710insC	ENST00000356183.4	-	23	3553_3554	c.3538_3539insG	c.(3538-3540)gaafs	p.E1180fs	GTF3C1_ENST00000561623.1_Frame_Shift_Ins_p.E1180fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1180					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TACTCTTGCTTCCCCCCAAATA	0.55																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(3538-3540)agcfs		general transcription factor IIIC, polypeptide 1, alpha 220kDa																																				SO:0001589	frameshift_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27499709_27499710insC	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3539dupG	16.37:g.27499715_27499715dupC	ENSP00000348510:p.Glu1180fs		Somatic				GTF3C1_ENST00000561623.1_Frame_Shift_Ins_p.S1180fs	p.S1180fs	NM_001520.3	NP_001511.2	WXS	Illumina GAIIx	Phase_I	Q12789	TF3C1_HUMAN			23	3553_3554	-			1180					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Frame_Shift_Ins	INS	ENST00000356183.4	37	c.3538_3539insG	CCDS32414.1																																																																																				0.550	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		7	249						7	249	---	---	---	---
NPIPB11	728888	broad.mit.edu	37	16	29395346	29395346	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:29395346delT	ENST00000524087.1	-	8	981	c.907delA	c.(907-909)acafs	p.T303fs	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	303	Pro-rich.					integral component of membrane (GO:0016021)											TCGGGAGGTGTCTTGAGATTA	0.572																																						ENST00000524087.1																			0											c.(907-909)cafs		nuclear pore complex interacting protein family, member B11																																				SO:0001589	frameshift_variant	728888							g.chr16:29395346delT			16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.907delA	16.37:g.29395346delT	ENSP00000430853:p.Thr303fs		Somatic				SNX29P2_ENST00000398878.3_lincRNA	p.T303fs			WXS	Illumina GAIIx	Phase_I					8	981	-									Frame_Shift_Del	DEL	ENST00000524087.1	37	c.907delA																																																																																					0.572	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000374094.1	XM_002343430		17	67						17	67	---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29891248	29891249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:29891248_29891249insG	ENST00000308713.5	-	9	2036_2037	c.1509_1510insC	c.(1507-1512)cccaatfs	p.N504fs	SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.N390fs|SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.N434fs|SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.N460fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	504	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGATGGCATTGGGGGGCCCAG	0.604																																						ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1507-1512)ccatgcfs		seizure related 6 homolog (mouse)-like 2																																				SO:0001589	frameshift_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29891248_29891249insG	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1510dupC	16.37:g.29891254_29891254dupG	ENSP00000312550:p.Asn504fs		Somatic				SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.C390fs|SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.C460fs|SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.C434fs	p.C504fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	WXS	Illumina GAIIx	Phase_I	Q6UXD5	SE6L2_HUMAN			9	2036_2037	-			504			Sushi 2.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Frame_Shift_Ins	INS	ENST00000308713.5	37	c.1509_1510insC	CCDS10659.1																																																																																				0.604	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		12	747						12	747	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30715515	30715516	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:30715515_30715516insC	ENST00000262518.4	+	4	570_571	c.185_186insC	c.(184-189)ggccccfs	p.GP62fs	RNU6-1043P_ENST00000410355.1_RNA|SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.GP62fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.GP62fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	62					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGACCTCCAGGCCCCCCAGATG	0.624																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(184-186)gccfs		Snf2-related CREBBP activator protein																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30715515_30715516insC	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.191dupC	16.37:g.30715521_30715521dupC	ENSP00000262518:p.Gly62fs		Somatic				SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.A62fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.A62fs	p.A62fs	NM_006662.2	NP_006653.2	WXS	Illumina GAIIx	Phase_I	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		4	570_571	+			62					B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Ins	INS	ENST00000262518.4	37	c.185_186insC	CCDS10689.2																																																																																				0.624	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		7	215						7	215	---	---	---	---
C16orf87	388272	broad.mit.edu	37	16	46843530	46843531	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:46843530_46843531insT	ENST00000285697.4	-	3	591_592	c.330_331insA	c.(328-333)aaacatfs	p.H111fs	C16orf87_ENST00000394806.2_Intron|C16orf87_ENST00000564250.1_5'UTR	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	111										large_intestine(4)|urinary_tract(1)	5						TCTTCCTCATGTTTTTTGGCAG	0.351																																						ENST00000285697.4																			0				large_intestine(4)|urinary_tract(1)	5						c.(328-333)aaatgafs		chromosome 16 open reading frame 87																																				SO:0001589	frameshift_variant	388272							g.chr16:46843530_46843531insT		CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.331dupA	16.37:g.46843536_46843536dupT	ENSP00000285697:p.His111fs		Somatic				C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Intron	p.*111fs	NM_001001436.2	NP_001001436.1	WXS	Illumina GAIIx	Phase_I	Q6PH81	CP087_HUMAN			3	591_592	-			111					Q63HN9	Frame_Shift_Ins	INS	ENST00000285697.4	37	c.330_331insA	CCDS10724.1																																																																																				0.351	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	NM_001001436		10	740						10	740	---	---	---	---
KIAA0895L	653319	broad.mit.edu	37	16	67213789	67213790	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:67213789_67213790insC	ENST00000290881.7	-	4	1568_1569	c.642_643insG	c.(640-645)gggcagfs	p.Q215fs	KIAA0895L_ENST00000561621.1_Frame_Shift_Ins_p.Q215fs|KIAA0895L_ENST00000563902.1_Frame_Shift_Ins_p.Q215fs|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	215										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GTGAGCAGCTGCCCCCCAGTGG	0.569																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(640-645)ggagctfs		KIAA0895-like																																				SO:0001589	frameshift_variant	653319							g.chr16:67213789_67213790insC	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.643dupG	16.37:g.67213795_67213795dupC	ENSP00000290881:p.Gln215fs		Somatic				KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Frame_Shift_Ins_p.A215fs|KIAA0895L_ENST00000561621.1_Frame_Shift_Ins_p.A215fs	p.A215fs			WXS	Illumina GAIIx	Phase_I	Q68EN5	K895L_HUMAN			4	1568_1569	-			215					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Frame_Shift_Ins	INS	ENST00000290881.7	37	c.642_643insG	CCDS42177.1																																																																																				0.569	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		8	188						8	188	---	---	---	---
KCTD19	146212	broad.mit.edu	37	16	67325657	67325658	+	Frame_Shift_Ins	INS	-	-	G	rs201413788		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:67325657_67325658insG	ENST00000304372.5	-	13	2356_2357	c.2301_2302insC	c.(2299-2304)cccgtgfs	p.V768fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	768					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCCCACCACGGGGGGGTGAG	0.574																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(2299-2304)cctggtfs		potassium channel tetramerization domain containing 19				13,3719		0,13,1853						4.5	1.0			57	14,7888		0,14,3937	no	frameshift	KCTD19	NM_001100915.1		0,27,5790	A1A1,A1R,RR		0.1772,0.3483,0.2321				27,11607				SO:0001589	frameshift_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67325657_67325658insG	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2302dupC	16.37:g.67325664_67325664dupG	ENSP00000305702:p.Val768fs		Somatic					p.G768fs	NM_001100915.1	NP_001094385.1	WXS	Illumina GAIIx	Phase_I	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	13	2356_2357	-		Ovarian(137;0.192)	768					B4DZ49|Q8N804	Frame_Shift_Ins	INS	ENST00000304372.5	37	c.2301_2302insC	CCDS42179.1																																																																																				0.574	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		14	161						14	161	---	---	---	---
NPIPB15	440348	broad.mit.edu	37	16	74423894	74423895	+	Splice_Site	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:74423894_74423895insC	ENST00000429990.1	+	6	704_705	c.608_609insC	c.(607-612)atcccc>atCcccc	p.IP203fs				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	203						extracellular region (GO:0005576)											CTTTTTCAGATCCCCCCTTCTG	0.455																																						ENST00000429990.1																			0											c.e6-1		nuclear pore complex interacting protein family, member B15																																				SO:0001630	splice_region_variant	440348							g.chr16:74423894_74423895insC	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.607-1->C	16.37:g.74423900_74423900dupC			Somatic					p.T203_splice			WXS	Illumina GAIIx	Phase_I					6	704_705	+								C9J9U8	Splice_Site	INS	ENST00000429990.1	37	c.606_splice																																																																																					0.455	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059	Frame_Shift_Ins	7	1340						7	1340	---	---	---	---
RFWD3	55159	broad.mit.edu	37	16	74660348	74660349	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:74660348_74660349insA	ENST00000361070.4	-	12	2170_2171	c.2073_2074insT	c.(2071-2076)tttggafs	p.G692fs	RFWD3_ENST00000571750.1_Frame_Shift_Ins_p.G692fs	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	692					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GTAGGTCCTCCAAAAAATGTAT	0.45																																						ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(2071-2076)ttgaggfs		ring finger and WD repeat domain 3																																				SO:0001589	frameshift_variant	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74660348_74660349insA	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.2074dupT	16.37:g.74660354_74660354dupA	ENSP00000354361:p.Gly692fs		Somatic				RFWD3_ENST00000571750.1_Frame_Shift_Ins_p.LR691fs	p.LR691fs	NM_018124.3	NP_060594.3	WXS	Illumina GAIIx	Phase_I	Q6PCD5	RFWD3_HUMAN			12	2170_2171	-			691					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Frame_Shift_Ins	INS	ENST00000361070.4	37	c.2073_2074insT	CCDS32486.1																																																																																				0.450	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		9	603						9	603	---	---	---	---
FA2H	79152	broad.mit.edu	37	16	74752942	74752943	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:74752942_74752943insG	ENST00000219368.3	-	5	798_799	c.729_730insC	c.(727-732)cccagcfs	p.S244fs	FA2H_ENST00000544337.1_Frame_Shift_Ins_p.S31fs	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	244					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TAGCTGTCGCTGGGGGGCTTCA	0.614																																						ENST00000219368.3																			0				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						c.(727-732)ccgcgafs		fatty acid 2-hydroxylase																																				SO:0001589	frameshift_variant	79152				cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity	g.chr16:74752942_74752943insG	BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"""Fatty acid hydroxylase domain containing"""	21197	protein-coding gene	gene with protein product	"""fatty acid hydroxylase"""	611026	"""fatty acid hydroxylase domain containing 1"", ""spastic paraplegia 35 (autosomal recessive)"""	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.730dupC	16.37:g.74752948_74752948dupG	ENSP00000219368:p.Ser244fs		Somatic				FA2H_ENST00000544337.1_Frame_Shift_Ins_p.R31fs	p.R244fs	NM_024306.4	NP_077282.3	WXS	Illumina GAIIx	Phase_I	Q7L5A8	FA2H_HUMAN			5	798_799	-			244					B7Z8T6|O75213|Q96DK1|Q9H1A5	Frame_Shift_Ins	INS	ENST00000219368.3	37	c.729_730insC	CCDS10911.1																																																																																				0.614	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306		8	451						8	451	---	---	---	---
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201|rs113994200		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1045-1047)gggfs	p.G349fs	PAFAH1B1_ENST00000572915.2_Intron|PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.G144fs|RN7SL608P_ENST00000492377.2_RNA	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						c.(1042-1047)tcggggfs		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)																																				SO:0001589	frameshift_variant	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2583499_2583500insG	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.1050dupG	17.37:g.2583505_2583505dupG	ENSP00000380378:p.Gly349fs		Somatic				PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR	p.SG348fs	NM_000430.3	NP_000421.1	WXS	Illumina GAIIx	Phase_I	P43034	LIS1_HUMAN			10	1495_1496	+			348			Interaction with dynein and dynactin.			Frame_Shift_Ins	INS	ENST00000397195.5	37	c.1044_1045insG	CCDS32528.1																																																																																				0.401	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		8	614						8	614	---	---	---	---
ATP2A3	489	broad.mit.edu	37	17	3844781	3844782	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:3844781_3844782insG	ENST00000352011.3	-	13	1766_1767	c.1712_1713insC	c.(1711-1713)ccafs	p.P571fs	ATP2A3_ENST00000397041.3_Frame_Shift_Ins_p.P571fs|ATP2A3_ENST00000309890.7_Frame_Shift_Ins_p.P571fs|ATP2A3_ENST00000397043.3_Frame_Shift_Ins_p.P571fs|ATP2A3_ENST00000359983.3_Frame_Shift_Ins_p.P571fs|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Frame_Shift_Ins_p.P571fs			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	571					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCTCCTTCCTTGGGGGCGCGTC	0.649																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1711-1713)cagfs		ATPase, Ca++ transporting, ubiquitous																																				SO:0001589	frameshift_variant	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3844781_3844782insG		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1713dupC	17.37:g.3844786_3844786dupG	ENSP00000301387:p.Pro571fs		Somatic				ATP2A3_ENST00000397035.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000352011.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000359983.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397043.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397041.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397039.1_5'UTR	p.Q571fs	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	WXS	Illumina GAIIx	Phase_I	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	13	1862_1863	-			571					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Frame_Shift_Ins	INS	ENST00000352011.3	37	c.1712_1713insC	CCDS11041.1																																																																																				0.649	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		16	180						16	180	---	---	---	---
ZMYND15	84225	broad.mit.edu	37	17	4647723	4647724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:4647723_4647724insC	ENST00000433935.1	+	10	1701_1702	c.1644_1645insC	c.(1645-1647)cccfs	p.P549fs	ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.P549fs|ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.P510fs|ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.P510fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	549					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GTGATGGCCTGCCCCCCGAAAG	0.594																																						ENST00000433935.1																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(1642-1647)ctccccfs		zinc finger, MYND-type containing 15																																				SO:0001589	frameshift_variant	84225						zinc ion binding	g.chr17:4647723_4647724insC	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1650dupC	17.37:g.4647729_4647729dupC	ENSP00000391742:p.Pro549fs		Somatic				ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.LP548fs|ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.LP509fs|ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.LP509fs	p.LP548fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	WXS	Illumina GAIIx	Phase_I	Q9H091	ZMY15_HUMAN			10	1701_1702	+			509					B4DXY5|I3L296	Frame_Shift_Ins	INS	ENST00000433935.1	37	c.1644_1645insC	CCDS45584.1																																																																																				0.594	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		7	181						7	181	---	---	---	---
CAMTA2	23125	broad.mit.edu	37	17	4884523	4884524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:4884523_4884524insC	ENST00000348066.3	-	8	819_820	c.696_697insG	c.(694-699)gggcttfs	p.L233fs	CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.L235fs|CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.L232fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.L238fs|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.L233fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.L256fs	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	233					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AACTTACCAAGCCCCCCACTGC	0.55											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(691-696)ggttggfs		calmodulin binding transcription activator 2																																				SO:0001589	frameshift_variant	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4884523_4884524insC	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.697dupG	17.37:g.4884529_4884529dupC	ENSP00000321813:p.Leu233fs		Somatic	OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.W235fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.W256fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.W238fs	p.W232fs	NM_001171168.1	NP_001164639.1	WXS	Illumina GAIIx	Phase_I	O94983	CMTA2_HUMAN			7	1104_1105	-			233					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Ins	INS	ENST00000348066.3	37	c.693_694insG	CCDS11063.1																																																																																				0.550	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		7	508						7	508	---	---	---	---
YBX2	51087	broad.mit.edu	37	17	7193636	7193637	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:7193636_7193637insG	ENST00000007699.5	-	5	740_741	c.677_678insC	c.(676-678)ccafs	p.P226fs	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	226	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						AGAAGAAGGGTGGGGGGCACCA	0.658																																						ENST00000007699.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(676-678)cccfs		Y box binding protein 2																																				SO:0001589	frameshift_variant	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7193636_7193637insG	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.678dupC	17.37:g.7193642_7193642dupG	ENSP00000007699:p.Pro226fs		Somatic					p.P226fs	NM_015982.3	NP_057066.2	WXS	Illumina GAIIx	Phase_I	Q9Y2T7	YBOX2_HUMAN			5	740_741	-			226			Pro-rich.|Required for mRNA-binding.		D3DTP1|Q8N4P0	Frame_Shift_Ins	INS	ENST00000007699.5	37	c.677_678insC	CCDS11098.1																																																																																				0.658	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		8	218						8	218	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578396	7578397	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:7578396_7578397insT	ENST00000269305.4	-	5	722_723	c.533_534insA	c.(532-534)cacfs	p.H178fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.H178fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.H178fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Frame_Shift_Ins_p.H178fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.H178fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.H178fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	178	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma). {ECO:0000269|PubMed:1303181}.|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P177_C182delPHHERC(8)|p.H179Y(8)|p.0?(8)|p.H178P(6)|p.H178Q(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.H178fs*3(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.H178H(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGCGCTCATGGTGGGGGCAGCG	0.644		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		81	Deletion - In frame(26)|Substitution - Missense(20)|Deletion - Frameshift(18)|Whole gene deletion(8)|Insertion - Frameshift(3)|Complex - deletion inframe(3)|Substitution - coding silent(2)|Complex - compound substitution(1)	p.P177_C182delPHHERC(8)|p.H179Y(8)|p.0?(8)|p.H178P(6)|p.H178Q(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.H178fs*3(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.H178H(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	large_intestine(18)|upper_aerodigestive_tract(12)|breast(11)|skin(9)|central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|oesophagus(5)|bone(4)|ovary(3)|lung(2)|pancreas(2)|stomach(1)|thymus(1)|biliary_tract(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(532-534)ccafs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578396_7578397insT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.534dupA	17.37:g.7578397_7578397dupT	ENSP00000269305:p.His178fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000455263.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Frame_Shift_Ins_p.P178fs	p.P178fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	665_666	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	178		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.533_534insA	CCDS11118.1																																																																																				0.644	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		113	83						113	83	---	---	---	---
UBBP4	23666	broad.mit.edu	37	17	21731033	21731034	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:21731033_21731034insC	ENST00000578713.1	+	1	339_340	c.335_336insC	c.(334-339)atccccfs	p.IP112fs	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Frame_Shift_Ins_p.IP112fs|UBBP4_ENST00000584398.1_3'UTR					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AAAGAAGGCATCCCCCCCGACC	0.54																																						ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(334-336)accfs																																						SO:0001589	frameshift_variant	23666							g.chr17:21731033_21731034insC	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.342dupC	17.37:g.21731040_21731040dupC	ENSP00000464265:p.Ile112fs		Somatic				UBBP4_ENST00000578713.1_Frame_Shift_Ins_p.T112fs|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR	p.T112fs			WXS	Illumina GAIIx	Phase_I					2	732_733	+									Frame_Shift_Ins	INS	ENST00000578713.1	37	c.335_336insC																																																																																					0.540	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			7	99						7	99	---	---	---	---
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)cggfs	p.R76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579																																						ENST00000325874.8																			1	Unknown(1)	p.?(1)	autonomic_ganglia(1)	endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(226-228)gggfs		RAB11 family interacting protein 4 (class II)																																				SO:0001589	frameshift_variant	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29758897_29758898insG	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.232dupG	17.37:g.29758903_29758903dupG	ENSP00000312837:p.Arg76fs		Somatic					p.G76fs	NM_032932.3	NP_116321.2	WXS	Illumina GAIIx	Phase_I	Q86YS3	RFIP4_HUMAN			2	455_456	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	76			EF-hand.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Frame_Shift_Ins	INS	ENST00000325874.8	37	c.226_227insG	CCDS11267.1																																																																																				0.579	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		9	163						9	163	---	---	---	---
ASIC2	40	broad.mit.edu	37	17	31439004	31439005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:31439004_31439005insC	ENST00000359872.6	-	2	1397_1398	c.636_637insG	c.(634-639)gggacafs	p.T213fs	ASIC2_ENST00000225823.2_Frame_Shift_Ins_p.T264fs|RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	213					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CCGTTGCCTGTCCCCCCCTTGA	0.55																																						ENST00000225823.2																			0											c.(787-792)ggcaggfs		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)																																			SO:0001589	frameshift_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31439004_31439005insC	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.637dupG	17.37:g.31439011_31439011dupC	ENSP00000352934:p.Thr213fs		Somatic				RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000359872.6_Frame_Shift_Ins_p.R213fs|ASIC2_ENST00000448983.1_5'UTR	p.R264fs	NM_183377.1	NP_899233.1	WXS	Illumina GAIIx	Phase_I	Q16515	ACCN1_HUMAN			2	1661_1662	-			213					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Frame_Shift_Ins	INS	ENST00000359872.6	37	c.789_790insG	CCDS42296.1																																																																																				0.550	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		9	166						9	166	---	---	---	---
WNK4	65266	broad.mit.edu	37	17	40939869	40939870	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:40939869_40939870insG	ENST00000246914.5	+	8	1836_1837	c.1815_1816insG	c.(1816-1818)gggfs	p.G606fs	WNK4_ENST00000587705.1_Intron	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	606					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCAGCCCCCTGGGGGGGTGCC	0.634																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(1813-1818)ccggggfs		WNK lysine deficient protein kinase 4																																				SO:0001589	frameshift_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40939869_40939870insG	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1822dupG	17.37:g.40939876_40939876dupG	ENSP00000246914:p.Gly606fs		Somatic				WNK4_ENST00000587705.1_Intron	p.PG605fs	NM_032387.4	NP_115763.2	WXS	Illumina GAIIx	Phase_I	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	8	1836_1837	+		Breast(137;0.000143)	605					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Frame_Shift_Ins	INS	ENST00000246914.5	37	c.1815_1816insG	CCDS11439.1																																																																																				0.634	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			7	72						7	72	---	---	---	---
CD300LG	146894	broad.mit.edu	37	17	41931337	41931338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:41931337_41931338insC	ENST00000317310.4	+	4	685_686	c.644_645insC	c.(643-648)cgccccfs	p.RP215fs	CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.RP215fs|CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.RP130fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.RP181fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.RP130fs	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	215					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGAGCTCCCGCCCCCCCATGC	0.629																																						ENST00000317310.4																			0				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19						c.(643-645)cccfs		CD300 molecule-like family member g																																				SO:0001589	frameshift_variant	146894					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	g.chr17:41931337_41931338insC	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.651dupC	17.37:g.41931344_41931344dupC	ENSP00000321005:p.Arg215fs		Somatic				CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.P181fs|CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.P215fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.P130fs	p.P215fs	NM_145273.3	NP_660316.2	WXS	Illumina GAIIx	Phase_I	Q6UXG3	CLM9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	4	685_686	+		Breast(137;0.0199)	215					B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Frame_Shift_Ins	INS	ENST00000317310.4	37	c.644_645insC	CCDS11470.1																																																																																				0.629	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		9	82						9	82	---	---	---	---
DBF4B	80174	broad.mit.edu	37	17	42824551	42824552	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:42824551_42824552delCT	ENST00000315005.3	+	11	1069_1070	c.931_932delCT	c.(931-933)ctcfs	p.L311fs	DBF4B_ENST00000393547.2_Frame_Shift_Del_p.L311fs	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	311					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CTTCGAGGAGCTCCATGTGGTG	0.589																																						ENST00000315005.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(931-933)cfs		DBF4 homolog B (S. cerevisiae)																																				SO:0001589	frameshift_variant	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42824551_42824552delCT	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.931_932delCT	17.37:g.42824551_42824552delCT	ENSP00000323663:p.Leu311fs		Somatic				DBF4B_ENST00000393547.2_Frame_Shift_Del_p.L311fs	p.L311fs	NM_145663.2	NP_663696.1	WXS	Illumina GAIIx	Phase_I	Q8NFT6	DBF4B_HUMAN			11	1069_1070	+		Prostate(33;0.0322)	311					D3DX56|Q8TEX0|Q96B19|Q9H912	Frame_Shift_Del	DEL	ENST00000315005.3	37	c.931_932delCT	CCDS11485.1																																																																																				0.589	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		12	197						12	197	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:50008356_50008357insC	ENST00000285273.4	-	4	1383_1384	c.272_273insG	c.(271-273)ggcfs	p.G91fs	CA10_ENST00000442502.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.G97fs|CA10_ENST00000451037.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.G16fs	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development (GO:0007420)			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TTACCTTCCTGCCCCCCGTGTT	0.49																																						ENST00000451037.2																			1	Substitution - Missense(1)	p.G91V(1)	lung(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(271-273)gagfs		carbonic anhydrase X																																				SO:0001589	frameshift_variant	56934				brain development			g.chr17:50008356_50008357insC	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.273dupG	17.37:g.50008362_50008362dupC	ENSP00000285273:p.Gly91fs		Somatic				CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs	p.E91fs	NM_020178.4	NP_064563.1	WXS	Illumina GAIIx	Phase_I	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		3	1212_1213	-			91					B2R7J0|B4DGL6	Frame_Shift_Ins	INS	ENST00000285273.4	37	c.272_273insG	CCDS32684.1																																																																																				0.490	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		14	848						14	848	---	---	---	---
PSMC5	5705	broad.mit.edu	37	17	61908770	61908771	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:61908770_61908771insC	ENST00000310144.6	+	9	1262_1263	c.954_955insC	c.(955-957)cccfs	p.P319fs	PSMC5_ENST00000375812.4_Frame_Shift_Ins_p.P311fs|PSMC5_ENST00000580864.1_Frame_Shift_Ins_p.P311fs|PSMC5_ENST00000581882.1_Frame_Shift_Ins_p.P311fs|FTSJ3_ENST00000580295.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	319	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TTGAATTCCCACCCCCCAATGA	0.545																																						ENST00000310144.6																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(952-957)ccccccfs		proteasome (prosome, macropain) 26S subunit, ATPase, 5																																				SO:0001589	frameshift_variant	5705				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding	g.chr17:61908770_61908771insC	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.960dupC	17.37:g.61908776_61908776dupC	ENSP00000310572:p.Pro319fs		Somatic				PSMC5_ENST00000581882.1_Frame_Shift_Ins_p.PP310fs|PSMC5_ENST00000580864.1_Frame_Shift_Ins_p.PP310fs|PSMC5_ENST00000375812.4_Frame_Shift_Ins_p.PP310fs	p.PP318fs	NM_002805.5	NP_002796.4	WXS	Illumina GAIIx	Phase_I	P62195	PRS8_HUMAN			9	1262_1263	+			318					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Frame_Shift_Ins	INS	ENST00000310144.6	37	c.954_955insC	CCDS11645.1																																																																																				0.545	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		8	413						8	413	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62049212	62049213	+	Splice_Site	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:62049212_62049213insG	ENST00000435607.1	-	4	559		c.e4-2		SCN4A_ENST00000578147.1_Splice_Site|CTC-264K15.6_ENST00000577329.1_lincRNA	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit						membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGGTGTACCTGGGGGGGAGAG	0.589																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.e4-2		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)																																			SO:0001630	splice_region_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62049212_62049213insG	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.483-2->C	17.37:g.62049219_62049219dupG			Somatic				SCN4A_ENST00000435607.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	P35499	SCN4A_HUMAN			4	559	-								Q15478|Q16447|Q7Z6B1	Splice_Site	INS	ENST00000435607.1	37		CCDS45761.1																																																																																				0.589	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	Intron	7	137						7	137	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G	rs200065915	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)caafs	p.Q1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(3709-3711)aagfs		ATP-binding cassette, sub-family A (ABC1), member 6																																				SO:0001589	frameshift_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67083603_67083604insG	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3710dupC	17.37:g.67083609_67083609dupG	ENSP00000284425:p.Gln1237fs		Somatic				ABCA6_ENST00000446604.2_5'UTR	p.K1237fs	NM_080284.2	NP_525023.2	WXS	Illumina GAIIx	Phase_I	Q8N139	ABCA6_HUMAN			29	3883_3884	-	Breast(10;5.65e-12)		1237					Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Ins	INS	ENST00000284425.2	37	c.3709_3710insC	CCDS11683.1																																																																																				0.376	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		15	913						15	913	---	---	---	---
GRB2	2885	broad.mit.edu	37	17	73389642	73389643	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:73389642_73389643insC	ENST00000392562.1	-	2	849_850	c.67_68insG	c.(67-69)gacfs	p.D23fs	GRB2_ENST00000578961.1_Frame_Shift_Ins_p.D23fs|GRB2_ENST00000392563.1_Frame_Shift_Ins_p.D23fs|GRB2_ENST00000316804.5_Frame_Shift_Ins_p.D23fs|GRB2_ENST00000392564.1_Frame_Shift_Ins_p.D23fs|RP11-16C1.1_ENST00000578226.1_RNA|GRB2_ENST00000316615.5_Frame_Shift_Ins_p.D23fs			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	23	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	CTTGAGGATGTCCCCCCTTTTG	0.53																																						ENST00000392562.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17						c.(67-69)catfs		growth factor receptor-bound protein 2	Pegademase bovine(DB00061)																																			SO:0001589	frameshift_variant	2885				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity	g.chr17:73389642_73389643insC		CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"""SH2 domain containing"""	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.68dupG	17.37:g.73389648_73389648dupC	ENSP00000376345:p.Asp23fs		Somatic				GRB2_ENST00000316615.5_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000392563.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000392564.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000316804.5_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000578961.1_Frame_Shift_Ins_p.H23fs	p.H23fs			WXS	Illumina GAIIx	Phase_I	P62993	GRB2_HUMAN	all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		2	849_850	-	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		23			SH3 1.		P29354|Q14450|Q63057|Q63059	Frame_Shift_Ins	INS	ENST00000392562.1	37	c.67_68insG	CCDS11721.1																																																																																				0.530	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1			10	774						10	774	---	---	---	---
USP36	57602	broad.mit.edu	37	17	76814760	76814761	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:76814760_76814761insC	ENST00000542802.3	-	10	1454_1455	c.1011_1012insG	c.(1009-1014)gggaagfs	p.K338fs	USP36_ENST00000449938.2_Frame_Shift_Ins_p.K38fs|USP36_ENST00000312010.6_Frame_Shift_Ins_p.K338fs|USP36_ENST00000588467.1_5'UTR			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	338	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTGGTGATCTTCCCCCCGCTGA	0.54																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(1009-1014)ggagatfs		ubiquitin specific peptidase 36																																				SO:0001589	frameshift_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76814760_76814761insC	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.1012dupG	17.37:g.76814766_76814766dupC	ENSP00000441214:p.Lys338fs		Somatic				USP36_ENST00000449938.2_Frame_Shift_Ins_p.D38fs|USP36_ENST00000588467.1_5'UTR|USP36_ENST00000542802.2_Frame_Shift_Ins_p.D338fs	p.D338fs	NM_025090.3	NP_079366.3	WXS	Illumina GAIIx	Phase_I	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		10	1335_1336	-			338					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Frame_Shift_Ins	INS	ENST00000542802.3	37	c.1011_1012insG	CCDS32755.1																																																																																				0.540	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		8	336						8	336	---	---	---	---
ZNF532	55205	broad.mit.edu	37	18	56585962	56585963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr18:56585962_56585963insC	ENST00000336078.4	+	4	1219_1220	c.443_444insC	c.(442-447)gaccccfs	p.DP148fs	ZNF532_ENST00000591083.1_Frame_Shift_Ins_p.DP148fs|ZNF532_ENST00000589288.1_Frame_Shift_Ins_p.DP148fs|ZNF532_ENST00000591808.1_Frame_Shift_Ins_p.DP148fs|ZNF532_ENST00000591230.1_Frame_Shift_Ins_p.DP148fs	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GAGGTGGATGACCCCCCTGACA	0.554																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(442-444)gccfs		zinc finger protein 532																																				SO:0001589	frameshift_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56585962_56585963insC	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.449dupC	18.37:g.56585968_56585968dupC	ENSP00000338217:p.Asp148fs		Somatic				ZNF532_ENST00000589288.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000591083.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000591808.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000591230.1_Frame_Shift_Ins_p.A148fs	p.A148fs	NM_018181.4	NP_060651.2	WXS	Illumina GAIIx	Phase_I	Q9HCE3	ZN532_HUMAN			4	1219_1220	+			148					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Frame_Shift_Ins	INS	ENST00000336078.4	37	c.443_444insC	CCDS11969.1																																																																																				0.554	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		7	861						7	861	---	---	---	---
DENND1C	79958	broad.mit.edu	37	19	6468935	6468936	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:6468935_6468936insC	ENST00000381480.2	-	20	1548_1549	c.1436_1437insG	c.(1435-1437)ggcfs	p.G479fs	DENND1C_ENST00000543576.1_Frame_Shift_Ins_p.G435fs	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	479					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCCTCAGAGAGCCCCCCCTCTG	0.624																																						ENST00000381480.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(1435-1437)gtcfs		DENN/MADD domain containing 1C																																				SO:0001589	frameshift_variant	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6468935_6468936insC	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.1437dupG	19.37:g.6468942_6468942dupC	ENSP00000370889:p.Gly479fs		Somatic				DENND1C_ENST00000543576.1_Frame_Shift_Ins_p.V435fs	p.V479fs	NM_024898.2	NP_079174.2	WXS	Illumina GAIIx	Phase_I	Q8IV53	DEN1C_HUMAN			20	1548_1549	-			479					B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Frame_Shift_Ins	INS	ENST00000381480.2	37	c.1436_1437insG	CCDS45938.1																																																																																				0.624	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		7	52						7	52	---	---	---	---
TUBB4A	10382	broad.mit.edu	37	19	6496087	6496088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:6496087_6496088insC	ENST00000264071.2	-	4	793_794	c.422_423insG	c.(421-423)ggtfs	p.G141fs	TUBB4A_ENST00000540257.1_Frame_Shift_Ins_p.G141fs|CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000598006.1_3'UTR			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	141					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										ACCCCGTGCCACCCCCCAGCGA	0.649																																						ENST00000264071.2																			0											c.(421-423)gggfs		tubulin, beta 4A class IVa																																				SO:0001589	frameshift_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6496087_6496088insC	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.423dupG	19.37:g.6496093_6496093dupC	ENSP00000264071:p.Gly141fs		Somatic				TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Frame_Shift_Ins_p.G141fs|TUBB4A_ENST00000598006.1_3'UTR	p.G141fs			WXS	Illumina GAIIx	Phase_I	P04350	TBB4_HUMAN			4	793_794	-			141					B3KQP4|Q969E5	Frame_Shift_Ins	INS	ENST00000264071.2	37	c.422_423insG	CCDS12168.1																																																																																				0.649	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		10	395						10	395	---	---	---	---
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)cccaagfs	p.K891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AACGAGGACTTGGGGGGGATGG	0.574																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2668-2673)ccagtcfs		complement component 3																																				SO:0001589	frameshift_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6697480_6697481insG	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2671dupC	19.37:g.6697487_6697487dupG	ENSP00000245907:p.Lys891fs		Somatic					p.V891fs	NM_000064.2	NP_000055.2	WXS	Illumina GAIIx	Phase_I	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	21	2762_2763	-			891					A7E236	Frame_Shift_Ins	INS	ENST00000245907.6	37	c.2670_2671insC	CCDS32883.1																																																																																				0.574	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		15	271						15	271	---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:6755179_6755180insG	ENST00000245908.6	-	5	912_913	c.643_644insC	c.(643-645)cggfs	p.R215fs	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.R93fs	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	215					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGAGGGTGTCCGGGGGGGCTTC	0.653																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(643-645)gacfs		SH2 domain containing 3A																																				SO:0001589	frameshift_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6755179_6755180insG	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.644dupC	19.37:g.6755186_6755186dupG	ENSP00000245908:p.Arg215fs		Somatic				SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs|SH2D3A_ENST00000599563.1_5'UTR	p.D215fs	NM_005490.2	NP_005481.2	WXS	Illumina GAIIx	Phase_I	Q9BRG2	SH23A_HUMAN			5	912_913	-			215					A8K9R6|B4DRS7|Q9Y2X4	Frame_Shift_Ins	INS	ENST00000245908.6	37	c.643_644insC	CCDS12173.1																																																																																				0.653	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		21	751						21	751	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9048248	9048248	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:9048248delG	ENST00000397910.4	-	5	33586	c.33383delC	c.(33382-33384)tcafs	p.S11128fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11130	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGGCCATTGAAGGTGTGGT	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(33382-33384)tafs		mucin 16, cell surface associated							87.0	79.0	82.0					19																	9048248		1910	4122	6032	SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048248delG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33383delC	19.37:g.9048248delG	ENSP00000381008:p.Ser11128fs		Somatic					p.S11128fs	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			5	33586	-			11130			Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	c.33383delC	CCDS54212.1																																																																																				0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	795						10	795	---	---	---	---
ZNF846	162993	broad.mit.edu	37	19	9869150	9869150	+	Frame_Shift_Del	DEL	T	T	-	rs118035535	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:9869150delT	ENST00000397902.2	-	6	1016	c.603delA	c.(601-603)aaafs	p.K201fs	ZNF846_ENST00000588267.1_Frame_Shift_Del_p.K72fs|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Frame_Shift_Del_p.K72fs	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCCAACAGTCTTTGCATTCAC	0.358																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(601-603)aafs		zinc finger protein 846							122.0	126.0	125.0					19																	9869150		1968	4170	6138	SO:0001589	frameshift_variant	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9869150delT	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.603delA	19.37:g.9869150delT	ENSP00000380999:p.Lys201fs		Somatic				ZNF846_ENST00000592859.1_Frame_Shift_Del_p.K72fs|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Frame_Shift_Del_p.K72fs	p.K201fs	NM_001077624.1	NP_001071092.1	WXS	Illumina GAIIx	Phase_I	Q147U1	ZN846_HUMAN			6	1016	-			201					A8K0H1|B3KUP1	Frame_Shift_Del	DEL	ENST00000397902.2	37	c.603delA	CCDS42496.1																																																																																				0.358	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		54	57						54	57	---	---	---	---
C3P1	388503	broad.mit.edu	37	19	10160752	10160753	+	RNA	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:10160752_10160753insC	ENST00000495140.1	+	0	1411							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TAGTGGTCGTGCCCCCCACCTC	0.599																																						ENST00000495140.1																			0				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13																																														388503							g.chr19:10160752_10160753insC	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10160758_10160758dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	1411	+									RNA	INS	ENST00000495140.1	37																																																																																						0.599	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		7	752						7	752	---	---	---	---
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:11488680_11488681insG	ENST00000222139.6	-	8	1610_1611	c.1506_1507insC	c.(1504-1509)cccagcfs	p.S503fs	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	503					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	GCCACATAGCTGGGGGGCAGAG	0.569											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222139.6																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(1504-1509)ccgctafs		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)																																			SO:0001589	frameshift_variant	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11488680_11488681insG	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.1507dupC	19.37:g.11488686_11488686dupG	ENSP00000222139:p.Ser503fs		Somatic	OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	672	EPOR_ENST00000592375.2_3'UTR	p.L503fs	NM_000121.3	NP_000112.1	WXS	Illumina GAIIx	Phase_I	P19235	EPOR_HUMAN			8	1610_1611	-			503					B2RCG4|Q15443|Q2M205	Frame_Shift_Ins	INS	ENST00000222139.6	37	c.1506_1507insC	CCDS12260.1																																																																																				0.569	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			19	1109						19	1109	---	---	---	---
GCDH	2639	broad.mit.edu	37	19	13008600	13008601	+	Frame_Shift_Ins	INS	-	-	G	rs398123191		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:13008600_13008601insG	ENST00000222214.5	+	11	1377_1378	c.1166_1167insG	c.(1165-1170)ctggggfs	p.LG389fs	GCDH_ENST00000591470.1_Frame_Shift_Ins_p.LG389fs|GCDH_ENST00000457854.1_Frame_Shift_Ins_p.LG389fs|GCDH_ENST00000422947.2_Frame_Shift_Ins_p.LG345fs			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	389					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	CGAGACATGCTGGGGGGGAATG	0.599																																					GBM(123;875 1636 7726 16444 26754)	ENST00000222214.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						c.(1165-1167)cggfs		glutaryl-CoA dehydrogenase																																				SO:0001589	frameshift_variant	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13008600_13008601insG	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.1173dupG	19.37:g.13008607_13008607dupG	ENSP00000222214:p.Leu389fs		Somatic				GCDH_ENST00000422947.2_Frame_Shift_Ins_p.R345fs|GCDH_ENST00000457854.1_Frame_Shift_Ins_p.R389fs|GCDH_ENST00000591470.1_Frame_Shift_Ins_p.R389fs	p.R389fs			WXS	Illumina GAIIx	Phase_I	Q92947	GCDH_HUMAN			11	1377_1378	+			389					A8K2Z2|O14719	Frame_Shift_Ins	INS	ENST00000222214.5	37	c.1166_1167insG	CCDS12286.1																																																																																				0.599	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			7	165						7	165	---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15276860	15276861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:15276860_15276861insC	ENST00000263388.2	-	30	5479_5480	c.5404_5405insG	c.(5404-5406)gctfs	p.A1802fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1802					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGCTCCAGAGCCCCCCCACAG	0.569																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5404-5406)tctfs		notch 3																																				SO:0001589	frameshift_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15276860_15276861insC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5405dupG	19.37:g.15276867_15276867dupC	ENSP00000263388:p.Ala1802fs		Somatic					p.S1802fs	NM_000435.2	NP_000426.2	WXS	Illumina GAIIx	Phase_I	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		30	5479_5480	-			1802					Q9UEB3|Q9UPL3|Q9Y6L8	Frame_Shift_Ins	INS	ENST00000263388.2	37	c.5404_5405insG	CCDS12326.1																																																																																				0.569	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		12	237						12	237	---	---	---	---
CIB3	117286	broad.mit.edu	37	19	16275654	16275655	+	Frame_Shift_Ins	INS	-	-	T	rs6512087	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:16275654_16275655insT	ENST00000269878.4	-	5	465_466	c.416_417insA	c.(415-417)gggfs	p.G139fs	CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Frame_Shift_Ins_p.G90fs	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	139			G -> E (in dbSNP:rs6512087). {ECO:0000269|PubMed:15489334}.				calcium ion binding (GO:0005509)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CGGCACTCAGCCCCCCCCGCGT	0.569																																						ENST00000269878.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(415-417)gctfs		calcium and integrin binding family member 3																																				SO:0001589	frameshift_variant	117286						calcium ion binding	g.chr19:16275654_16275655insT	AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"""EF-hand domain containing"""	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.416_417insA	19.37:g.16275654_16275655insT	ENSP00000269878:p.Gly139fs		Somatic				CIB3_ENST00000379859.3_Frame_Shift_Ins_p.A90fs|CIB3_ENST00000541493.1_5'UTR	p.A139fs	NM_054113.2	NP_473454.1	WXS	Illumina GAIIx	Phase_I	Q96Q77	CIB3_HUMAN			5	465_466	-			139		G -> E (in dbSNP:rs6512087).			E7EUX1|Q2M1W0|Q6ISP1	Frame_Shift_Ins	INS	ENST00000269878.4	37	c.416_417insA	CCDS12340.1																																																																																				0.569	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		7	373						7	373	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16860826	16860827	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:16860826_16860827insC	ENST00000552788.1	+	4	1373_1374	c.1373_1374insC	c.(1372-1377)tgccccfs	p.CP458fs	NWD1_ENST00000379808.3_Frame_Shift_Ins_p.CP458fs|NWD1_ENST00000524140.2_Frame_Shift_Ins_p.CP458fs|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.CP323fs|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.CP458fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.CP252fs			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	458	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTCTCAACTGCCCCCCGAGGG	0.629																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1372-1374)tccfs		NACHT and WD repeat domain containing 1																																				SO:0001589	frameshift_variant	284434						ATP binding	g.chr19:16860826_16860827insC	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1379dupC	19.37:g.16860832_16860832dupC	ENSP00000447224:p.Cys458fs		Somatic				NWD1_ENST00000523826.1_Frame_Shift_Ins_p.S252fs|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.S323fs|NWD1_ENST00000552788.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000379808.3_Frame_Shift_Ins_p.S458fs	p.S458fs	NM_001007525.3	NP_001007526.3	WXS	Illumina GAIIx	Phase_I	Q149M9	NWD1_HUMAN			6	1791_1792	+			458			NACHT.		C9J021|Q68CT3	Frame_Shift_Ins	INS	ENST00000552788.1	37	c.1373_1374insC																																																																																					0.629	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		9	327						9	327	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)ggcfs	p.G546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1636-1638)gtafs		teashirt zinc finger homeobox 3				4,4260		0,4,2128						4.2	1.0			120	7,8247		0,7,4120	no	frameshift	TSHZ3	NM_020856.2		0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879				11,12507				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769061_31769062insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1638dupG	19.37:g.31769068_31769068dupC	ENSP00000240587:p.Gly546fs		Somatic					p.V546fs	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	Q63HK5	TSH3_HUMAN			2	1964_1965	-	Esophageal squamous(110;0.226)		546					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1637_1638insG	CCDS12421.2																																																																																				0.559	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		9	272						9	272	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)gggcttfs	p.L520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.5																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1555-1560)ggttgafs		teashirt zinc finger homeobox 3																																				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769141_31769142insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1558dupG	19.37:g.31769148_31769148dupC	ENSP00000240587:p.Leu520fs		Somatic					p.*520fs	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	Q63HK5	TSH3_HUMAN			2	1884_1885	-	Esophageal squamous(110;0.226)		520					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1557_1558insG	CCDS12421.2																																																																																				0.500	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		10	411						10	411	---	---	---	---
FBL	2091	broad.mit.edu	37	19	40325192	40325193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:40325192_40325193insG	ENST00000221801.3	-	9	1064_1065	c.951_952insC	c.(949-954)cccaagfs	p.K318fs	DYRK1B_ENST00000601972.1_5'Flank|DYRK1B_ENST00000323039.5_5'Flank|DYRK1B_ENST00000593685.1_5'Flank|FBL_ENST00000593503.1_5'UTR|DYRK1B_ENST00000348817.3_5'Flank|DYRK1B_ENST00000430012.2_5'Flank|DYRK1B_ENST00000597639.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	318					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TTCTTCACCTTGGGGGGTGGCC	0.505																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(949-954)ccaggtfs		fibrillarin																																				SO:0001589	frameshift_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40325192_40325193insG	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.952dupC	19.37:g.40325198_40325198dupG	ENSP00000221801:p.Lys318fs		Somatic				FBL_ENST00000593503.1_5'UTR	p.G318fs	NM_001436.3	NP_001427.2	WXS	Illumina GAIIx	Phase_I	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	9	1064_1065	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	318					B5BUE8|O75259|Q6IAT5|Q9UPI6	Frame_Shift_Ins	INS	ENST00000221801.3	37	c.951_952insC	CCDS12545.1																																																																																				0.505	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		11	573						11	573	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40433821	40433822	+	Frame_Shift_Ins	INS	-	-	G	rs375117067		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:40433821_40433822insG	ENST00000221347.6	-	2	454_455	c.447_448insC	c.(445-450)cccggcfs	p.G150fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	150	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGAGGTGCCGGGGGGTGTGA	0.604																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(445-450)ccgcacfs		Fc fragment of IgG binding protein																																				SO:0001589	frameshift_variant	8857					extracellular region	protein binding	g.chr19:40433821_40433822insG	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.448dupC	19.37:g.40433827_40433827dupG	ENSP00000221347:p.Gly150fs		Somatic					p.H150fs	NM_003890.2	NP_003881.2	WXS	Illumina GAIIx	Phase_I	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	454_455	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		150			IgGFc-binding.		O95784	Frame_Shift_Ins	INS	ENST00000221347.6	37	c.447_448insC	CCDS12546.1																																																																																				0.604	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		13	303						13	303	---	---	---	---
AXL	558	broad.mit.edu	37	19	41743932	41743933	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:41743932_41743933insC	ENST00000301178.4	+	7	1057_1058	c.867_868insC	c.(868-870)cccfs	p.P290fs	AXL_ENST00000593513.1_Frame_Shift_Ins_p.P22fs|AXL_ENST00000359092.3_Frame_Shift_Ins_p.P290fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	290	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AAGCATCCGTGCCCCCCCATCA	0.649																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(865-870)gtccccfs		AXL receptor tyrosine kinase																																				SO:0001589	frameshift_variant	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41743932_41743933insC	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.874dupC	19.37:g.41743939_41743939dupC	ENSP00000301178:p.Pro290fs		Somatic				AXL_ENST00000593513.1_Frame_Shift_Ins_p.VP21fs|AXL_ENST00000359092.3_Frame_Shift_Ins_p.VP289fs	p.VP289fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	WXS	Illumina GAIIx	Phase_I	P30530	UFO_HUMAN			7	1057_1058	+			289			Fibronectin type-III 1.		Q8N5L2|Q9UD27	Frame_Shift_Ins	INS	ENST00000301178.4	37	c.867_868insC	CCDS12575.1																																																																																				0.649	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			23	457						23	457	---	---	---	---
HNRNPUL1	11100	broad.mit.edu	37	19	41798238	41798239	+	Frame_Shift_Ins	INS	-	-	G	rs372936991		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:41798238_41798239insG	ENST00000392006.3	+	8	1261_1262	c.1088_1089insG	c.(1087-1092)ttggggfs	p.LG363fs	HNRNPUL1_ENST00000602130.1_Frame_Shift_Ins_p.LG363fs|HNRNPUL1_ENST00000595018.1_Frame_Shift_Ins_p.LG263fs|HNRNPUL1_ENST00000352456.3_Frame_Shift_Ins_p.LG263fs|HNRNPUL1_ENST00000263367.3_Frame_Shift_Ins_p.LG274fs|HNRNPUL1_ENST00000593587.1_Frame_Shift_Ins_p.LG263fs|HNRNPUL1_ENST00000378215.4_Frame_Shift_Ins_p.LG249fs	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	363	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AAGGAAGCCTTGGGGGGTCAGG	0.5																																						ENST00000392006.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1087-1089)tggfs		heterogeneous nuclear ribonucleoprotein U-like 1																																				SO:0001589	frameshift_variant	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41798238_41798239insG	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1094dupG	19.37:g.41798244_41798244dupG	ENSP00000375863:p.Leu363fs		Somatic				HNRNPUL1_ENST00000378215.4_Frame_Shift_Ins_p.W249fs|HNRNPUL1_ENST00000595018.1_Frame_Shift_Ins_p.W263fs|HNRNPUL1_ENST00000593587.1_Frame_Shift_Ins_p.W263fs|HNRNPUL1_ENST00000263367.3_Frame_Shift_Ins_p.W274fs|HNRNPUL1_ENST00000352456.3_Frame_Shift_Ins_p.W263fs|HNRNPUL1_ENST00000602130.1_Frame_Shift_Ins_p.W363fs	p.W363fs	NM_007040.3	NP_008971.2	WXS	Illumina GAIIx	Phase_I	Q9BUJ2	HNRL1_HUMAN			8	1261_1262	+			363			B30.2/SPRY.|Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Frame_Shift_Ins	INS	ENST00000392006.3	37	c.1088_1089insG	CCDS12576.1																																																																																				0.500	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		7	602						7	602	---	---	---	---
CCDC97	90324	broad.mit.edu	37	19	41825517	41825518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:41825517_41825518insC	ENST00000269967.3	+	3	663_664	c.541_542insC	c.(541-543)gccfs	p.A181fs		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	181										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GCGGTTCCGGGCCCCCCTGCTA	0.644																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(541-543)cccfs		coiled-coil domain containing 97																																				SO:0001589	frameshift_variant	90324							g.chr19:41825517_41825518insC	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.547dupC	19.37:g.41825523_41825523dupC	ENSP00000269967:p.Ala181fs		Somatic					p.P181fs	NM_052848.1	NP_443080.1	WXS	Illumina GAIIx	Phase_I	Q96F63	CCD97_HUMAN			3	663_664	+			181					Q658N6|Q96IF3	Frame_Shift_Ins	INS	ENST00000269967.3	37	c.541_542insC	CCDS12578.1																																																																																				0.644	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		16	1172						16	1172	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43439519_43439520insC			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439525_43439525dupC			Somatic				PSG7_ENST00000406070.2_RNA				WXS	Illumina GAIIx	Phase_I	Q13046	PSG7_HUMAN			0	520	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.515	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		15	1135						15	1135	---	---	---	---
MARK4	57787	broad.mit.edu	37	19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:45805663_45805664insC	ENST00000262891.4	+	17	2285_2286	c.1954_1955insC	c.(1954-1956)gccfs	p.A652fs	MARK4_ENST00000300843.4_Frame_Shift_Ins_p.P679fs	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	652					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AACGGAAACCGCCCCCCGGCTG	0.639																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2032-2037)ccccccfs		MAP/microtubule affinity-regulating kinase 4																																				SO:0001589	frameshift_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45805663_45805664insC	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1960dupC	19.37:g.45805669_45805669dupC	ENSP00000262891:p.Ala652fs		Somatic				MARK4_ENST00000262891.4_Frame_Shift_Ins_p.P652fs	p.PP678fs	NM_031417.3	NP_113605.2	WXS	Illumina GAIIx	Phase_I	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	18	2331_2332	+		all_neural(266;0.224)|Ovarian(192;0.231)	0					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Frame_Shift_Ins	INS	ENST00000262891.4	37	c.2034_2035insC	CCDS56097.1																																																																																				0.639	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		10	305						10	305	---	---	---	---
IGFL2	147920	broad.mit.edu	37	19	46663998	46663999	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:46663998_46663999insC	ENST00000377693.4	+	3	237_238	c.201_202insC	c.(202-204)cccfs	p.P68fs	IGFL2_ENST00000600243.1_3'UTR|IGFL2_ENST00000434646.2_Frame_Shift_Ins_p.P79fs|AC007193.6_ENST00000597989.1_lincRNA	NM_001135113.1	NP_001128585.1	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	68						extracellular region (GO:0005576)				cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GCCAATGTGGTCCCCCCTGCAC	0.554																																						ENST00000434646.2																			0				cervix(1)|lung(5)	6						c.(232-237)ggccccfs		IGF-like family member 2																																				SO:0001589	frameshift_variant	147920					extracellular region	protein binding	g.chr19:46663998_46663999insC	AY672112	CCDS46121.1, CCDS46122.1	19q13.32	2006-07-14							32929	protein-coding gene	gene with protein product		610545				14702039	Standard	NM_001002915		Approved	UNQ645	uc010xxv.2	Q6UWQ7		ENST00000377693.4:c.207dupC	19.37:g.46664004_46664004dupC	ENSP00000366922:p.Pro68fs		Somatic				AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000377693.4_Frame_Shift_Ins_p.GP67fs|IGFL2_ENST00000600243.1_3'UTR	p.GP78fs	NM_001002915.2	NP_001002915.2	WXS	Illumina GAIIx	Phase_I	Q6UWQ7	IGFL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)	4	525_526	+		Ovarian(192;0.0908)|all_neural(266;0.113)	67					E9PAV1|Q6B9Z3	Frame_Shift_Ins	INS	ENST00000377693.4	37	c.234_235insC	CCDS46121.1																																																																																				0.554	IGFL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000461705.1	NM_001002915		13	1333						13	1333	---	---	---	---
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:48737669_48737670insC	ENST00000359009.4	-	3	378_379	c.66_67insG	c.(64-69)gggacafs	p.T23fs	CARD8_ENST00000447740.2_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000391898.3_Frame_Shift_Ins_p.D114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.D64fs			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	23					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436																																						ENST00000391898.3																			0				endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15						c.(340-342)catfs		caspase recruitment domain family, member 8																																				SO:0001589	frameshift_variant	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48737669_48737670insC	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.67dupG	19.37:g.48737676_48737676dupC	ENSP00000351901:p.Thr23fs		Somatic				CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000357778.5_5'UTR	p.H114fs	NM_001184900.1	NP_001171829.1	WXS	Illumina GAIIx	Phase_I	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	3	382_383	-		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)	0					B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Frame_Shift_Ins	INS	ENST00000359009.4	37	c.340_341insG																																																																																					0.436	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		10	407						10	407	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)ccafs	p.P583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.P383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1747-1749)caafs		testis-specific serine kinase substrate																																				SO:0001589	frameshift_variant	60385						protein binding	g.chr19:50243063_50243064insG	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1749dupC	19.37:g.50243070_50243070dupG	ENSP00000246801:p.Pro583fs		Somatic				TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	p.Q583fs	NM_021733.1	NP_068379.1	WXS	Illumina GAIIx	Phase_I	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1830_1831	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	583					Q8WXJ0	Frame_Shift_Ins	INS	ENST00000246801.3	37	c.1748_1749insC	CCDS12780.1																																																																																				0.545	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		31	479						31	479	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243087	50243088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:50243087_50243088insC	ENST00000246801.3	-	11	1806_1807	c.1724_1725insG	c.(1723-1725)ggafs	p.G575fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	575					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CACTGCTGCCTCCCCCCATTGT	0.554																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1723-1725)gggfs		testis-specific serine kinase substrate																																				SO:0001589	frameshift_variant	60385						protein binding	g.chr19:50243087_50243088insC	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1725dupG	19.37:g.50243093_50243093dupC	ENSP00000246801:p.Gly575fs		Somatic				TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs	p.G575fs	NM_021733.1	NP_068379.1	WXS	Illumina GAIIx	Phase_I	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1806_1807	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	575					Q8WXJ0	Frame_Shift_Ins	INS	ENST00000246801.3	37	c.1724_1725insG	CCDS12780.1																																																																																				0.554	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		10	617						10	617	---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C	rs557448259|rs568951683	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)gtcfs	p.V333fs	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.53													CCCCCCC|CCCCCCC|CCCCCCCC|insertion	5	0.000998403	0.0	0.0	5008	,	,		18990	0.003		0.001	False		,,,				2504	0.001					ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(997-999)ctgfs		napsin A aspartic peptidase																																				SO:0001589	frameshift_variant	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50862305_50862306insC	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.998dupG	19.37:g.50862312_50862312dupC	ENSP00000253719:p.Val333fs		Somatic				NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.L333fs	NM_004851.1	NP_004842.1	WXS	Illumina GAIIx	Phase_I	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	8	1205_1206	-		all_neural(266;0.057)	333					Q8WWD9	Frame_Shift_Ins	INS	ENST00000253719.2	37	c.997_998insG	CCDS12794.1																																																																																				0.530	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		7	194						7	194	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51192459	51192460	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:51192459_51192460insC	ENST00000293441.1	-	15	2059_2060	c.2041_2042insG	c.(2041-2043)gccfs	p.A681fs	SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.A672fs|SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.A681fs|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.A68fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	681	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.A681S(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTCACCCTTGGCCCCCCGGAGC	0.609																																						ENST00000293441.1																			1	Substitution - Missense(1)	p.A681S(1)	lung(1)	breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(2041-2043)caafs		SH3 and multiple ankyrin repeat domains 1																																				SO:0001589	frameshift_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51192459_51192460insC	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2042dupG	19.37:g.51192465_51192465dupC	ENSP00000293441:p.Ala681fs		Somatic				SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.Q681fs|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.Q68fs|SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.Q672fs	p.Q681fs	NM_016148.2	NP_057232.2	WXS	Illumina GAIIx	Phase_I	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	15	2059_2060	-		all_neural(266;0.057)	681			PDZ.		A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Ins	INS	ENST00000293441.1	37	c.2041_2042insG	CCDS12799.1																																																																																				0.609	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		7	423						7	423	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)gggactfs	p.T15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GTCTCACCAGTCCCCCCCAGGG	0.653																																						ENST00000301420.2																			0				breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13						c.(40-45)ggctggfs		kallikrein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51326962_51326963insC	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.43dupG	19.37:g.51326969_51326969dupC	ENSP00000301420:p.Thr15fs		Somatic				KLK1_ENST00000448701.2_5'UTR	p.W15fs	NM_002257.2	NP_002248.1	WXS	Illumina GAIIx	Phase_I	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	1	77_78	-		all_neural(266;0.0199)	15					Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Frame_Shift_Ins	INS	ENST00000301420.2	37	c.42_43insG	CCDS12804.1																																																																																				0.653	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		17	454						17	454	---	---	---	---
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:52090436_52090437insG	ENST00000262259.2	+	5	1210_1211	c.852_853insG	c.(853-855)gggfs	p.G285fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	285					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTCTGAATGTGGGGGGAGCTT	0.441																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(850-855)tgggggfs		zinc finger protein 175																																				SO:0001589	frameshift_variant	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090436_52090437insG	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.858dupG	19.37:g.52090442_52090442dupG	ENSP00000262259:p.Gly285fs		Somatic				ZNF175_ENST00000436511.2_Intron	p.WG284fs	NM_007147.2	NP_009078.1	WXS	Illumina GAIIx	Phase_I	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1210_1211	+		all_neural(266;0.0299)	284					A8K9H2	Frame_Shift_Ins	INS	ENST00000262259.2	37	c.852_853insG	CCDS12837.1																																																																																				0.441	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		7	598						7	598	---	---	---	---
CNOT3	4849	broad.mit.edu	37	19	54649666	54649667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:54649666_54649667insC	ENST00000406403.1	+	8	2327_2328	c.724_725insC	c.(724-726)tccfs	p.S242fs	CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.S242fs|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.S61fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	242					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGTCGCCACCTCCCCTCCCAGC	0.644																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(724-726)cccfs		CCR4-NOT transcription complex, subunit 3																																				SO:0001589	frameshift_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54649666_54649667insC	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.728dupC	19.37:g.54649670_54649670dupC	ENSP00000383954:p.Ser242fs		Somatic				CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.P61fs|CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.P242fs	p.P242fs			WXS	Illumina GAIIx	Phase_I	O75175	CNOT3_HUMAN			8	2327_2328	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		242					Q9NZN7|Q9UF76	Frame_Shift_Ins	INS	ENST00000406403.1	37	c.724_725insC	CCDS12880.1																																																																																				0.644	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		11	136						11	136	---	---	---	---
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(259-261)cccfs	p.P87fs	NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.P87fs|NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	87						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644																																						ENST00000382291.3																			0				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(256-261)gtccccfs		neurensin 2																																				SO:0001589	frameshift_variant	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:333922_333923insC	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.264dupC	20.37:g.333928_333928dupC	ENSP00000371728:p.Pro87fs		Somatic				NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs	p.VP86fs	NM_024958.2	NP_079234.1	WXS	Illumina GAIIx	Phase_I	Q9GZP1	NRSN2_HUMAN			4	498_499	+		all_cancers(10;0.0834)	86					A8K3B2|Q6FII5|Q9NUD3	Frame_Shift_Ins	INS	ENST00000382291.3	37	c.258_259insC	CCDS12996.1																																																																																				0.644	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		14	477						14	477	---	---	---	---
JAG1	182	broad.mit.edu	37	20	10620244	10620245	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:10620244_10620245insG	ENST00000254958.5	-	26	4073_4074	c.3558_3559insC	c.(3556-3561)cccaacfs	p.N1187fs	JAG1_ENST00000423891.2_Frame_Shift_Ins_p.N1028fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1187					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGCGTGCCGTTGGGGGGCTTCT	0.515									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(3556-3561)ccacggfs		jagged 1																																				SO:0001589	frameshift_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10620244_10620245insG	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3559dupC	20.37:g.10620250_10620250dupG	ENSP00000254958:p.Asn1187fs		Somatic				JAG1_ENST00000423891.2_Frame_Shift_Ins_p.R1028fs	p.R1187fs	NM_000214.2	NP_000205.1	WXS	Illumina GAIIx	Phase_I	P78504	JAG1_HUMAN			26	4073_4074	-			1187					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Frame_Shift_Ins	INS	ENST00000254958.5	37	c.3558_3559insC	CCDS13112.1																																																																																				0.515	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		7	321						7	321	---	---	---	---
KIF16B	55614	broad.mit.edu	37	20	16407830	16407831	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:16407830_16407831insC	ENST00000354981.2	-	15	1687_1688	c.1530_1531insG	c.(1528-1533)gggacafs	p.T511fs	KIF16B_ENST00000355755.3_Frame_Shift_Ins_p.T511fs|KIF16B_ENST00000408042.1_Frame_Shift_Ins_p.T511fs|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	511	FHA.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGAGTCACTGTCCCCCCGATAT	0.431																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(1528-1533)ggcagtfs		kinesin family member 16B																																				SO:0001589	frameshift_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16407830_16407831insC	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1531dupG	20.37:g.16407836_16407836dupC	ENSP00000347076:p.Thr511fs		Somatic				KIF16B_ENST00000408042.1_Frame_Shift_Ins_p.S511fs|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Frame_Shift_Ins_p.S511fs	p.S511fs	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	WXS	Illumina GAIIx	Phase_I	Q96L93	KI16B_HUMAN			15	1687_1688	-			511			FHA.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Frame_Shift_Ins	INS	ENST00000354981.2	37	c.1530_1531insG	CCDS13122.1																																																																																				0.431	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		7	558						7	558	---	---	---	---
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gtgfs	p.V81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554																																						ENST00000217423.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16						c.(241-243)gaafs		cystatin S																																				SO:0001589	frameshift_variant	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23667825_23667826insC		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.242dupG	20.37:g.23667832_23667832dupC	ENSP00000217423:p.Val81fs		Somatic					p.E81fs	NM_001899.2	NP_001890.1	WXS	Illumina GAIIx	Phase_I	P01036	CYTS_HUMAN			2	311_312	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		81					Q9UBI5|Q9UCS9	Frame_Shift_Ins	INS	ENST00000217423.3	37	c.241_242insG	CCDS13159.1																																																																																				0.554	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		41	421						41	421	---	---	---	---
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gtgfs	p.V81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.V81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554																																						ENST00000304749.2																			0				kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(241-243)gaafs		cystatin SN																																				SO:0001589	frameshift_variant	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23729753_23729754insC	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.242dupG	20.37:g.23729760_23729760dupC	ENSP00000305731:p.Val81fs		Somatic				CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	p.E81fs	NM_001898.2	NP_001889.2	WXS	Illumina GAIIx	Phase_I	P01037	CYTN_HUMAN			2	311_312	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		81					Q96LE6|Q9UCQ6	Frame_Shift_Ins	INS	ENST00000304749.2	37	c.241_242insG	CCDS13160.1																																																																																				0.554	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		38	592						38	592	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29624034	29624035	+	Intron	INS	-	-	G	rs201117819		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:29624034_29624035insG	ENST00000278882.3	+	4	446				FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I25fs|FRG1B_ENST00000358464.4_Intron			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTTCTCCAATATTGATGAGGGC	0.287																																						ENST00000439954.2																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(73-75)tgafs																																						SO:0001627	intron_variant	284802							g.chr20:29624034_29624035insG			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.67-8->G	20.37:g.29624034_29624035insG			Somatic				FRG1B_ENST00000278882.3_Intron|FRG1B_ENST00000358464.4_Intron	p.*25fs			WXS	Illumina GAIIx	Phase_I					4	419_420	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.73_74insG																																																																																					0.287	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		2	4						2	4	---	---	---	---
PLAGL2	5326	broad.mit.edu	37	20	30789951	30789952	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:30789951_30789952insG	ENST00000246229.4	-	2	294_295	c.30_31insC	c.(28-33)ccctggfs	p.W11fs		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	11					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCTTGAATCCAGGGGGGGACGC	0.559																																					Colon(163;15 1893 11280 16306 47518)	ENST00000246229.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(28-33)ccggatfs		pleiomorphic adenoma gene-like 2																																				SO:0001589	frameshift_variant	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30789951_30789952insG		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.31dupC	20.37:g.30789958_30789958dupG	ENSP00000246229:p.Trp11fs		Somatic					p.D11fs	NM_002657.3	NP_002648.1	WXS	Illumina GAIIx	Phase_I	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	294_295	-			11					A8K8T5|E1P5M3|Q92584	Frame_Shift_Ins	INS	ENST00000246229.4	37	c.30_31insC	CCDS13197.1																																																																																				0.559	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		8	323						8	323	---	---	---	---
DNMT3B	1789	broad.mit.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G	rs200912653		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1356)gaggggfs	p.EG451fs	DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.EG355fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.EG443fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.EG389fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1351-1353)gggfs		DNA (cytosine-5-)-methyltransferase 3 beta																																				SO:0001589	frameshift_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31384650_31384651insG		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1359dupG	20.37:g.31384657_31384657dupG	ENSP00000328547:p.Glu451fs		Somatic				DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs	p.G451fs	NM_006892.3	NP_008823.1	WXS	Illumina GAIIx	Phase_I	Q9UBC3	DNM3B_HUMAN			13	1673_1674	+			451			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Frame_Shift_Ins	INS	ENST00000328111.2	37	c.1352_1353insG	CCDS13205.1																																																																																				0.559	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		15	265						15	265	---	---	---	---
SOGA1	140710	broad.mit.edu	37	20	35443591	35443592	+	Frame_Shift_Ins	INS	-	-	G	rs561942033	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:35443591_35443592insG	ENST00000357779.3	-	5	1865_1866	c.1539_1540insC	c.(1537-1542)cccttgfs	p.PL513fs	SOGA1_ENST00000279034.6_Frame_Shift_Ins_p.PL513fs|SOGA1_ENST00000237536.4_Frame_Shift_Ins_p.PL751fs|SOGA1_ENST00000456801.2_Frame_Shift_Ins_p.PL354fs			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	513					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TGGGAGCCCAAGGGGGGCAGTG	0.535																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(2251-2256)cctgggfs		suppressor of glucose, autophagy associated 1																																				SO:0001589	frameshift_variant	140710							g.chr20:35443591_35443592insG	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1540dupC	20.37:g.35443597_35443597dupG	ENSP00000350424:p.Pro513fs		Somatic				SOGA1_ENST00000456801.2_Frame_Shift_Ins_p.G355fs|SOGA1_ENST00000279034.5_Frame_Shift_Ins_p.G514fs|SOGA1_ENST00000357779.3_Frame_Shift_Ins_p.G514fs	p.G752fs	NM_080627.2	NP_542194.2	WXS	Illumina GAIIx	Phase_I	O94964	K0889_HUMAN			5	2594_2595	-			514					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Frame_Shift_Ins	INS	ENST00000357779.3	37	c.2253_2254insC																																																																																					0.535	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		7	636						7	636	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)accfs	p.T379fs	RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.T379fs|MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.T157fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446																																						ENST00000262879.6																			1	Insertion - Frameshift(1)	p.H382fs*2(1)	lung(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1135-1137)cccfs		Ral GTPase activating protein, beta subunit (non-catalytic)																																				SO:0001589	frameshift_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37146232_37146233insC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1142dupC	20.37:g.37146239_37146239dupC	ENSP00000262879:p.Thr379fs		Somatic				RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs	p.P379fs			WXS	Illumina GAIIx	Phase_I	Q86X10	RLGPB_HUMAN			8	1419_1420	+			379					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Ins	INS	ENST00000262879.6	37	c.1135_1136insC	CCDS13305.1																																																																																				0.446	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		11	203						11	203	---	---	---	---
LPIN3	64900	broad.mit.edu	37	20	39977798	39977799	+	Frame_Shift_Ins	INS	-	-	C	rs554789813|rs559175371	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:39977798_39977799insC	ENST00000373257.3	+	5	715_716	c.624_625insC	c.(625-627)cccfs	p.P209fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	209					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ATGGCGAGTGGCCCCCCCAGGC	0.54																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(622-627)tgccccfs		lipin 3																																				SO:0001589	frameshift_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39977798_39977799insC	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.631dupC	20.37:g.39977805_39977805dupC	ENSP00000362354:p.Pro209fs		Somatic					p.CP208fs	NM_022896.1	NP_075047.1	WXS	Illumina GAIIx	Phase_I	Q9BQK8	LPIN3_HUMAN			5	715_716	+		Myeloproliferative disorder(115;0.000739)	208					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Frame_Shift_Ins	INS	ENST00000373257.3	37	c.624_625insC	CCDS33469.1																																																																																				0.540	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		10	237						10	237	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44680421	44680422	+	Frame_Shift_Ins	INS	-	-	G	rs138144890		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:44680421_44680422insG	ENST00000454036.2	+	18	2407_2408	c.2358_2359insG	c.(2359-2361)gggfs	p.G787fs	SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.G764fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	787					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGGGGGCCTCGGGGGGCTGCA	0.599																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(2356-2361)ctggggfs		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)																																			SO:0001589	frameshift_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44680421_44680422insG	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2364dupG	20.37:g.44680427_44680427dupG	ENSP00000387694:p.Gly787fs		Somatic				SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.LG763fs	p.LG786fs	NM_001134771.1	NP_001128243.1	WXS	Illumina GAIIx	Phase_I	Q9H2X9	S12A5_HUMAN			18	2434_2435	+		Myeloproliferative disorder(115;0.0122)	786					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Frame_Shift_Ins	INS	ENST00000454036.2	37	c.2358_2359insG	CCDS46610.1																																																																																				0.599	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			9	376						9	376	---	---	---	---
NCOA5	57727	broad.mit.edu	37	20	44691403	44691404	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:44691403_44691404insG	ENST00000290231.6	-	8	1439_1440	c.1275_1276insC	c.(1273-1278)cccaccfs	p.T426fs		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	426					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGCTGGGAGGTGGGGGGTGCAG	0.619																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1273-1278)cccctcfs		nuclear receptor coactivator 5																																				SO:0001589	frameshift_variant	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44691403_44691404insG		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1276dupC	20.37:g.44691409_44691409dupG	ENSP00000290231:p.Thr426fs		Somatic					p.L426fs	NM_020967.2	NP_066018.1	WXS	Illumina GAIIx	Phase_I	Q9HCD5	NCOA5_HUMAN			8	1439_1440	-		Myeloproliferative disorder(115;0.0122)	426					B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Frame_Shift_Ins	INS	ENST00000290231.6	37	c.1275_1276insC	CCDS13392.1																																																																																				0.619	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		9	447						9	447	---	---	---	---
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)cccgccfs	p.A465fs	SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.A418fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.A50fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.A418fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.A415fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	465					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604																																						ENST00000279027.4																			1	Substitution - coding silent(1)	p.P464P(1)	lung(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1390-1395)ccccctfs		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)																																			SO:0001589	frameshift_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45194969_45194970insG	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1393dupC	20.37:g.45194975_45194975dupG	ENSP00000279027:p.Ala465fs		Somatic				SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs	p.PP464fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	WXS	Illumina GAIIx	Phase_I	Q8WWT9	S13A3_HUMAN			11	1410_1411	-		Myeloproliferative disorder(115;0.0122)	464					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Frame_Shift_Ins	INS	ENST00000279027.4	37	c.1392_1393insC	CCDS13400.1																																																																																				0.604	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			12	560						12	560	---	---	---	---
PARD6B	84612	broad.mit.edu	37	20	49366718	49366719	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:49366718_49366719delAC	ENST00000371610.2	+	3	1055_1056	c.812_813delAC	c.(811-813)aacfs	p.N271fs	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	271					axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TCTACTGATAACAGCCTTCTTG	0.47																																						ENST00000371610.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						c.(811-813)afs		par-6 family cell polarity regulator beta																																				SO:0001589	frameshift_variant	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49366718_49366719delAC	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"""par-6 (partitioning defective 6, C.elegans) homolog beta"", ""par-6 partitioning defective 6 homolog beta (C. elegans)"""			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.812_813delAC	20.37:g.49366718_49366719delAC	ENSP00000360672:p.Asn271fs		Somatic				PARD6B_ENST00000396039.1_Intron	p.N271fs	NM_032521.2	NP_115910.1	WXS	Illumina GAIIx	Phase_I	Q9BYG5	PAR6B_HUMAN			3	1055_1056	+			271					A2A2A7|Q9Y510	Frame_Shift_Del	DEL	ENST00000371610.2	37	c.812_813delAC	CCDS33485.1																																																																																				0.470	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		119	214						119	214	---	---	---	---
PHACTR3	116154	broad.mit.edu	37	20	58342388	58342389	+	Frame_Shift_Ins	INS	-	-	C	rs201118563		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:58342388_58342389insC	ENST00000371015.1	+	5	1156_1157	c.689_690insC	c.(688-693)agccccfs	p.SP230fs	PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000395636.2_Frame_Shift_Ins_p.SP189fs|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000359926.3_Frame_Shift_Ins_p.SP227fs|PHACTR3_ENST00000541461.1_Frame_Shift_Ins_p.SP189fs|PHACTR3_ENST00000355648.4_Frame_Shift_Ins_p.SP189fs	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	230	Pro-rich.					nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CAGCTCCCCAGCCCCCCACTGC	0.594																																						ENST00000371015.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59						c.(688-690)accfs		phosphatase and actin regulator 3																																				SO:0001589	frameshift_variant	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58342388_58342389insC	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.695dupC	20.37:g.58342394_58342394dupC	ENSP00000360054:p.Ser230fs		Somatic				PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000355648.4_Frame_Shift_Ins_p.T189fs|PHACTR3_ENST00000359926.3_Frame_Shift_Ins_p.T227fs|PHACTR3_ENST00000541461.1_Frame_Shift_Ins_p.T189fs|PHACTR3_ENST00000395636.2_Frame_Shift_Ins_p.T189fs|PHACTR3_ENST00000395639.4_Intron	p.T230fs	NM_080672.3	NP_542403.1	WXS	Illumina GAIIx	Phase_I	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		5	1156_1157	+	all_lung(29;0.00344)		230			Pro-rich.		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Frame_Shift_Ins	INS	ENST00000371015.1	37	c.689_690insC	CCDS13480.1																																																																																				0.594	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		7	262						7	262	---	---	---	---
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-540)caccccfs	p.HP179fs	OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.HP167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.HP87fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(535-537)cccfs		oxysterol binding protein-like 2			,	18,4246		0,18,2114					,	4.9	1.0			111	7,8247		0,7,4120	no	frameshift,frameshift	OSBPL2	NM_144498.1,NM_014835.2	,	0,25,6234	A1A1,A1R,RR		0.0848,0.4221,0.1997	,	,		25,12493				SO:0001589	frameshift_variant	9885				lipid transport		lipid binding	g.chr20:60854257_60854258insC	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.543dupC	20.37:g.60854264_60854264dupC	ENSP00000316649:p.His179fs		Somatic				OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs|OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs	p.P179fs	NM_144498.1	NP_653081.1	WXS	Illumina GAIIx	Phase_I	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		7	738_739	+	Breast(26;7.76e-09)		179					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Frame_Shift_Ins	INS	ENST00000313733.3	37	c.536_537insC	CCDS13495.1																																																																																				0.465	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		14	267						14	267	---	---	---	---
YTHDF1	54915	broad.mit.edu	37	20	61833738	61833738	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:61833738delT	ENST00000370339.3	-	4	1895	c.1554delA	c.(1552-1554)caafs	p.Q518fs	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Frame_Shift_Del_p.Q468fs	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	518	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTTTCAGCACTTGCTTGGCTT	0.532																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1552-1554)cafs		YTH domain family, member 1							176.0	135.0	149.0					20																	61833738		2203	4300	6503	SO:0001589	frameshift_variant	54915							g.chr20:61833738delT	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1554delA	20.37:g.61833738delT	ENSP00000359364:p.Gln518fs		Somatic				YTHDF1_ENST00000370333.4_Frame_Shift_Del_p.Q468fs|YTHDF1_ENST00000370334.4_Intron	p.Q518fs	NM_017798.3	NP_060268.2	WXS	Illumina GAIIx	Phase_I	Q9BYJ9	YTHD1_HUMAN			4	1895	-			518			YTH.		Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Frame_Shift_Del	DEL	ENST00000370339.3	37	c.1554delA	CCDS13511.1																																																																																				0.532	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		9	112						9	112	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11038792	11038793	+	RNA	INS	-	-	T	rs60506963|rs8175341	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:11038792_11038793insT	ENST00000470054.1	-	0	1410_1411							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCCATGCCAGTTTTTTGGAGT	0.416																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038792_11038793insT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038798_11038798dupT			Somatic								WXS	Illumina GAIIx	Phase_I			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1410_1411	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.416	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	962						7	962	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(466-468)cccfs	p.P156fs	ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.P119fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.P156fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.P156fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	156					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(463-468)gtccccfs		intersectin 1 (SH3 domain protein)																																				SO:0001589	frameshift_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35122566_35122567insC	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.472dupC	21.37:g.35122573_35122573dupC	ENSP00000370719:p.Pro156fs		Somatic				ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs	p.VP155fs	NM_003024.2	NP_003015.2	WXS	Illumina GAIIx	Phase_I	Q15811	ITSN1_HUMAN			6	753_754	+			155					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Frame_Shift_Ins	INS	ENST00000381318.3	37	c.465_466insC	CCDS33545.1																																																																																				0.525	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		7	208						7	208	---	---	---	---
PSMG1	8624	broad.mit.edu	37	21	40550409	40550409	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:40550409delT	ENST00000331573.3	-	5	1086	c.621delA	c.(619-621)gaafs	p.E207fs	PSMG1_ENST00000380900.2_Frame_Shift_Del_p.E186fs	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	207					cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				TATTCGGTTGTTCTAGCAATG	0.388																																						ENST00000331573.3																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8						c.(619-621)gafs		proteasome (prosome, macropain) assembly chaperone 1							140.0	138.0	139.0					21																	40550409		2203	4300	6503	SO:0001589	frameshift_variant	8624				proteasome assembly	endoplasmic reticulum	protein binding	g.chr21:40550409delT	AJ006291	CCDS13660.1, CCDS13661.1	21q22.3	2007-10-23	2007-10-23	2007-10-23	ENSG00000183527	ENSG00000183527			3043	protein-coding gene	gene with protein product		605296	"""Down syndrome critical region gene 2"""	DSCR2		10872820, 17189198	Standard	NM_003720		Approved	c21-LRP, LRPC21, PAC1	uc002yxi.4	O95456	OTTHUMG00000066034	ENST00000331573.3:c.621delA	21.37:g.40550409delT	ENSP00000329915:p.Glu207fs		Somatic				PSMG1_ENST00000380900.2_Frame_Shift_Del_p.E186fs	p.E207fs	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	WXS	Illumina GAIIx	Phase_I	O95456	PSMG1_HUMAN			5	1086	-		Prostate(19;8.44e-08)	207					B5BUN2|Q6FHA3|Q6FHD3|Q6S713	Frame_Shift_Del	DEL	ENST00000331573.3	37	c.621delA	CCDS13660.1																																																																																				0.388	PSMG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141404.2	NM_003720		27	116						27	116	---	---	---	---
ZBTB21	49854	broad.mit.edu	37	21	43411090	43411098	+	In_Frame_Del	DEL	ATGTGATTG	ATGTGATTG	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:43411090_43411098delATGTGATTG	ENST00000310826.5	-	3	3290_3298	c.3107_3115delCAATCACAT	c.(3106-3117)gcaatcacattt>gtt	p.1036_1039AITF>V	ZBTB21_ENST00000398505.3_In_Frame_Del_p.835_838AITF>V|ZBTB21_ENST00000398499.1_In_Frame_Del_p.1036_1039AITF>V|ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398511.3_In_Frame_Del_p.1036_1039AITF>V	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	1036					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)|methyl-CpG binding (GO:0008327)										TGTCTTTTAAATGTGATTGCTGAAAGGGG	0.44																																						ENST00000310826.5																			0											c.(3106-3117)gtt>g		zinc finger and BTB domain containing 21																																				SO:0001651	inframe_deletion	49854							g.chr21:43411090_43411098delATGTGATTG	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.3107_3115delCAATCACAT	21.37:g.43411090_43411098delATGTGATTG	ENSP00000308759:p.Ala1036_Phe1039delinsVal		Somatic				ZBTB21_ENST00000398511.3_In_Frame_Del_p.AITF1036del|ZBTB21_ENST00000398505.3_In_Frame_Del_p.AITF835del|ZBTB21_ENST00000398499.1_In_Frame_Del_p.AITF1036del	p.AITF1036del	NM_001098402.1	NP_001091872.1	WXS	Illumina GAIIx	Phase_I					3	3290_3298	-								Q5R2W1|Q5R2W2|Q6P4R0	In_Frame_Del	DEL	ENST00000310826.5	37	c.3107_3115delCAATCACAT	CCDS13678.1																																																																																				0.440	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		26	82						26	82	---	---	---	---
PDE9A	5152	broad.mit.edu	37	21	44171249	44171250	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:44171249_44171250insT	ENST00000291539.6	+	9	737_738	c.677_678insT	c.(676-681)agttttfs	p.SF226fs	PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.SF92fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.SF98fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.SF98fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.SF140fs|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.SF166fs|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.SF66fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.SF159fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.SF125fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.SF200fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.SF185fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.SF124fs|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.SF99fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.SF173fs	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	226					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	TGTAAGTACAGTTTTTTGGATA	0.52																																						ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(676-678)attfs		phosphodiesterase 9A																																				SO:0001589	frameshift_variant	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44171249_44171250insT	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.683dupT	21.37:g.44171255_44171255dupT	ENSP00000291539:p.Ser226fs		Somatic				PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.I124fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.I66fs|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.I99fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.I200fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.I159fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.I185fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.I140fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.I173fs|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.I166fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.I92fs|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.I125fs	p.I226fs	NM_002606.2	NP_002597.1	WXS	Illumina GAIIx	Phase_I	O76083	PDE9A_HUMAN			9	737_738	+			226					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Frame_Shift_Ins	INS	ENST00000291539.6	37	c.677_678insT	CCDS13690.1																																																																																				0.520	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			11	901						11	901	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47666704	47666705	+	Frame_Shift_Ins	INS	-	-	G	rs200634923	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:47666704_47666705insG	ENST00000397708.1	-	22	4640_4641	c.4386_4387insC	c.(4384-4389)cccaaafs	p.K1463fs	MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|AP001469.7_ENST00000444966.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.K1463fs|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1463					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTTCATTTTGGGGGGAAGCA	0.609																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(4384-4389)ccaaatfs		minichromosome maintenance complex component 3 associated protein																																				SO:0001589	frameshift_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47666704_47666705insG	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4387dupC	21.37:g.47666710_47666710dupG	ENSP00000380820:p.Lys1463fs		Somatic				MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.N1463fs|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA	p.N1463fs			WXS	Illumina GAIIx	Phase_I	O60318	MCM3A_HUMAN			22	4640_4641	-	Breast(49;0.112)		1463					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Ins	INS	ENST00000397708.1	37	c.4386_4387insC	CCDS13734.1																																																																																				0.609	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		17	779						17	779	---	---	---	---
CECR1	51816	broad.mit.edu	37	22	17662759	17662760	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:17662759_17662760insC	ENST00000399839.1	-	9	1662_1663	c.1392_1393insG	c.(1390-1395)gggatgfs	p.M465fs	CECR1_ENST00000449907.2_Frame_Shift_Ins_p.M423fs|CECR1_ENST00000399837.2_Frame_Shift_Ins_p.M465fs|CECR1_ENST00000330232.4_Frame_Shift_Ins_p.M224fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.M465fs	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	465					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TCAGCCTTCATCCCCCCAATGC	0.564																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(1390-1395)ggtgaafs		cat eye syndrome chromosome region, candidate 1																																				SO:0001589	frameshift_variant	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17662759_17662760insC	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1393dupG	22.37:g.17662765_17662765dupC	ENSP00000382733:p.Met465fs		Somatic				CECR1_ENST00000449907.2_Frame_Shift_Ins_p.E423fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.E465fs|CECR1_ENST00000399837.2_Frame_Shift_Ins_p.E465fs|CECR1_ENST00000330232.4_Frame_Shift_Ins_p.E224fs	p.E465fs			WXS	Illumina GAIIx	Phase_I	Q9NZK5	CECR1_HUMAN			9	1662_1663	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	465					A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Frame_Shift_Ins	INS	ENST00000399839.1	37	c.1392_1393insG	CCDS13742.1																																																																																				0.564	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			7	478						7	478	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:18022285_18022286insC	ENST00000400585.2	+	16	2402_2403	c.1964_1965insC	c.(1963-1968)gtccccfs	p.VP655fs	CECR2_ENST00000400573.5_Frame_Shift_Ins_p.VP796fs|CECR2_ENST00000262608.8_Frame_Shift_Ins_p.VP797fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2389-2391)gccfs		cat eye syndrome chromosome region, candidate 2																																				SO:0001589	frameshift_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022285_18022286insC	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1971dupC	22.37:g.18022292_18022292dupC	ENSP00000383428:p.Val655fs		Somatic				CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs|CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs	p.A797fs	NM_031413.3	NP_113601.2	WXS	Illumina GAIIx	Phase_I	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2390_2391	+		all_epithelial(15;0.139)	838					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Ins	INS	ENST00000400585.2	37	c.2390_2391insC																																																																																					0.609	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		9	261						9	261	---	---	---	---
SERPIND1	3053	broad.mit.edu	37	22	21138419	21138420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:21138419_21138420insG	ENST00000215727.5	+	3	1332_1333	c.1049_1050insG	c.(1048-1053)gtggggfs	p.VG350fs	SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.VG350fs|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	350					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CTGGAATACGTGGGGGGCATCA	0.54											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1048-1050)gggfs		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)																																			SO:0001589	frameshift_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21138419_21138420insG	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1055dupG	22.37:g.21138425_21138425dupG	ENSP00000215727:p.Val350fs		Somatic	OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	746	PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs|PI4KA_ENST00000572273.1_Intron	p.G350fs	NM_000185.3	NP_000176.2	WXS	Illumina GAIIx	Phase_I	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		3	1332_1333	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	350					B2RAI1|D3DX34|Q6IBZ5	Frame_Shift_Ins	INS	ENST00000215727.5	37	c.1049_1050insG	CCDS13783.1																																																																																				0.540	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		8	508						8	508	---	---	---	---
ZNF280A	129025	broad.mit.edu	37	22	22869526	22869527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:22869526_22869527insG	ENST00000302097.3	-	2	680_681	c.428_429insC	c.(427-429)ccafs	p.P143fs	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACTGAGTCCCTGGGGGGAGCGA	0.455																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(427-429)cggfs		zinc finger protein 280A																																				SO:0001589	frameshift_variant	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869526_22869527insG	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.429dupC	22.37:g.22869532_22869532dupG	ENSP00000302855:p.Pro143fs		Somatic					p.R143fs	NM_080740.3	NP_542778.1	WXS	Illumina GAIIx	Phase_I	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	680_681	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	143						Frame_Shift_Ins	INS	ENST00000302097.3	37	c.428_429insC	CCDS13800.1																																																																																				0.455	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		7	295						7	295	---	---	---	---
ZNF70	7621	broad.mit.edu	37	22	24087085	24087086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:24087085_24087086insG	ENST00000341976.3	-	2	702_703	c.242_243insC	c.(241-243)ccafs	p.P81fs		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GTCTGGTTCCTGGGGGGATACT	0.495																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(241-243)cggfs		zinc finger protein 70																																				SO:0001589	frameshift_variant	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24087085_24087086insG	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.243dupC	22.37:g.24087091_24087091dupG	ENSP00000339314:p.Pro81fs		Somatic					p.R81fs	NM_021916.2	NP_068735.1	WXS	Illumina GAIIx	Phase_I	Q9UC06	ZNF70_HUMAN			2	702_703	-			81						Frame_Shift_Ins	INS	ENST00000341976.3	37	c.242_243insC	CCDS13812.1																																																																																				0.495	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		7	1037						7	1037	---	---	---	---
RP1-288L1.4	0	broad.mit.edu	37	22	35111630	35111631	+	lincRNA	INS	-	-	TCC	rs139630126		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:35111630_35111631insTCC	ENST00000440858.1	-	0	64																											cctcattctcttcctcctcctc	0.495																																						ENST00000440858.1																			0																																																			0							g.chr22:35111630_35111631insTCC																													22.37:g.35111637_35111639dupTCC			Somatic								WXS	Illumina GAIIx	Phase_I					0	64	-									RNA	INS	ENST00000440858.1	37																																																																																						0.495	RP1-288L1.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000320593.1			4	8						4	8	---	---	---	---
TOM1	10043	broad.mit.edu	37	22	35730352	35730352	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:35730352delG	ENST00000449058.2	+	11	1184	c.1059delG	c.(1057-1059)ctgfs	p.L353fs	TOM1_ENST00000436462.2_Frame_Shift_Del_p.L315fs|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000411850.1_Frame_Shift_Del_p.L353fs|MIR3909_ENST00000579518.1_RNA|TOM1_ENST00000425375.1_Frame_Shift_Del_p.L308fs|TOM1_ENST00000447733.1_Frame_Shift_Del_p.L320fs	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	353					endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GAGCTGGCCTGCAGTCTCTGG	0.582																																						ENST00000411850.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						c.(1057-1059)ctfs		target of myb1 (chicken)							76.0	74.0	74.0					22																	35730352		2203	4300	6503	SO:0001589	frameshift_variant	10043				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding	g.chr22:35730352delG	AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"""target of myb1 (chicken) homolog"""			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.1059delG	22.37:g.35730352delG	ENSP00000394466:p.Leu353fs		Somatic				TOM1_ENST00000449058.2_Frame_Shift_Del_p.L353fs|TOM1_ENST00000436462.2_Frame_Shift_Del_p.L315fs|TOM1_ENST00000425375.1_Frame_Shift_Del_p.L308fs|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000447733.1_Frame_Shift_Del_p.L320fs	p.L353fs	NM_001135732.1	NP_001129204.1	WXS	Illumina GAIIx	Phase_I	O60784	TOM1_HUMAN			11	1184	+			353					B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Frame_Shift_Del	DEL	ENST00000449058.2	37	c.1059delG	CCDS13913.1																																																																																				0.582	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488		9	111						9	111	---	---	---	---
TMPRSS6	164656	broad.mit.edu	37	22	37466612	37466612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:37466612delG	ENST00000346753.3	-	15	1896	c.1780delC	c.(1780-1782)ctcfs	p.L594fs	TMPRSS6_ENST00000381792.2_Frame_Shift_Del_p.L585fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Del_p.L585fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Del_p.L585fs	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	594	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CGAACCTGGAGGCTGGCCTGC	0.672																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1753-1755)tcfs		transmembrane protease, serine 6							43.0	44.0	44.0					22																	37466612		2203	4300	6503	SO:0001589	frameshift_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37466612delG	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1780delC	22.37:g.37466612delG	ENSP00000334962:p.Leu594fs		Somatic				TMPRSS6_ENST00000346753.3_Frame_Shift_Del_p.L594fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Del_p.L585fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Del_p.L585fs	p.L585fs			WXS	Illumina GAIIx	Phase_I	Q8IU80	TMPS6_HUMAN			15	1893	-			594			Peptidase S1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Frame_Shift_Del	DEL	ENST00000346753.3	37	c.1753delC	CCDS13941.1																																																																																				0.672	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		8	24						8	24	---	---	---	---
POLR2F	5435	broad.mit.edu	37	22	38363690	38363691	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:38363690_38363691insG	ENST00000442738.2	+	5	477_478	c.352_353insG	c.(352-354)tggfs	p.W118fs	POLR2F_ENST00000470701.1_Frame_Shift_Ins_p.W113fs|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	118					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					CTATGAAGACTGGGGGGTGGAC	0.515																																						ENST00000442738.2																			0				breast(1)|urinary_tract(2)	3						c.(352-354)gggfs		polymerase (RNA) II (DNA directed) polypeptide F																																				SO:0001589	frameshift_variant	5435				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity	g.chr22:38363690_38363691insG		CCDS13963.1	22q13.1	2013-01-21			ENSG00000100142	ENSG00000100142		"""RNA polymerase subunits"""	9193	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 14.4 kda polypeptide"""	604414				8786150	Standard	XR_112241		Approved	RPB6, HRBP14.4	uc010gxi.3	P61218	OTTHUMG00000151160	ENST00000442738.2:c.358dupG	22.37:g.38363696_38363696dupG	ENSP00000403852:p.Trp118fs		Somatic				POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000484894.1_Intron|POLR2F_ENST00000470701.1_Frame_Shift_Ins_p.G113fs	p.G118fs	NM_021974.3	NP_068809.1	WXS	Illumina GAIIx	Phase_I	P61218	RPAB2_HUMAN			5	477_478	+	Melanoma(58;0.045)		118					P41584|Q6IAY3	Frame_Shift_Ins	INS	ENST00000442738.2	37	c.352_353insG	CCDS13963.1																																																																																				0.515	POLR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321570.1	NM_021974		8	370						8	370	---	---	---	---
ATF4	468	broad.mit.edu	37	22	39917950	39917951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:39917950_39917951insC	ENST00000337304.2	+	2	1281_1282	c.399_400insC	c.(400-402)cccfs	p.P134fs	ATF4_ENST00000404241.2_Frame_Shift_Ins_p.P134fs|ATF4_ENST00000396680.1_Frame_Shift_Ins_p.P134fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	134					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	CTAATAAGCAGCCCCCCCAGAC	0.525																																						ENST00000337304.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(397-402)caccccfs		activating transcription factor 4																																				SO:0001589	frameshift_variant	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39917950_39917951insC	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.406dupC	22.37:g.39917957_39917957dupC	ENSP00000336790:p.Pro134fs		Somatic				ATF4_ENST00000404241.2_Frame_Shift_Ins_p.HP133fs|ATF4_ENST00000396680.1_Frame_Shift_Ins_p.HP133fs	p.HP133fs	NM_001675.2	NP_001666.2	WXS	Illumina GAIIx	Phase_I	P18848	ATF4_HUMAN			2	1281_1282	+	Melanoma(58;0.04)		133					Q9UH31	Frame_Shift_Ins	INS	ENST00000337304.2	37	c.399_400insC	CCDS13996.1																																																																																				0.525	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		19	252						19	252	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40681766	40681767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:40681766_40681767insC	ENST00000454349.2	+	12	3911_3912	c.3700_3701insC	c.(3700-3702)tccfs	p.S1234fs	TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.S430fs|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000335727.9_Frame_Shift_Ins_p.S1124fs|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.S430fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1234	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CCAGTTTATTTCCCCCCAGGTA	0.45																																						ENST00000454349.2																			0				breast(1)	1						c.(3700-3702)cccfs		trinucleotide repeat containing 6B																																				SO:0001589	frameshift_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40681766_40681767insC	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.3706dupC	22.37:g.40681772_40681772dupC	ENSP00000401946:p.Ser1234fs		Somatic				TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs	p.P1234fs	NM_001162501.1	NP_001155973.1	WXS	Illumina GAIIx	Phase_I	Q9UPQ9	TNR6B_HUMAN			12	3911_3912	+			1234					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Frame_Shift_Ins	INS	ENST00000454349.2	37	c.3700_3701insC	CCDS54533.1																																																																																				0.450	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				9	457						9	457	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40708590	40708591	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:40708590_40708591insG	ENST00000454349.2	+	18	4728_4729	c.4517_4518insG	c.(4516-4521)ctggggfs	p.LG1506fs	TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.LG702fs|TNRC6B_ENST00000335727.9_Frame_Shift_Ins_p.LG1396fs|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.LG702fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1506	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GGAAGTGTGCTGGGGGGTACAG	0.48																																						ENST00000454349.2																			0				breast(1)	1						c.(4516-4518)cggfs		trinucleotide repeat containing 6B																																				SO:0001589	frameshift_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40708590_40708591insG	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.4523dupG	22.37:g.40708596_40708596dupG	ENSP00000401946:p.Leu1506fs		Somatic				TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.R1396fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.R702fs|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.R702fs	p.R1506fs	NM_001162501.1	NP_001155973.1	WXS	Illumina GAIIx	Phase_I	Q9UPQ9	TNR6B_HUMAN			18	4728_4729	+			1506					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Frame_Shift_Ins	INS	ENST00000454349.2	37	c.4517_4518insG	CCDS54533.1																																																																																				0.480	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				8	666						8	666	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:41574678_41574679insC	ENST00000263253.7	+	31	8182_8183	c.6963_6964insC	c.(6964-6966)cccfs	p.P2322fs	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2322					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACAGTCCCAGCCCCCCCACTC	0.609			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(6961-6966)caccccfs		E1A binding protein p300																																				SO:0001589	frameshift_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41574678_41574679insC	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6970dupC	22.37:g.41574685_41574685dupC	ENSP00000263253:p.Pro2322fs		Somatic				RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.HP2321fs	NM_001429.3	NP_001420.2	WXS	Illumina GAIIx	Phase_I	Q09472	EP300_HUMAN			31	8182_8183	+			2321					B1AKC2	Frame_Shift_Ins	INS	ENST00000263253.7	37	c.6963_6964insC	CCDS14010.1																																																																																				0.609	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		7	153						7	153	---	---	---	---
CERK	64781	broad.mit.edu	37	22	47086001	47086002	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:47086001_47086002insC	ENST00000216264.8	-	12	1540_1541	c.1428_1429insG	c.(1426-1431)gggaagfs	p.K477fs	CERK_ENST00000541677.1_Frame_Shift_Ins_p.K279fs|CERK_ENST00000471929.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	477					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)	p.K477fs*>61(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AAGCGCTTCTTCCCCCCCTCCT	0.559																																						ENST00000216264.8																			1	Deletion - Frameshift(1)	p.K477fs*>61(1)	ovary(1)	cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(1426-1431)ggagaafs		ceramide kinase																																				SO:0001589	frameshift_variant	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47086001_47086002insC	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.1429dupG	22.37:g.47086008_47086008dupC	ENSP00000216264:p.Lys477fs		Somatic				CERK_ENST00000541677.1_Frame_Shift_Ins_p.E279fs|CERK_ENST00000471929.1_5'UTR	p.E477fs	NM_022766.5	NP_073603.2	WXS	Illumina GAIIx	Phase_I	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	12	1540_1541	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	477					A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Frame_Shift_Ins	INS	ENST00000216264.8	37	c.1428_1429insG	CCDS14077.1																																																																																				0.559	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		7	240						7	240	---	---	---	---
PPP6R2	9701	broad.mit.edu	37	22	50845255	50845256	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:50845255_50845256insT	ENST00000216061.5	+	5	735_736	c.365_366insT	c.(364-369)agttttfs	p.SF122fs	PPP6R2_ENST00000395744.3_Frame_Shift_Ins_p.SF122fs|PPP6R2_ENST00000359139.3_Frame_Shift_Ins_p.SF122fs|PPP6R2_ENST00000395741.3_Frame_Shift_Ins_p.SF122fs			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	122						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CTGCTCGCCAGTTTTTTCAGCA	0.559																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(364-366)attfs		protein phosphatase 6, regulatory subunit 2																																				SO:0001589	frameshift_variant	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50845255_50845256insT	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.371dupT	22.37:g.50845261_50845261dupT	ENSP00000216061:p.Ser122fs		Somatic				PPP6R2_ENST00000216061.5_Frame_Shift_Ins_p.I122fs|PPP6R2_ENST00000395741.3_Frame_Shift_Ins_p.I122fs|PPP6R2_ENST00000395744.3_Frame_Shift_Ins_p.I122fs	p.I122fs	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	WXS	Illumina GAIIx	Phase_I	O75170	PP6R2_HUMAN			4	759_760	+			122					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Frame_Shift_Ins	INS	ENST00000216061.5	37	c.365_366insT																																																																																					0.559	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		8	2037						8	2037	---	---	---	---
DHRSX	207063	broad.mit.edu	37	X	2343335	2343336	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:2343335_2343336insG	ENST00000334651.5	-	2	171_172	c.119_120insC	c.(118-120)ccafs	p.P40fs		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	40							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGTCAGGTCGTGGGGGGAAAAC	0.455																																						ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(118-120)ccgfs		dehydrogenase/reductase (SDR family) X-linked																																				SO:0001589	frameshift_variant	207063						binding|oxidoreductase activity	g.chrX:2343335_2343336insG	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.120dupC	X.37:g.2343341_2343341dupG	ENSP00000334113:p.Pro40fs		Somatic					p.P40fs	NM_145177.2	NP_660160.2	WXS	Illumina GAIIx	Phase_I	Q8N5I4	DHRSX_HUMAN			2	171_172	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	40					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Frame_Shift_Ins	INS	ENST00000334651.5	37	c.119_120insC	CCDS35195.1																																																																																				0.455	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		18	492						18	492	---	---	---	---
ARHGAP6	395	broad.mit.edu	37	X	11162200	11162201	+	Frame_Shift_Ins	INS	-	-	C	rs145388618		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:11162200_11162201insC	ENST00000337414.4	-	11	2947_2948	c.2075_2076insG	c.(2074-2076)ggcfs	p.G692fs	ARHGAP6_ENST00000413512.3_3'UTR|ARHGAP6_ENST00000380736.1_Frame_Shift_Ins_p.G489fs|ARHGAP6_ENST00000380718.1_Frame_Shift_Ins_p.G692fs|ARHGAP6_ENST00000303025.6_Frame_Shift_Ins_p.G489fs|ARHGAP6_ENST00000534860.1_Frame_Shift_Ins_p.G517fs	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	692					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GCTTCTCCGAGCCCCCCGGGGC	0.584											OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000337414.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2074-2076)gtcfs		Rho GTPase activating protein 6																																				SO:0001589	frameshift_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11162200_11162201insC	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2076dupG	X.37:g.11162206_11162206dupC	ENSP00000338967:p.Gly692fs		Somatic	OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	670	ARHGAP6_ENST00000380718.1_Frame_Shift_Ins_p.V692fs|ARHGAP6_ENST00000380736.1_Frame_Shift_Ins_p.V489fs|ARHGAP6_ENST00000303025.6_Frame_Shift_Ins_p.V489fs|ARHGAP6_ENST00000534860.1_Frame_Shift_Ins_p.V517fs|ARHGAP6_ENST00000413512.3_3'UTR	p.V692fs	NM_013427.2	NP_038286.2	WXS	Illumina GAIIx	Phase_I	O43182	RHG06_HUMAN			11	2947_2948	-			692					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Frame_Shift_Ins	INS	ENST00000337414.4	37	c.2075_2076insG	CCDS14140.1																																																																																				0.584	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		8	165						8	165	---	---	---	---
PRRG1	5638	broad.mit.edu	37	X	37312610	37312611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:37312610_37312611insC	ENST00000542554.1	+	5	665_666	c.393_394insC	c.(394-396)cccfs	p.P132fs	PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.P132fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.P132fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.P132fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	132	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTATCACCCCACCCCCCCCACC	0.485																																						ENST00000542554.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P135fs*3(1)|p.P134fs*19(1)	ovary(2)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(391-396)ccccccfs		proline rich Gla (G-carboxyglutamic acid) 1																																				SO:0001589	frameshift_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312610_37312611insC	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.401dupC	X.37:g.37312618_37312618dupC	ENSP00000444278:p.Pro132fs		Somatic				PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR	p.PP131fs	NM_001173489.1	NP_001166960.1	WXS	Illumina GAIIx	Phase_I	O14668	TMG1_HUMAN			5	665_666	+			131			Poly-Pro.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Frame_Shift_Ins	INS	ENST00000542554.1	37	c.393_394insC	CCDS14239.1																																																																																				0.485	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		12	190						12	190	---	---	---	---
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	RNA	INS	-	-	G	rs41305745		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:48159107_48159108insG	ENST00000608568.1	-	0	580					NR_073393.1		Q7RTT3	SSX9_HUMAN	synovial sarcoma, X breakpoint 9						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.49																																						ENST00000376909.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						c.(424-426)cggfs																																								280660							g.chrX:48159107_48159108insG	BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648			19655	other	unknown		300544				12216073	Standard	NR_073393		Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490		X.37:g.48159113_48159113dupG			Somatic				SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs	p.R142fs			WXS	Illumina GAIIx	Phase_I					6	487_488	-									Frame_Shift_Ins	INS	ENST00000608568.1	37	c.425_426insC																																																																																					0.490	SSX9-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000472372.1	NR_073393		9	439						9	439	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)ccgfs	p.P142fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.P54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.P142fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			2	Substitution - Missense(2)	p.P142Q(2)	lung(2)	endometrium(3)|large_intestine(1)|lung(9)	13						c.(424-426)cggfs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48209462_48209463insG	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.426dupC	X.37:g.48209468_48209468dupG	ENSP00000298396:p.Pro142fs		Somatic				SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs	p.R142fs	NM_021014.2	NP_066294.1	WXS	Illumina GAIIx	Phase_I	Q99909	SSX3_HUMAN			6	477_478	-			142					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.425_426insC	CCDS14291.1																																																																																				0.495	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		7	408						7	408	---	---	---	---
GAGE10	643832	broad.mit.edu	37	X	49161392	49161393	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:49161392_49161393insC	ENST00000407599.3	+	2	147_148	c.54_55insC	c.(55-57)cccfs	p.P19fs		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	19										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					TCTATGTAGAGCCCCCTGAAAT	0.421																																						ENST00000407599.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(52-57)gaccccfs		G antigen 10																																				SO:0001589	frameshift_variant	643832							g.chrX:49161392_49161393insC			Xp11.23	2010-06-03			ENSG00000215274	ENSG00000215274			30968	protein-coding gene	gene with protein product							Standard	XM_006710256		Approved	OTTHUMG00000024136	uc010nir.1	A6NGK3	OTTHUMG00000024136	ENST00000407599.3:c.59dupC	X.37:g.49161397_49161397dupC	ENSP00000385415:p.Pro19fs		Somatic					p.DP18fs	NM_001098413.2	NP_001091883.2	WXS	Illumina GAIIx	Phase_I	A6NGK3	GAG10_HUMAN			2	147_148	+	Ovarian(276;0.236)		18						Frame_Shift_Ins	INS	ENST00000407599.3	37	c.54_55insC	CCDS43938.1																																																																																				0.421	GAGE10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060816.1	NM_001098413		7	575						7	575	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:50350711_50350713delTCC	ENST00000289292.7	-	6	3712_3714	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1143_1144EE>E|SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3427-3432)gaa>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350711_50350713delTCC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3429_3431delGGA	X.37:g.50350711_50350713delTCC	ENSP00000289292:p.Glu1151del		Somatic				SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del	p.EE1149del	NM_020717.3	NP_065768.2	WXS	Illumina GAIIx	Phase_I	Q9ULL8	SHRM4_HUMAN			6	3454_3456	-	Ovarian(276;0.236)		1149			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3429_3431delGGA	CCDS35277.1																																																																																				0.547	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		7	20						7	20	---	---	---	---
IL2RG	3561	broad.mit.edu	37	X	70327613	70327614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:70327613_70327614insG	ENST00000374202.2	-	8	1173_1174	c.1082_1083insC	c.(1081-1083)ccafs	p.P361fs	IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.P171fs|IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.P90fs|CXorf65_ENST00000374251.5_5'Flank	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGGTGTAACATGGGGGGGCCCA	0.584									Severe Combined Immunodeficiency, X-linked																													ENST00000374202.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15						c.(1081-1083)ctgfs		interleukin 2 receptor, gamma	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)																																			SO:0001589	frameshift_variant	3561	Severe Combined Immunodeficiency, X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70327613_70327614insG	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.1083dupC	X.37:g.70327620_70327620dupG	ENSP00000363318:p.Pro361fs		Somatic				IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.L90fs|IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.L171fs	p.L361fs	NM_000206.2	NP_000197.1	WXS	Illumina GAIIx	Phase_I	P31785	IL2RG_HUMAN			8	1173_1174	-	Renal(35;0.156)		361					Q5FC12	Frame_Shift_Ins	INS	ENST00000374202.2	37	c.1082_1083insC	CCDS14406.1																																																																																				0.584	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2			10	79						10	79	---	---	---	---
NHSL2	340527	broad.mit.edu	37	X	71360110	71360111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:71360110_71360111insC	ENST00000373677.1	+	2	2876_2877	c.1614_1615insC	c.(1615-1617)cccfs	p.P539fs	NHSL2_ENST00000510661.1_Frame_Shift_Ins_p.P674fs|NHSL2_ENST00000535692.1_Frame_Shift_Ins_p.P539fs|NHSL2_ENST00000540800.1_Frame_Shift_Ins_p.P905fs			Q5HYW2	NHSL2_HUMAN	NHS-like 2	539										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCTTGGCTATGCCCCCCAGGAG	0.574																																						ENST00000373677.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28						c.(1612-1617)atccccfs		NHS-like 2																																				SO:0001589	frameshift_variant	340527							g.chrX:71360110_71360111insC			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1620dupC	X.37:g.71360116_71360116dupC	ENSP00000362781:p.Pro539fs		Somatic				NHSL2_ENST00000535692.1_Frame_Shift_Ins_p.IP538fs|NHSL2_ENST00000510661.1_Frame_Shift_Ins_p.IP673fs|NHSL2_ENST00000540800.1_Frame_Shift_Ins_p.IP904fs	p.IP538fs			WXS	Illumina GAIIx	Phase_I	F5H593	F5H593_HUMAN			2	2876_2877	+	Renal(35;0.156)		904					B2RN94	Frame_Shift_Ins	INS	ENST00000373677.1	37	c.1614_1615insC																																																																																					0.574	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		7	155						7	155	---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:73963268_73963269insC	ENST00000055682.6	-	3	1734_1735	c.1123_1124insG	c.(1123-1125)gagfs	p.E375fs		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	375					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTATCTTCCTCCCCCCAGATG	0.475																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(1123-1125)ggafs		KIAA2022																																				SO:0001589	frameshift_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963268_73963269insC		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1124dupG	X.37:g.73963274_73963274dupC	ENSP00000055682:p.Glu375fs		Somatic				KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs	p.G375fs			WXS	Illumina GAIIx	Phase_I	Q5QGS0	K2022_HUMAN			3	1774_1775	-			375					A7YY87|Q5JUX9|Q8IVE9	Frame_Shift_Ins	INS	ENST00000055682.6	37	c.1123_1124insG	CCDS35337.1																																																																																				0.475	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		7	354						7	354	---	---	---	---
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C	rs186832346		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:117960135_117960136insC	ENST00000310164.2	+	4	1435_1436	c.928_929insC	c.(928-930)tccfs	p.S310fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(928-930)cccfs		zinc finger, CCHC domain containing 12																																				SO:0001589	frameshift_variant	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960135_117960136insC	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.934dupC	X.37:g.117960141_117960141dupC	ENSP00000308921:p.Ser310fs		Somatic					p.P310fs	NM_173798.2	NP_776159.1	WXS	Illumina GAIIx	Phase_I	Q6PEW1	ZCH12_HUMAN			4	1435_1436	+			310					B3KV48|Q6PID5|Q8N1C1	Frame_Shift_Ins	INS	ENST00000310164.2	37	c.928_929insC	CCDS14574.1																																																																																				0.564	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		14	845						14	845	---	---	---	---
F8	2157	broad.mit.edu	37	X	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-	rs387906455		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)aatfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413																																						ENST00000360256.4																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.N1460fs*5(2)|p.N1460fs*2(2)	haematopoietic_and_lymphoid_tissue(2)|breast(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CD910498	F8	D		c.(4378-4380)atfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						86.0	84.0	85.0					X																	154157686		2203	4300	6503	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157686delT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4379delA	X.37:g.154157686delT	ENSP00000353393:p.Asn1461fs		Somatic					p.N1461fs	NM_000132.3	NP_000123.1	WXS	Illumina GAIIx	Phase_I	P00451	FA8_HUMAN			14	4579	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1461			B.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.4379delA	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			7	273						7	273	---	---	---	---
PLOD1	5351	broad.mit.edu	37	1	12024284	12024285	+	Frame_Shift_Ins	INS	-	-	G	rs373446893		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:12024284_12024285insG	ENST00000196061.4	+	12	1282_1283	c.1255_1256insG	c.(1255-1257)tggfs	p.W419fs	PLOD1_ENST00000376369.3_Frame_Shift_Ins_p.W466fs	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	419					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)	p.A421fs*45(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	GTCGAACTTCTGGGGGGCTCTC	0.629																																						ENST00000196061.4																			1	Insertion - Frameshift(1)	p.A421fs*45(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1255-1257)gggfs		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12024284_12024285insG	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1261dupG	1.37:g.12024290_12024290dupG	ENSP00000196061:p.Trp419fs		Somatic				PLOD1_ENST00000376369.3_Frame_Shift_Ins_p.G466fs	p.G419fs	NM_000302.3	NP_000293.2	WXS	Illumina GAIIx	Phase_I	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	12	1282_1283	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	419					B4DR87|Q96AV9|Q9H132	Frame_Shift_Ins	INS	ENST00000196061.4	37	c.1255_1256insG	CCDS142.1																																																																																				0.629	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		8	223						8	223	---	---	---	---
RPS6KA1	6195	broad.mit.edu	37	1	26900615	26900616	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:26900615_26900616insC	ENST00000374168.2	+	22	2285_2286	c.2131_2132insC	c.(2131-2133)accfs	p.T711fs	RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.T695fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.T619fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.T619fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.T700fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.T720fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	711					axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CTCCAAGCCCACCCCCCAGCTG	0.629																																						ENST00000374168.2																			0				lung(1)	1						c.(2131-2133)cccfs		ribosomal protein S6 kinase, 90kDa, polypeptide 1																																				SO:0001589	frameshift_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26900615_26900616insC	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.2137dupC	1.37:g.26900621_26900621dupC	ENSP00000363283:p.Thr711fs		Somatic				RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.P700fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.P695fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.P619fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.P619fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.P720fs	p.P711fs	NM_002953.3	NP_002944.2	WXS	Illumina GAIIx	Phase_I	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	22	2285_2286	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	711					A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Frame_Shift_Ins	INS	ENST00000374168.2	37	c.2131_2132insC	CCDS284.1																																																																																				0.629	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		7	151						7	151	---	---	---	---
PEF1	553115	broad.mit.edu	37	1	32101045	32101047	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:32101045_32101047delGCC	ENST00000373703.4	-	2	123_125	c.101_103delGGC	c.(100-105)gggcag>gag	p.34_35GQ>E	PEF1_ENST00000492061.1_5'UTR|PEF1_ENST00000440872.2_In_Frame_Del_p.34_35GQ>E	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	34	9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.				proteolysis (GO:0006508)|response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|poly(A) RNA binding (GO:0044822)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		CTACCATACTGCCCTCCACTATT	0.626																																						ENST00000373703.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7						c.(100-105)gag>g		penta-EF-hand domain containing 1																																				SO:0001651	inframe_deletion	553115				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity	g.chr1:32101045_32101047delGCC		CCDS345.1	1p34	2013-01-10			ENSG00000162517	ENSG00000162517		"""EF-hand domain containing"""	30009	protein-coding gene	gene with protein product	"""peflin"""	610033				10486255, 11883899	Standard	NM_012392		Approved	PEF1A	uc001bth.2	Q9UBV8	OTTHUMG00000003877	ENST00000373703.4:c.101_103delGGC	1.37:g.32101045_32101047delGCC	ENSP00000362807:p.Gly34_Gln35delinsGlu		Somatic				PEF1_ENST00000492061.1_5'UTR|PEF1_ENST00000440872.2_In_Frame_Del_p.GQ34del	p.GQ34del	NM_012392.3	NP_036524.1	WXS	Illumina GAIIx	Phase_I	Q9UBV8	PEF1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0546)	2	123_125	-		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)	34			9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.			In_Frame_Del	DEL	ENST00000373703.4	37	c.101_103delGGC	CCDS345.1																																																																																				0.626	PEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011046.1	NM_012392		8	97						8	97	---	---	---	---
TIE1	7075	broad.mit.edu	37	1	43778814	43778815	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:43778814_43778815insC	ENST00000372476.3	+	13	2015_2016	c.1936_1937insC	c.(1936-1938)gccfs	p.A646fs	TIE1_ENST00000433781.2_Frame_Shift_Ins_p.A291fs	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	646	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGGCCTCCAGCCCCCCGACAC	0.629																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1936-1938)cccfs		tyrosine kinase with immunoglobulin-like and EGF-like domains 1																																				SO:0001589	frameshift_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43778814_43778815insC	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1942dupC	1.37:g.43778820_43778820dupC	ENSP00000361554:p.Ala646fs		Somatic				TIE1_ENST00000433781.2_Frame_Shift_Ins_p.P291fs	p.P646fs	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	WXS	Illumina GAIIx	Phase_I	P35590	TIE1_HUMAN			13	2015_2016	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	646			Fibronectin type-III 3.		B5A949|B5A950	Frame_Shift_Ins	INS	ENST00000372476.3	37	c.1936_1937insC	CCDS482.1																																																																																				0.629	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		9	229						9	229	---	---	---	---
NBPF10	100132406	broad.mit.edu	37	1	145303975	145303976	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:145303975_145303976insC	ENST00000369339.3	+	6	812_813	c.559_560insC	c.(559-561)gccfs	p.A187fs	NBPF10_ENST00000369338.1_Frame_Shift_Ins_p.A187fs|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Frame_Shift_Ins_p.A458fs			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	458	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAATCATCTGCCCCCAGGTAA	0.431																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1372-1374)cccfs		neuroblastoma breakpoint family, member 10																																				SO:0001589	frameshift_variant	100132406							g.chr1:145303975_145303976insC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.564dupC	1.37:g.145303980_145303980dupC	ENSP00000358345:p.Ala187fs		Somatic				NBPF10_ENST00000369339.2_Frame_Shift_Ins_p.P187fs|NBPF10_ENST00000369338.1_Frame_Shift_Ins_p.P187fs|RP11-458D21.5_ENST00000468030.1_3'UTR	p.P458fs	NM_001039703.4	NP_001034792.4	WXS	Illumina GAIIx	Phase_I	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	9	1407_1408	+	all_hematologic(923;0.032)		458					Q5RHC0|Q9NWN6	Frame_Shift_Ins	INS	ENST00000369339.3	37	c.1372_1373insC																																																																																					0.431	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		9	1187						9	1187	---	---	---	---
NBPF14	25832	broad.mit.edu	37	1	148009439	148009439	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:148009439delG	ENST00000369219.1	-	16	1884	c.1868delC	c.(1867-1869)tcafs	p.S623fs				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	623	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AAGACAACCTGAAGGAGTTGA	0.483																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1867-1869)tafs		neuroblastoma breakpoint family, member 14							130.0	266.0	226.0					1																	148009439		1706	4065	5771	SO:0001589	frameshift_variant	25832					cytoplasm		g.chr1:148009439delG	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1868delC	1.37:g.148009439delG	ENSP00000358221:p.Ser623fs		Somatic					p.S623fs			WXS	Illumina GAIIx	Phase_I	Q5TI25	NBPFE_HUMAN			16	1884	-	all_hematologic(923;0.032)		623			NBPF 7.		Q5TI23|Q8IX76|Q9UJI9	Frame_Shift_Del	DEL	ENST00000369219.1	37	c.1868delC																																																																																					0.483	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		15	1997						15	1997	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152191276	152191277	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152191276_152191277insC	ENST00000368801.2	-	3	2903_2904	c.2828_2829insG	c.(2827-2829)ggtfs	p.G943fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	943					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGAGTGTAACCAGAGGACTG	0.569																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2827-2829)gtafs		hornerin																																				SO:0001589	frameshift_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191276_152191277insC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2829dupG	1.37:g.152191278_152191278dupC	ENSP00000357791:p.Gly943fs		Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.V943fs	NM_001009931.1	NP_001009931.1	WXS	Illumina GAIIx	Phase_I	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2903_2904	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		943					Q5DT20|Q5U1F4	Frame_Shift_Ins	INS	ENST00000368801.2	37	c.2828_2829insG	CCDS30859.1																																																																																				0.569	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		20	273						20	273	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152323478	152323479	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152323478_152323479delCA	ENST00000388718.5	-	3	6855_6856	c.6783_6784delTG	c.(6781-6786)agtgaafs	p.SE2261fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2261					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTGCACTTCACTGTCACTGG	0.52																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6781-6786)agaafs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152323478_152323479delCA	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6783_6784delTG	1.37:g.152323478_152323479delCA	ENSP00000373370:p.Ser2261fs		Somatic				FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.SE2261fs	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6855_6856	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2261					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.6783_6784delTG	CCDS30861.1																																																																																				0.520	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		44	1766						44	1766	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152324465	152324466	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152324465_152324466insAT	ENST00000388718.5	-	3	5868_5869	c.5796_5797insAT	c.(5794-5799)catggcfs	p.G1933fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1933					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGGGTGGCCATGTTCAGTGG	0.52																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5794-5799)cagccafs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324465_152324466insAT	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5795_5796dupAT	1.37:g.152324466_152324467dupAT	ENSP00000373370:p.Gly1933fs		Somatic				FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.P1933fs	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5868_5869	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1933					Q9H4U1	Frame_Shift_Ins	INS	ENST00000388718.5	37	c.5796_5797insAT	CCDS30861.1																																																																																				0.520	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		23	801						23	801	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152325663	152325663	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152325663delT	ENST00000388718.5	-	3	4671	c.4599delA	c.(4597-4599)gaafs	p.E1533fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1533					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATTATGGATTCTGACTCTC	0.493																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4597-4599)gafs		filaggrin family member 2							286.0	276.0	280.0					1																	152325663		2203	4300	6503	SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152325663delT	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4599delA	1.37:g.152325663delT	ENSP00000373370:p.Glu1533fs		Somatic				FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.E1533fs	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4671	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1533					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.4599delA	CCDS30861.1																																																																																				0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		17	903						17	903	---	---	---	---
KPRP	448834	broad.mit.edu	37	1	152732263	152732263	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:152732263delT	ENST00000606109.1	+	1	227	c.199delT	c.(199-201)tctfs	p.S67fs	KPRP_ENST00000368773.1_Frame_Shift_Del_p.S67fs			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	67	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATGCCAGTCTCAGACCAC	0.557																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(199-201)ctfs		keratinocyte proline-rich protein							172.0	151.0	158.0					1																	152732263		2203	4300	6503	SO:0001589	frameshift_variant	448834					cytoplasm		g.chr1:152732263delT	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.199delT	1.37:g.152732263delT	ENSP00000475216:p.Ser67fs		Somatic				KPRP_ENST00000606109.1_Frame_Shift_Del_p.S67fs	p.S67fs	NM_001025231.1	NP_001020402.1	WXS	Illumina GAIIx	Phase_I	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	257	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		67			Gln-rich.			Frame_Shift_Del	DEL	ENST00000606109.1	37	c.199delT	CCDS30862.1																																																																																				0.557	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		25	936						25	936	---	---	---	---
RUSC1	23623	broad.mit.edu	37	1	155292753	155292779	+	In_Frame_Del	DEL	GTCCCGCCCCGGCCCCCACCCCCGCCT	GTCCCGCCCCGGCCCCCACCCCCGCCT	-	rs543666835	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr1:155292753_155292779delGTCCCGCCCCGGCCCCCACCCCCGCCT	ENST00000368352.5	+	2	1340_1366	c.1189_1215delGTCCCGCCCCGGCCCCCACCCCCGCCT	c.(1189-1215)gtcccgccccggcccccacccccgcctdel	p.VPPRPPPPP397del	RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368349.4_5'Flank|RUSC1_ENST00000368354.3_In_Frame_Del_p.VPPRPPPPP397del|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000292254.4_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	397					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CTGGGCTTTGGTCCCGCCCCGGCCCCCACCCCCGCCTGTCCCTCCCC	0.718																																						ENST00000368352.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21						c.(1189-1215)del		RUN and SH3 domain containing 1																																				SO:0001651	inframe_deletion	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155292753_155292779delGTCCCGCCCCGGCCCCCACCCCCGCCT	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1189_1215delGTCCCGCCCCGGCCCCCACCCCCGCCT	1.37:g.155292753_155292779delGTCCCGCCCCGGCCCCCACCCCCGCCT	ENSP00000357336:p.Val397_Pro405del		Somatic				RUSC1_ENST00000368354.3_In_Frame_Del_p.VPPRPPPPP397del|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA	p.VPPRPPPPP397del	NM_001105203.1	NP_001098673.1	WXS	Illumina GAIIx	Phase_I	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	1340_1366	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		397					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	In_Frame_Del	DEL	ENST00000368352.5	37	c.1189_1215delGTCCCGCCCCGGCCCCCACCCCCGCCT	CCDS41410.1																																																																																				0.718	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			7	7						7	7	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27684150	27684150	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:27684150delC	ENST00000260570.3	-	22	2531	c.2428delG	c.(2428-2430)gaafs	p.E810fs		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	810					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCGTAGAGTTCCCCCTTGATA	0.567																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(2428-2430)aafs		intraflagellar transport 172 homolog (Chlamydomonas)							117.0	105.0	109.0					2																	27684150		2203	4300	6503	SO:0001589	frameshift_variant	26160				cilium assembly	cilium	binding	g.chr2:27684150delC	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2428delG	2.37:g.27684150delC	ENSP00000260570:p.Glu810fs		Somatic					p.E810fs	NM_015662.1	NP_056477.1	WXS	Illumina GAIIx	Phase_I	Q9UG01	IF172_HUMAN			22	2531	-	Acute lymphoblastic leukemia(172;0.155)		810					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Frame_Shift_Del	DEL	ENST00000260570.3	37	c.2428delG	CCDS1755.1																																																																																				0.567	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		151	250						151	250	---	---	---	---
HTRA2	27429	broad.mit.edu	37	2	74757472	74757473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:74757472_74757473insG	ENST00000258080.3	+	1	969_970	c.339_340insG	c.(340-342)gggfs	p.G114fs	HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.G114fs|HTRA2_ENST00000467961.1_Intron|AUP1_ENST00000377526.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	114					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CGCTGGGCGCTGGGGGGGCAGT	0.718																																						ENST00000258080.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(337-342)gcggggfs		HtrA serine peptidase 2																																				SO:0001589	frameshift_variant	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757472_74757473insG		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.346dupG	2.37:g.74757479_74757479dupG	ENSP00000258080:p.Gly114fs		Somatic				HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.AG113fs|HTRA2_ENST00000467961.1_Intron	p.AG113fs	NM_013247.4	NP_037379.1	WXS	Illumina GAIIx	Phase_I	O43464	HTRA2_HUMAN			1	969_970	+			113					Q9HBZ4|Q9P0Y3|Q9P0Y4	Frame_Shift_Ins	INS	ENST00000258080.3	37	c.339_340insG	CCDS1951.1																																																																																				0.718	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		3	5						3	5	---	---	---	---
DOK1	1796	broad.mit.edu	37	2	74782458	74782459	+	Frame_Shift_Ins	INS	-	-	C	rs200525020		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:74782458_74782459insC	ENST00000233668.5	+	2	907_908	c.238_239insC	c.(238-240)accfs	p.T80fs	DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_Frame_Shift_Ins_p.T80fs|LOXL3_ENST00000393937.2_5'Flank|LOXL3_ENST00000409986.1_5'Flank|LOXL3_ENST00000484369.1_5'Flank|M1AP_ENST00000464686.1_5'Flank|DOK1_ENST00000409429.1_5'UTR|LOXL3_ENST00000264094.3_5'Flank|LOXL3_ENST00000409249.1_5'Flank|LOXL3_ENST00000409549.1_5'Flank	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	80	PH.				cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)	p.E83fs*1(1)		endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CACCGTGGAGACCCCCCCTGAG	0.718																																					Esophageal Squamous(36;520 860 12502 33616 51270)	ENST00000233668.5																			1	Insertion - Frameshift(1)	p.E83fs*1(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(238-240)cccfs		docking protein 1, 62kDa (downstream of tyrosine kinase 1)																																				SO:0001589	frameshift_variant	1796				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	g.chr2:74782458_74782459insC	U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.245dupC	2.37:g.74782465_74782465dupC	ENSP00000233668:p.Thr80fs		Somatic				DOK1_ENST00000409429.1_5'UTR|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_Frame_Shift_Ins_p.P80fs	p.P80fs	NM_001381.3	NP_001372.1	WXS	Illumina GAIIx	Phase_I	Q99704	DOK1_HUMAN			2	907_908	+			80			PH.		O43204|Q53TY2|Q9UHG6	Frame_Shift_Ins	INS	ENST00000233668.5	37	c.238_239insC	CCDS1954.1																																																																																				0.718	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381		7	118						7	118	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163250997	163250997	+	Splice_Site	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:163250997delT	ENST00000332142.5	-	12	2713		c.e12-2			NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7						circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GAGATCAGCCTTTGTTAATGG	0.323																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.e12-2		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						120.0	111.0	114.0					2																	163250997		2203	4298	6501	SO:0001630	splice_region_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163250997delT	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2614-2A>-	2.37:g.163250997delT			Somatic						NM_033272.3	NP_150375.2	WXS	Illumina GAIIx	Phase_I	Q9NS40	KCNH7_HUMAN			12	2713	-								Q53QU4|Q53TB7|Q53TP9|Q8IV15	Splice_Site	DEL	ENST00000332142.5	37		CCDS2219.1																																																																																				0.323	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	Intron	63	132						63	132	---	---	---	---
AC079613.1	0	broad.mit.edu	37	2	189530745	189530748	+	RNA	DEL	TTCC	TTCC	-	rs200339966|rs113436335		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:189530745_189530748delTTCC	ENST00000431708.1	-	0	218																											ttccttccctttccttccttcctt	0.51																																						ENST00000431708.1																			0																																																			0							g.chr2:189530745_189530748delTTCC																													2.37:g.189530753_189530756delTTCC			Somatic								WXS	Illumina GAIIx	Phase_I					0	218	-									RNA	DEL	ENST00000431708.1	37																																																																																						0.510	AC079613.1-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000335738.1			2	4						2	4	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225729789	225729790	+	Frame_Shift_Ins	INS	-	-	A	rs370141899		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr2:225729789_225729790insA	ENST00000258390.7	-	12	1339_1340	c.1272_1273insT	c.(1270-1275)tttgtgfs	p.V425fs	DOCK10_ENST00000409592.3_Frame_Shift_Ins_p.V419fs	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	425					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GCCACACTCACAAAAAAAGGCT	0.401																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(1252-1257)tttgagfs		dedicator of cytokinesis 10																																				SO:0001589	frameshift_variant	55619						GTP binding	g.chr2:225729789_225729790insA	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1273dupT	2.37:g.225729796_225729796dupA	ENSP00000258390:p.Val425fs		Somatic				DOCK10_ENST00000258390.7_Frame_Shift_Ins_p.E425fs	p.E419fs			WXS	Illumina GAIIx	Phase_I	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	12	1367_1368	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	425					B3FL70|O75178|Q9NW06|Q9NXI8	Frame_Shift_Ins	INS	ENST00000258390.7	37	c.1254_1255insT	CCDS46528.1																																																																																				0.401	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			7	314						7	314	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52597506	52597506	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:52597506delT	ENST00000296302.7	-	24	3880	c.3879delA	c.(3877-3879)aaafs	p.K1293fs	PBRM1_ENST00000394830.3_Frame_Shift_Del_p.K1268fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.K1293fs|RNU6ATAC16P_ENST00000408591.1_RNA|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.K1293fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.K1261fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.K1308fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.K1268fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.K1308fs			Q86U86	PB1_HUMAN	polybromo 1	1293					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAACAATTGGTTTTCTGAAAA	0.408			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3781-3783)aafs		polybromo 1							85.0	80.0	81.0					3																	52597506		2203	4300	6503	SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52597506delT	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3879delA	3.37:g.52597506delT	ENSP00000296302:p.Lys1293fs		Somatic				PBRM1_ENST00000296302.7_Frame_Shift_Del_p.K1293fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.K1293fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.K1268fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.K1308fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.K1293fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.K1308fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.K1268fs	p.K1261fs			WXS	Illumina GAIIx	Phase_I	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	23	3785	-			1293			BAH 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37	c.3783delA																																																																																					0.408	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		112	37						112	37	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(13-15)del		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del		Somatic				LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	WXS	Illumina GAIIx	Phase_I	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			9	1754						9	1754	---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129288750	129288751	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr3:129288750_129288751insC	ENST00000324093.4	-	20	3978_3979	c.3800_3801insG	c.(3799-3801)ggcfs	p.G1267fs	PLXND1_ENST00000393239.1_Frame_Shift_Ins_p.G1267fs	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1267					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCGTCTCGCTGCCCCCCAGCTG	0.594																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(3799-3801)gagfs		plexin D1																																				SO:0001589	frameshift_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129288750_129288751insC	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3801dupG	3.37:g.129288756_129288756dupC	ENSP00000317128:p.Gly1267fs		Somatic				PLXND1_ENST00000324093.4_Frame_Shift_Ins_p.E1267fs	p.E1267fs			WXS	Illumina GAIIx	Phase_I	Q9Y4D7	PLXD1_HUMAN			20	3978_3979	-			1267					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Frame_Shift_Ins	INS	ENST00000324093.4	37	c.3800_3801insG	CCDS33854.1																																																																																				0.594	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		7	209						7	209	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1389330	1389331	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr4:1389330_1389331delCA	ENST00000324803.4	+	1	3991_3992	c.1031_1032delCA	c.(1030-1032)tcafs	p.S344fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	344					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.658																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1030-1032)tfs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389330_1389331delCA	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1031_1032delCA	4.37:g.1389332_1389333delCA	ENSP00000323978:p.Ser344fs		Somatic					p.S344fs	NM_175918.3	NP_787114.2	WXS	Illumina GAIIx	Phase_I	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3991_3992	+			344					Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	c.1031_1032delCA	CCDS3349.1																																																																																				0.658	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		9	171						9	171	---	---	---	---
ZDHHC11	79844	broad.mit.edu	37	5	840726	840727	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:840726_840727insG	ENST00000283441.8	-	5	1050_1051	c.667_668insC	c.(667-669)ctgfs	p.L223fs	ZDHHC11_ENST00000424784.2_Frame_Shift_Ins_p.L223fs|ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000511539.1_Frame_Shift_Ins_p.L10fs	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	223						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CACCGGGAACAGGGGGAGGAAC	0.589																																						ENST00000283441.8																			0				haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21						c.(667-669)gttfs		zinc finger, DHHC-type containing 11																																				SO:0001589	frameshift_variant	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:840726_840727insG	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.668dupC	5.37:g.840731_840731dupG	ENSP00000283441:p.Leu223fs		Somatic				ZDHHC11_ENST00000424784.2_Frame_Shift_Ins_p.V223fs|ZDHHC11_ENST00000511539.1_Frame_Shift_Ins_p.V10fs|ZDHHC11_ENST00000503758.2_5'UTR	p.V223fs	NM_024786.2	NP_079062.1	WXS	Illumina GAIIx	Phase_I	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		5	1050_1051	-			223					Q6UWR9	Frame_Shift_Ins	INS	ENST00000283441.8	37	c.667_668insC	CCDS3857.1																																																																																				0.589	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		8	1510						8	1510	---	---	---	---
LINC01331	104310351	broad.mit.edu	37	5	73726286	73726286	+	lincRNA	DEL	A	A	-	rs138317759	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:73726286delA	ENST00000507781.1	-	0	422																											acagccacccaacgtgatgag	0.567													AA|AA|A|deletion	1519	0.303315	0.2874	0.379	5008	,	,		20006	0.253		0.2525	False		,,,				2504	0.3753					ENST00000507781.1																			0																																																			104310351							g.chr5:73726286delA																													5.37:g.73726286delA			Somatic								WXS	Illumina GAIIx	Phase_I					0	422	-									RNA	DEL	ENST00000507781.1	37																																																																																						0.567	CTC-419K13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000368999.1			7	14						7	14	---	---	---	---
RARS	5917	broad.mit.edu	37	5	167946165	167946166	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr5:167946165_167946166delCC	ENST00000231572.3	+	15	2007_2008	c.1953_1954delCC	c.(1951-1956)atcctgfs	p.L652fs	RARS_ENST00000538719.1_Frame_Shift_Del_p.L446fs	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	652					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GGTTTGATATCCTGGGAATAAA	0.396																																						ENST00000231572.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22						c.(1951-1956)attgfs		arginyl-tRNA synthetase																																				SO:0001589	frameshift_variant	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167946165_167946166delCC	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1953_1954delCC	5.37:g.167946165_167946166delCC	ENSP00000231572:p.Leu652fs		Somatic				RARS_ENST00000538719.1_Frame_Shift_Del_p.IL445fs	p.IL651fs	NM_002887.3	NP_002878.2	WXS	Illumina GAIIx	Phase_I	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	15	2007_2008	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	651	I -> T (in Ref. 1; AAB35627).				B2RBS9|Q53GY4|Q9BWA1	Frame_Shift_Del	DEL	ENST00000231572.3	37	c.1953_1954delCC	CCDS4367.1																																																																																				0.396	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		7	156						7	156	---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33152074	33152075	+	Frame_Shift_Ins	INS	-	-	G	rs147527758		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:33152074_33152075insG	ENST00000341947.2	-	8	1193_1194	c.966_967insC	c.(964-969)cccacafs	p.T323fs	COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000374714.1_Frame_Shift_Ins_p.T297fs|COL11A2_ENST00000357486.1_Frame_Shift_Ins_p.T302fs|COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000374713.1_Frame_Shift_Ins_p.T276fs|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000395197.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	323	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGTCGGCTGTGGGGGGGACCT	0.604																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(964-969)cccagcfs		collagen, type XI, alpha 2																																				SO:0001589	frameshift_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33152074_33152075insG	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000341947.2:c.967dupC	6.37:g.33152081_33152081dupG	ENSP00000339915:p.Thr323fs		Somatic				COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000357486.1_Frame_Shift_Ins_p.S302fs|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000374714.1_Frame_Shift_Ins_p.S297fs|COL11A2_ENST00000374713.1_Frame_Shift_Ins_p.S276fs|COL11A2_ENST00000395197.1_Intron	p.S323fs	NM_080680.2	NP_542411.2	WXS	Illumina GAIIx	Phase_I	P13942	COBA2_HUMAN			8	1193_1194	-			323			Nonhelical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Frame_Shift_Ins	INS	ENST00000341947.2	37	c.966_967insC																																																																																					0.604	COL11A2-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				9	333						9	333	---	---	---	---
C6orf222	389384	broad.mit.edu	37	6	36298220	36298221	+	Frame_Shift_Ins	INS	-	-	TCGGC			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:36298220_36298221insTCGGC	ENST00000437635.2	-	2	424_425	c.247_248insGCCGA	c.(247-249)gatfs	p.D83fs		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	83										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGGGAGAAAATCTCCGGTCTCC	0.614																																						ENST00000437635.2																			0				breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						c.(247-249)tttfs		chromosome 6 open reading frame 222																																				SO:0001589	frameshift_variant	389384							g.chr6:36298220_36298221insTCGGC		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.247_248insGCCGA	6.37:g.36298220_36298221insTCGGC	ENSP00000418983:p.Asp83fs		Somatic					p.F83fs	NM_001010903.4	NP_001010903.3	WXS	Illumina GAIIx	Phase_I	P0C671	CF222_HUMAN			2	424_425	-			83					B2RTY8	Frame_Shift_Ins	INS	ENST00000437635.2	37	c.247_248insGCCGA	CCDS34439.1																																																																																				0.614	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		8	240						8	240	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38875864	38875865	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:38875864_38875865insTG	ENST00000359357.3	+	62	9084_9085	c.8830_8831insTG	c.(8830-8832)aagfs	p.K2944fs	DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.K3161fs|DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.K2908fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2944	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGATCAAGGAAGAACTTACAT	0.356																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(8830-8832)gaafs		dynein, axonemal, heavy chain 8																																				SO:0001589	frameshift_variant	1769							g.chr6:38875864_38875865insTG	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	Exception_encountered	6.37:g.38875864_38875865insTG	ENSP00000352312:p.Lys2944fs		Somatic				DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.E3161fs|DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.E2908fs	p.E2944fs			WXS	Illumina GAIIx	Phase_I					62	9084_9085	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Ins	INS	ENST00000359357.3	37	c.8830_8831insTG																																																																																					0.356	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		11	63						11	63	---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128319970	128319971	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr6:128319970_128319971insG	ENST00000368215.3	-	16	2569_2570	c.2570_2571insC	c.(2569-2571)cctfs	p.P857fs	PTPRK_ENST00000368226.4_Frame_Shift_Ins_p.P858fs|PTPRK_ENST00000368213.5_Frame_Shift_Ins_p.P858fs|PTPRK_ENST00000368210.3_Frame_Shift_Ins_p.P870fs|PTPRK_ENST00000368227.3_Frame_Shift_Ins_p.P870fs|PTPRK_ENST00000524481.1_5'Flank|PTPRK_ENST00000532331.1_Frame_Shift_Ins_p.P874fs|PTPRK_ENST00000368207.3_Frame_Shift_Ins_p.P884fs			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	857					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTGTCTGGTAAGGGGATTCCGT	0.49																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2608-2610)ctafs		protein tyrosine phosphatase, receptor type, K																																				SO:0001589	frameshift_variant	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128319970_128319971insG	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2571dupC	6.37:g.128319974_128319974dupG	ENSP00000357198:p.Pro857fs		Somatic				PTPRK_ENST00000368226.4_Frame_Shift_Ins_p.L858fs|PTPRK_ENST00000368210.3_Frame_Shift_Ins_p.L870fs|PTPRK_ENST00000368215.3_Frame_Shift_Ins_p.L857fs|PTPRK_ENST00000368207.3_Frame_Shift_Ins_p.L884fs|PTPRK_ENST00000532331.1_Frame_Shift_Ins_p.L874fs|PTPRK_ENST00000368213.5_Frame_Shift_Ins_p.L858fs	p.L870fs			WXS	Illumina GAIIx	Phase_I	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	17	2975_2976	-			857					B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Frame_Shift_Ins	INS	ENST00000368215.3	37	c.2609_2610insC																																																																																					0.490	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			7	121						7	121	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284885	38284886	+	RNA	INS	-	-	GGGT	rs138091320|rs377514954		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:38284885_38284886insGGGT	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										TATTTGTCAAGgtgtgtgtgtg	0.391																																						ENST00000436911.2																			0																																																			6967							g.chr7:38284885_38284886insGGGT	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284885_38284886insGGGT			Somatic								WXS	Illumina GAIIx	Phase_I					0	330	-									RNA	INS	ENST00000436911.2	37																																																																																						0.391	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		31	188						31	188	---	---	---	---
ASL	435	broad.mit.edu	37	7	65557834	65557835	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr7:65557834_65557835delGC	ENST00000304874.9	+	17	1432_1433	c.1330_1331delGC	c.(1330-1332)gcgfs	p.A444fs	ASL_ENST00000395331.3_Frame_Shift_Del_p.A424fs|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Frame_Shift_Del_p.A418fs|ASL_ENST00000395332.3_Frame_Shift_Del_p.A444fs|AC068533.7_ENST00000450043.1_Intron	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	444					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GGGCGGCACTGCGCGCTCCAGC	0.668																																						ENST00000304874.9																			0				breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18	GRCh37	CM022322	ASL	M		c.(1330-1332)gfs		argininosuccinate lyase	L-Arginine(DB00125)																																			SO:0001589	frameshift_variant	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65557834_65557835delGC		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1330_1331delGC	7.37:g.65557838_65557839delGC	ENSP00000307188:p.Ala444fs		Somatic				ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395332.3_Frame_Shift_Del_p.A444fs|ASL_ENST00000395331.3_Frame_Shift_Del_p.A424fs|ASL_ENST00000380839.4_Frame_Shift_Del_p.A418fs|AC068533.7_ENST00000450043.1_Intron	p.A444fs	NM_000048.3	NP_000039.2	WXS	Illumina GAIIx	Phase_I	P04424	ARLY_HUMAN			17	1432_1433	+			444					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Frame_Shift_Del	DEL	ENST00000304874.9	37	c.1330_1331delGC	CCDS5531.1																																																																																				0.668	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		10	81						10	81	---	---	---	---
GATA4	2626	broad.mit.edu	37	8	11565860	11565861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:11565860_11565861insC	ENST00000335135.4	+	2	597_598	c.39_40insC	c.(40-42)cccfs	p.P14fs	GATA4_ENST00000528712.1_Intron|GATA4_ENST00000532059.1_Frame_Shift_Ins_p.P14fs	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	14					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		ACCACGGGCCGCCCCCCGGTGC	0.733																																						ENST00000335135.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13						c.(37-42)ccccccfs		GATA binding protein 4																																				SO:0001589	frameshift_variant	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11565860_11565861insC	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.45dupC	8.37:g.11565866_11565866dupC	ENSP00000334458:p.Pro14fs		Somatic				GATA4_ENST00000532059.1_Frame_Shift_Ins_p.PP13fs|GATA4_ENST00000528712.1_Intron	p.PP13fs	NM_002052.3	NP_002043.2	WXS	Illumina GAIIx	Phase_I	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	2	597_598	+	all_epithelial(15;0.0839)		13					B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Frame_Shift_Ins	INS	ENST00000335135.4	37	c.39_40insC	CCDS5983.1																																																																																				0.733	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		2	4						2	4	---	---	---	---
FDFT1	2222	broad.mit.edu	37	8	11679330	11679332	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:11679330_11679332delCAT	ENST00000220584.4	+	4	675_677	c.453_455delCAT	c.(451-456)ggcatt>ggt	p.I152del	FDFT1_ENST00000525900.1_In_Frame_Del_p.I145del|FDFT1_ENST00000528812.1_In_Frame_Del_p.I88del|FDFT1_ENST00000538689.1_In_Frame_Del_p.I41del|FDFT1_ENST00000443614.2_Intron|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000528643.1_In_Frame_Del_p.I67del|FDFT1_ENST00000525777.1_In_Frame_Del_p.I67del|FDFT1_ENST00000530664.1_In_Frame_Del_p.I88del	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	152					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		GGAGAATGGGCATTGGGATGGCA	0.429																																						ENST00000220584.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12						c.(451-456)ggt>gg		farnesyl-diphosphate farnesyltransferase 1																																				SO:0001651	inframe_deletion	2222				cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	g.chr8:11679330_11679332delCAT	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.453_455delCAT	8.37:g.11679330_11679332delCAT	ENSP00000220584:p.Ile152del		Somatic				FDFT1_ENST00000525900.1_In_Frame_Del_p.GI144del|FDFT1_ENST00000538689.1_In_Frame_Del_p.GI40del|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000443614.2_Intron|FDFT1_ENST00000525777.1_In_Frame_Del_p.GI66del|FDFT1_ENST00000530664.1_In_Frame_Del_p.GI87del|FDFT1_ENST00000528643.1_In_Frame_Del_p.GI66del|FDFT1_ENST00000528812.1_In_Frame_Del_p.GI87del	p.GI151del	NM_004462.3	NP_004453.3	WXS	Illumina GAIIx	Phase_I	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)	4	675_677	+	all_epithelial(15;0.234)		151					B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	In_Frame_Del	DEL	ENST00000220584.4	37	c.453_455delCAT	CCDS5985.1																																																																																				0.429	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2			7	304						7	304	---	---	---	---
TMEM68	137695	broad.mit.edu	37	8	56675226	56675227	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:56675226_56675227insT	ENST00000434581.2	-	3	491_492	c.292_293insA	c.(292-294)actfs	p.T98fs	TMEM68_ENST00000522576.1_Frame_Shift_Ins_p.T98fs|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000334667.2_Frame_Shift_Ins_p.T98fs|TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000521229.1_Frame_Shift_Ins_p.T98fs			Q96MH6	TMM68_HUMAN	transmembrane protein 68	98						integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			ATCCCACAGAGTTGCCACTGTT	0.401																																						ENST00000434581.2																			0				NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(292-294)tctfs		transmembrane protein 68																																				SO:0001589	frameshift_variant	137695					integral to membrane	acyltransferase activity	g.chr8:56675226_56675227insT	AK056932	CCDS6161.1, CCDS75740.1, CCDS75741.1, CCDS75742.1	8q12.1	2011-12-12			ENSG00000167904	ENSG00000167904			26510	protein-coding gene	gene with protein product						12477932	Standard	XM_005251150		Approved	FLJ32370	uc003xsh.1	Q96MH6	OTTHUMG00000164293	ENST00000434581.2:c.293dupA	8.37:g.56675228_56675228dupT	ENSP00000395204:p.Thr98fs		Somatic				TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000522576.1_Frame_Shift_Ins_p.S98fs|TMEM68_ENST00000521229.1_Frame_Shift_Ins_p.S98fs|TMEM68_ENST00000334667.2_Frame_Shift_Ins_p.S98fs	p.S98fs			WXS	Illumina GAIIx	Phase_I	Q96MH6	TMM68_HUMAN	Epithelial(17;0.000361)|all cancers(17;0.00326)		3	491_492	-			98					Q658X6|Q8WUD2	Frame_Shift_Ins	INS	ENST00000434581.2	37	c.292_293insA																																																																																					0.401	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378137.1	NM_152417		251	362						251	362	---	---	---	---
TG	7038	broad.mit.edu	37	8	133923643	133923657	+	In_Frame_Del	DEL	GTTTCCATTCCTGTC	GTTTCCATTCCTGTC	-	rs147183756		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr8:133923643_133923657delGTTTCCATTCCTGTC	ENST00000220616.4	+	19	4064_4078	c.4024_4038delGTTTCCATTCCTGTC	c.(4024-4038)gtttccattcctgtcdel	p.VSIPV1342del	TG_ENST00000377869.1_In_Frame_Del_p.VSIPV1342del	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1342					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGCACCCTGGTTTCCATTCCTGTCTGCAACAACT	0.488																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4024-4038)del		thyroglobulin																																				SO:0001651	inframe_deletion	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133923643_133923657delGTTTCCATTCCTGTC	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4024_4038delGTTTCCATTCCTGTC	8.37:g.133923643_133923657delGTTTCCATTCCTGTC	ENSP00000220616:p.Val1342_Val1346del		Somatic				TG_ENST00000377869.1_In_Frame_Del_p.VSIPV1342del	p.VSIPV1342del	NM_003235.4	NP_003226.4	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	19	4064_4078	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1342					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	In_Frame_Del	DEL	ENST00000220616.4	37	c.4024_4038delGTTTCCATTCCTGTC	CCDS34944.1																																																																																				0.488	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		171	434						171	434	---	---	---	---
NFIL3	4783	broad.mit.edu	37	9	94172237	94172238	+	Frame_Shift_Ins	INS	-	-	G	rs370930633		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:94172237_94172238insG	ENST00000297689.3	-	2	1173_1174	c.779_780insC	c.(778-780)ccafs	p.P260fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	260					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						CTTGCAGTAGTGGGGGAGAGTG	0.505																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(778-780)cctfs		nuclear factor, interleukin 3 regulated																																				SO:0001589	frameshift_variant	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172237_94172238insG	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.780dupC	9.37:g.94172242_94172242dupG	ENSP00000297689:p.Pro260fs		Somatic					p.P260fs	NM_005384.2	NP_005375.2	WXS	Illumina GAIIx	Phase_I	Q16649	NFIL3_HUMAN			2	1173_1174	-			260					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Frame_Shift_Ins	INS	ENST00000297689.3	37	c.779_780insC	CCDS6690.1																																																																																				0.505	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		13	1168						13	1168	---	---	---	---
HDHD3	81932	broad.mit.edu	37	9	116136194	116136195	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:116136194_116136195insC	ENST00000238379.5	-	2	1337_1338	c.440_441insG	c.(439-441)ggcfs	p.G147fs	HDHD3_ENST00000374180.3_Frame_Shift_Ins_p.G147fs|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	147						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			large_intestine(2)|liver(1)	3						GCAGGCCAAGGCCCCCCAGGAT	0.639																																						ENST00000238379.5																			0				large_intestine(2)|liver(1)	3						c.(439-441)gctfs		haloacid dehalogenase-like hydrolase domain containing 3																																				SO:0001589	frameshift_variant	81932						phosphoglycolate phosphatase activity|protein binding	g.chr9:116136194_116136195insC	AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 158"""	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.441dupG	9.37:g.116136200_116136200dupC	ENSP00000238379:p.Gly147fs		Somatic				HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Frame_Shift_Ins_p.A147fs	p.A147fs	NM_031219.2	NP_112496.1	WXS	Illumina GAIIx	Phase_I	Q9BSH5	HDHD3_HUMAN			2	1337_1338	-			147					B2RD47	Frame_Shift_Ins	INS	ENST00000238379.5	37	c.440_441insG	CCDS6793.1																																																																																				0.639	HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053731.1	NM_031219		10	314						10	314	---	---	---	---
GFI1B	8328	broad.mit.edu	37	9	135865199	135865200	+	Frame_Shift_Ins	INS	-	-	GC	rs375635333		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr9:135865199_135865200insGC	ENST00000339463.3	+	10	1538_1539	c.719_720insGC	c.(718-723)ctcatcfs	p.I241fs	GFI1B_ENST00000372122.1_Frame_Shift_Ins_p.I241fs|GFI1B_ENST00000372123.1_Frame_Shift_Ins_p.I195fs|GFI1B_ENST00000372124.1_Frame_Shift_Ins_p.I195fs|GFI1B_ENST00000450530.1_Frame_Shift_Ins_p.I241fs|GFI1B_ENST00000534944.1_Frame_Shift_Ins_p.I195fs			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	241	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		ACCCACCTGCTCATCCACTCAG	0.629																																						ENST00000339463.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(718-720)catfs		growth factor independent 1B transcription repressor																																				SO:0001589	frameshift_variant	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135865199_135865200insGC	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	Exception_encountered	9.37:g.135865199_135865200insGC	ENSP00000344782:p.Ile241fs		Somatic				GFI1B_ENST00000372122.1_Frame_Shift_Ins_p.H240fs|GFI1B_ENST00000372123.1_Frame_Shift_Ins_p.H194fs|GFI1B_ENST00000534944.1_Frame_Shift_Ins_p.H194fs|GFI1B_ENST00000372124.1_Frame_Shift_Ins_p.H194fs|GFI1B_ENST00000450530.1_Frame_Shift_Ins_p.H240fs	p.H240fs			WXS	Illumina GAIIx	Phase_I	Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	10	1538_1539	+			240			Interaction with ARIH2.|Mediates interaction with GATA1.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Frame_Shift_Ins	INS	ENST00000339463.3	37	c.719_720insGC	CCDS6957.1																																																																																				0.629	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		11	70						11	70	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89692920	89692921	+	Frame_Shift_Ins	INS	-	-	A	rs398123323|rs370795352		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr10:89692920_89692921insA	ENST00000371953.3	+	5	1761_1762	c.404_405insA	c.(403-408)atatgtfs	p.C136fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	136	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> Y (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P3). {ECO:0000269|PubMed:9735393}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.I135fs*44(3)|p.I135K(3)|p.I135fs*45(3)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.I135del(1)|p.I135fs*6(1)|p.A121_F145del(1)|p.I135fs*12(1)|p.I135M(1)|p.T131fs*42(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGTGTAATGATATGTGCATATT	0.386		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		66	Whole gene deletion(37)|Deletion - Frameshift(11)|Insertion - Frameshift(6)|Unknown(5)|Substitution - Missense(4)|Deletion - In frame(2)|Complex - deletion inframe(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.I135fs*44(3)|p.I135K(3)|p.I135fs*45(3)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.I135del(1)|p.I135fs*6(1)|p.A121_F145del(1)|p.I135fs*12(1)|p.I135M(1)|p.T131fs*42(1)|p.F56fs*2(1)	central_nervous_system(16)|prostate(16)|endometrium(8)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|ovary(4)|soft_tissue(1)|urinary_tract(1)|bone(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM064180	PTEN	M		c.(403-405)atgfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692920_89692921insA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.405dupA	10.37:g.89692921_89692921dupA	ENSP00000361021:p.Cys136fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic					p.M135fs	NM_000314.4	NP_000305.3	WXS	Illumina GAIIx	Phase_I	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1761_1762	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	135		I -> V (in BZS).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.404_405insA	CCDS31238.1																																																																																				0.386	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		171	156						171	156	---	---	---	---
OR52E4	390081	broad.mit.edu	37	11	5905552	5905553	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr11:5905552_5905553insC	ENST00000316987.2	+	1	52_53	c.30_31insC	c.(31-33)cccfs	p.P11fs		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACTTCTATCCCCCCTTCTT	0.441																																						ENST00000316987.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(28-33)taccccfs		olfactory receptor, family 52, subfamily E, member 4																																				SO:0001589	frameshift_variant	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5905552_5905553insC	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.36dupC	11.37:g.5905558_5905558dupC	ENSP00000321426:p.Pro11fs		Somatic					p.YP10fs	NM_001005165.1	NP_001005165.1	WXS	Illumina GAIIx	Phase_I	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	52_53	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	10					Q6IFG0	Frame_Shift_Ins	INS	ENST00000316987.2	37	c.30_31insC	CCDS31401.1																																																																																				0.441	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		10	614						10	614	---	---	---	---
DNM1L	10059	broad.mit.edu	37	12	32863894	32863894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:32863894delT	ENST00000549701.1	+	5	475	c.401delT	c.(400-402)attfs	p.I134fs	DNM1L_ENST00000547312.1_Frame_Shift_Del_p.I134fs|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000553257.1_Frame_Shift_Del_p.I147fs|DNM1L_ENST00000358214.5_Frame_Shift_Del_p.I147fs|DNM1L_ENST00000452533.2_Frame_Shift_Del_p.I134fs|DNM1L_ENST00000381000.4_Frame_Shift_Del_p.I147fs|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000266481.6_Frame_Shift_Del_p.I134fs			O00429	DNM1L_HUMAN	dynamin 1-like	134	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CATCTTAAGATTTTTTCACCC	0.318																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(400-402)atfs		dynamin 1-like							108.0	101.0	103.0					12																	32863894		2203	4300	6503	SO:0001589	frameshift_variant	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32863894delT	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.401delT	12.37:g.32863894delT	ENSP00000450399:p.Ile134fs		Somatic				DNM1L_ENST00000549701.1_Frame_Shift_Del_p.I134fs|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000358214.5_Frame_Shift_Del_p.I147fs|DNM1L_ENST00000547312.1_Frame_Shift_Del_p.I134fs|DNM1L_ENST00000266481.6_Frame_Shift_Del_p.I134fs|DNM1L_ENST00000381000.4_Frame_Shift_Del_p.I147fs|DNM1L_ENST00000553257.1_Frame_Shift_Del_p.I147fs	p.I134fs	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	WXS	Illumina GAIIx	Phase_I	O00429	DNM1L_HUMAN			5	565	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		134			GTPase domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Frame_Shift_Del	DEL	ENST00000549701.1	37	c.401delT	CCDS8729.1																																																																																				0.318	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		91	121						91	121	---	---	---	---
PFKM	5213	broad.mit.edu	37	12	48537576	48537576	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:48537576delT	ENST00000312352.7	+	19	1898	c.1859delT	c.(1858-1860)gtgfs	p.V620fs	PFKM_ENST00000395233.2_Frame_Shift_Del_p.V589fs|PFKM_ENST00000359794.5_Frame_Shift_Del_p.V620fs|PFKM_ENST00000547587.1_Frame_Shift_Del_p.V620fs|PFKM_ENST00000551804.1_Frame_Shift_Del_p.V589fs|PFKM_ENST00000340802.6_Frame_Shift_Del_p.V691fs	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	620	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AAAACAACTGTGAAAAGGGGC	0.393																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2071-2073)ggfs		phosphofructokinase, muscle							165.0	153.0	157.0					12																	48537576		2203	4300	6503	SO:0001589	frameshift_variant	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48537576delT	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1859delT	12.37:g.48537576delT	ENSP00000309438:p.Val620fs		Somatic				PFKM_ENST00000551804.1_Frame_Shift_Del_p.V589fs|PFKM_ENST00000395233.2_Frame_Shift_Del_p.V589fs|PFKM_ENST00000312352.7_Frame_Shift_Del_p.V620fs|PFKM_ENST00000547587.1_Frame_Shift_Del_p.V620fs|PFKM_ENST00000359794.5_Frame_Shift_Del_p.V620fs	p.V691fs	NM_001166686.1	NP_001160158.1	WXS	Illumina GAIIx	Phase_I	P08237	K6PF_HUMAN			21	2296	+			620					J3KNX3|Q16814|Q16815|Q6ZTT1	Frame_Shift_Del	DEL	ENST00000312352.7	37	c.2072delT	CCDS8760.1																																																																																				0.393	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		7	444						7	444	---	---	---	---
KRT5	3852	broad.mit.edu	37	12	52910538	52910539	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:52910538_52910539delTT	ENST00000252242.4	-	7	1711_1712	c.1321_1322delAA	c.(1321-1323)aagfs	p.K441fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	441	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGCTTGGCCTTCTGCAGGGCC	0.639																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(1321-1323)gfs		keratin 5																																				SO:0001589	frameshift_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52910538_52910539delTT		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1321_1322delAA	12.37:g.52910538_52910539delTT	ENSP00000252242:p.Lys441fs		Somatic					p.K441fs	NM_000424.3	NP_000415.2	WXS	Illumina GAIIx	Phase_I	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1711_1712	-			441			Coil 2.|Rod.		Q6PI71|Q6UBJ0|Q8TA91	Frame_Shift_Del	DEL	ENST00000252242.4	37	c.1321_1322delAA	CCDS8830.1																																																																																				0.639	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			29	727						29	727	---	---	---	---
NPFF	8620	broad.mit.edu	37	12	53898183	53898184	+	IGR	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr12:53898183_53898184insC	ENST00000267017.3	-	0	592				TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.SP51fs|TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.SP121fs|TARBP2_ENST00000266987.2_Frame_Shift_Ins_p.SP142fs|TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.SP121fs	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						TCCTTCAGGAGCCCCCCCATGG	0.564																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(424-426)accfs		TAR (HIV-1) RNA binding protein 2																																				SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53898183_53898184insC	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53898190_53898190dupC			Somatic				TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.T121fs|TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.T51fs|TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.T121fs	p.T142fs	NM_134323.1	NP_599150.1	WXS	Illumina GAIIx	Phase_I	Q15633	TRBP2_HUMAN			5	908_909	+			142					Q3SXL4	Frame_Shift_Ins	INS	ENST00000267017.3	37	c.425_426insC	CCDS8862.1																																																																																				0.564	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		9	169						9	169	---	---	---	---
IRF9	10379	broad.mit.edu	37	14	24633132	24633134	+	In_Frame_Del	DEL	AGC	AGC	-	rs199740615		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:24633132_24633134delAGC	ENST00000396864.3	+	5	828_830	c.541_543delAGC	c.(541-543)agcdel	p.S187del	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_In_Frame_Del_p.S85del	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	187	Poly-Ser.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGACATTGGGagcagcagcagca	0.567																																						ENST00000396864.3																			0				NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(541-543)del		interferon regulatory factor 9				167,4097		0,167,1965						-2.5	0.0			53	342,7912		0,342,3785	no	coding	IRF9	NM_006084.4		0,509,5750	A1A1,A1R,RR		4.1434,3.9165,4.0661				509,12009				SO:0001651	inframe_deletion	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24633132_24633134delAGC	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.541_543delAGC	14.37:g.24633141_24633143delAGC	ENSP00000380073:p.Ser187del		Somatic				RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_In_Frame_Del_p.S85del	p.S187del	NM_006084.4	NP_006075.3	WXS	Illumina GAIIx	Phase_I	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	5	828_830	+			187			Poly-Ser.		D3DS61	In_Frame_Del	DEL	ENST00000396864.3	37	c.541_543delAGC	CCDS9615.1																																																																																				0.567	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			8	462						8	462	---	---	---	---
SNHG23	100507242	broad.mit.edu	37	14	101429467	101429468	+	lincRNA	INS	-	-	A			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr14:101429467_101429468insA	ENST00000556637.1	+	0	1848				AL132709.8_ENST00000423708.3_lincRNA|SNORD114-7_ENST00000362520.1_RNA|SNORD114-9_ENST00000364370.1_RNA																							CTGAGGTTAGTACCTAGACAGA	0.381																																						ENST00000423708.3																			0																																																			767583							g.chr14:101429467_101429468insA																													14.37:g.101429468_101429468dupA			Somatic				SNORD114-7_ENST00000362520.1_RNA				WXS	Illumina GAIIx	Phase_I					0	736	+									RNA	INS	ENST00000556637.1	37																																																																																						0.381	AL132709.5-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414510.1			34	26						34	26	---	---	---	---
RASGRP1	10125	broad.mit.edu	37	15	38852203	38852203	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:38852203delT	ENST00000310803.5	-	2	216	c.39delA	c.(37-39)aaafs	p.K13fs	RASGRP1_ENST00000558164.1_Frame_Shift_Del_p.K13fs|RASGRP1_ENST00000561180.1_Frame_Shift_Del_p.K64fs|RASGRP1_ENST00000559830.1_Frame_Shift_Del_p.K13fs|RASGRP1_ENST00000539159.1_5'UTR|RASGRP1_ENST00000450598.2_Frame_Shift_Del_p.K13fs	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	13					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CATGGGAAGGTTTCCTGGGGA	0.552																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(37-39)aafs		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							34.0	38.0	37.0					15																	38852203		1961	4144	6105	SO:0001589	frameshift_variant	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38852203delT	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.39delA	15.37:g.38852203delT	ENSP00000310244:p.Lys13fs		Somatic				RASGRP1_ENST00000539159.1_5'UTR|RASGRP1_ENST00000450598.2_Frame_Shift_Del_p.K13fs|RASGRP1_ENST00000561180.1_Frame_Shift_Del_p.K64fs|RASGRP1_ENST00000558164.1_Frame_Shift_Del_p.K13fs|RASGRP1_ENST00000559830.1_Frame_Shift_Del_p.K13fs	p.K13fs	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	WXS	Illumina GAIIx	Phase_I	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	2	216	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	13					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Frame_Shift_Del	DEL	ENST00000310803.5	37	c.39delA	CCDS45222.1																																																																																				0.552	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		19	23						19	23	---	---	---	---
TTBK2	146057	broad.mit.edu	37	15	43044816	43044817	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:43044816_43044817insT	ENST00000267890.6	-	14	2735_2736	c.2627_2628insA	c.(2626-2628)aatfs	p.N876fs		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	876					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TAGATATCTTATTTTTTTGCAT	0.406																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(2626-2628)aaafs		tau tubulin kinase 2																																				SO:0001589	frameshift_variant	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43044816_43044817insT	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2628dupA	15.37:g.43044823_43044823dupT	ENSP00000267890:p.Asn876fs		Somatic					p.K876fs	NM_173500.3	NP_775771.3	WXS	Illumina GAIIx	Phase_I	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	14	2735_2736	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	876					O94932|Q6ZN52|Q8IVV1	Frame_Shift_Ins	INS	ENST00000267890.6	37	c.2627_2628insA	CCDS42029.1																																																																																				0.406	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		7	419						7	419	---	---	---	---
TUBGCP4	27229	broad.mit.edu	37	15	43687861	43687862	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:43687861_43687862insT	ENST00000260383.7	+	11	1400_1401	c.1146_1147insT	c.(1147-1149)ccafs	p.P383fs	TUBGCP4_ENST00000399460.3_Frame_Shift_Ins_p.P247fs|TUBGCP4_ENST00000564079.1_Frame_Shift_Ins_p.P383fs			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	383					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGTTGAAAACACCACCCACTGC	0.431																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(1144-1149)accaccfs		tubulin, gamma complex associated protein 4																																				SO:0001589	frameshift_variant	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43687861_43687862insT	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	Exception_encountered	15.37:g.43687861_43687862insT	ENSP00000260383:p.Pro383fs		Somatic				TUBGCP4_ENST00000260383.7_Frame_Shift_Ins_p.T383fs|TUBGCP4_ENST00000399460.3_Frame_Shift_Ins_p.T247fs	p.T383fs	NM_014444.2	NP_055259.2	WXS	Illumina GAIIx	Phase_I	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	11	1386_1387	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	383					B3KNK6|Q969X3|Q9NVF0	Frame_Shift_Ins	INS	ENST00000260383.7	37	c.1146_1147insT																																																																																					0.431	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		16	1872						16	1872	---	---	---	---
SECISBP2L	9728	broad.mit.edu	37	15	49292068	49292069	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr15:49292068_49292069insT	ENST00000559471.1	-	16	2627_2628	c.2364_2365insA	c.(2362-2367)cctgttfs	p.V789fs	SECISBP2L_ENST00000559122.1_5'Flank|SECISBP2L_ENST00000261847.3_Frame_Shift_Ins_p.V744fs	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	789							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ACTACGCTAACAGGAACCAGCT	0.45																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(2362-2367)ccttagfs		SECIS binding protein 2-like																																				SO:0001589	frameshift_variant	9728							g.chr15:49292068_49292069insT	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2364_2365insA	15.37:g.49292068_49292069insT	ENSP00000453854:p.Val789fs		Somatic				SECISBP2L_ENST00000261847.3_Frame_Shift_Ins_p.*744fs	p.*789fs	NM_001193489.1	NP_001180418.1	WXS	Illumina GAIIx	Phase_I	Q93073	SBP2L_HUMAN			16	2627_2628	-			789					Q8N767	Frame_Shift_Ins	INS	ENST00000559471.1	37	c.2364_2365insA	CCDS53942.1																																																																																				0.450	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		159	341						159	341	---	---	---	---
NPIPB11	728888	broad.mit.edu	37	16	29395346	29395346	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:29395346delT	ENST00000524087.1	-	8	981	c.907delA	c.(907-909)acafs	p.T303fs	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	303	Pro-rich.					integral component of membrane (GO:0016021)											TCGGGAGGTGTCTTGAGATTA	0.572																																						ENST00000524087.1																			0											c.(907-909)cafs		nuclear pore complex interacting protein family, member B11																																				SO:0001589	frameshift_variant	728888							g.chr16:29395346delT			16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.907delA	16.37:g.29395346delT	ENSP00000430853:p.Thr303fs		Somatic				SNX29P2_ENST00000398878.3_lincRNA	p.T303fs			WXS	Illumina GAIIx	Phase_I					8	981	-									Frame_Shift_Del	DEL	ENST00000524087.1	37	c.907delA																																																																																					0.572	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000374094.1	XM_002343430		17	67						17	67	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30715515	30715516	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:30715515_30715516insC	ENST00000262518.4	+	4	570_571	c.185_186insC	c.(184-189)ggccccfs	p.GP62fs	RNU6-1043P_ENST00000410355.1_RNA|SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.GP62fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.GP62fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	62					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGACCTCCAGGCCCCCCAGATG	0.624																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(184-186)gccfs		Snf2-related CREBBP activator protein																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30715515_30715516insC	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.191dupC	16.37:g.30715521_30715521dupC	ENSP00000262518:p.Gly62fs		Somatic				SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.A62fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.A62fs	p.A62fs	NM_006662.2	NP_006653.2	WXS	Illumina GAIIx	Phase_I	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		4	570_571	+			62					B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Ins	INS	ENST00000262518.4	37	c.185_186insC	CCDS10689.2																																																																																				0.624	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		7	215						7	215	---	---	---	---
KIAA0895L	653319	broad.mit.edu	37	16	67213789	67213790	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr16:67213789_67213790insC	ENST00000290881.7	-	4	1568_1569	c.642_643insG	c.(640-645)gggcagfs	p.Q215fs	KIAA0895L_ENST00000561621.1_Frame_Shift_Ins_p.Q215fs|KIAA0895L_ENST00000563902.1_Frame_Shift_Ins_p.Q215fs|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	215										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GTGAGCAGCTGCCCCCCAGTGG	0.569																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(640-645)ggagctfs		KIAA0895-like																																				SO:0001589	frameshift_variant	653319							g.chr16:67213789_67213790insC	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.643dupG	16.37:g.67213795_67213795dupC	ENSP00000290881:p.Gln215fs		Somatic				KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Frame_Shift_Ins_p.A215fs|KIAA0895L_ENST00000561621.1_Frame_Shift_Ins_p.A215fs	p.A215fs			WXS	Illumina GAIIx	Phase_I	Q68EN5	K895L_HUMAN			4	1568_1569	-			215					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Frame_Shift_Ins	INS	ENST00000290881.7	37	c.642_643insG	CCDS42177.1																																																																																				0.569	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		8	188						8	188	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578396	7578397	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:7578396_7578397insT	ENST00000269305.4	-	5	722_723	c.533_534insA	c.(532-534)cacfs	p.H178fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.H178fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.H178fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Frame_Shift_Ins_p.H178fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.H178fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.H178fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	178	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma). {ECO:0000269|PubMed:1303181}.|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P177_C182delPHHERC(8)|p.H179Y(8)|p.0?(8)|p.H178P(6)|p.H178Q(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.H178fs*3(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.H178H(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGCGCTCATGGTGGGGGCAGCG	0.644		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		81	Deletion - In frame(26)|Substitution - Missense(20)|Deletion - Frameshift(18)|Whole gene deletion(8)|Insertion - Frameshift(3)|Complex - deletion inframe(3)|Substitution - coding silent(2)|Complex - compound substitution(1)	p.P177_C182delPHHERC(8)|p.H179Y(8)|p.0?(8)|p.H178P(6)|p.H178Q(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.H178fs*3(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.H178H(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	large_intestine(18)|upper_aerodigestive_tract(12)|breast(11)|skin(9)|central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|oesophagus(5)|bone(4)|ovary(3)|lung(2)|pancreas(2)|stomach(1)|thymus(1)|biliary_tract(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(532-534)ccafs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578396_7578397insT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.534dupA	17.37:g.7578397_7578397dupT	ENSP00000269305:p.His178fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000269305.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000574684.1_5'UTR	p.P178fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	665_666	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	178		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.533_534insA	CCDS11118.1																																																																																				0.644	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		113	83						113	83	---	---	---	---
DBF4B	80174	broad.mit.edu	37	17	42824551	42824552	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:42824551_42824552delCT	ENST00000315005.3	+	11	1069_1070	c.931_932delCT	c.(931-933)ctcfs	p.L311fs	DBF4B_ENST00000393547.2_Frame_Shift_Del_p.L311fs	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	311					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CTTCGAGGAGCTCCATGTGGTG	0.589																																						ENST00000315005.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(931-933)cfs		DBF4 homolog B (S. cerevisiae)																																				SO:0001589	frameshift_variant	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42824551_42824552delCT	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.931_932delCT	17.37:g.42824551_42824552delCT	ENSP00000323663:p.Leu311fs		Somatic				DBF4B_ENST00000393547.2_Frame_Shift_Del_p.L311fs	p.L311fs	NM_145663.2	NP_663696.1	WXS	Illumina GAIIx	Phase_I	Q8NFT6	DBF4B_HUMAN			11	1069_1070	+		Prostate(33;0.0322)	311					D3DX56|Q8TEX0|Q96B19|Q9H912	Frame_Shift_Del	DEL	ENST00000315005.3	37	c.931_932delCT	CCDS11485.1																																																																																				0.589	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		12	197						12	197	---	---	---	---
USP36	57602	broad.mit.edu	37	17	76799860	76799861	+	Frame_Shift_Ins	INS	-	-	G	rs3088040|rs537129179	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr17:76799860_76799861insG	ENST00000542802.3	-	16	2859_2860	c.2416_2417insC	c.(2416-2418)cagfs	p.Q806fs	USP36_ENST00000449938.2_Intron|USP36_ENST00000312010.6_Frame_Shift_Ins_p.Q806fs			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	806			Q -> R (in dbSNP:rs3088040). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			AGAGGGGCTCTGGGGGGGCTCA	0.629																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(2416-2418)gagfs		ubiquitin specific peptidase 36																																				SO:0001589	frameshift_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76799860_76799861insG	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2417dupC	17.37:g.76799867_76799867dupG	ENSP00000441214:p.Gln806fs		Somatic				USP36_ENST00000542802.2_Frame_Shift_Ins_p.E806fs|USP36_ENST00000449938.2_Intron	p.E806fs	NM_025090.3	NP_079366.3	WXS	Illumina GAIIx	Phase_I	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		16	2740_2741	-			806		Q -> R (in dbSNP:rs3088040).			Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Frame_Shift_Ins	INS	ENST00000542802.3	37	c.2416_2417insC	CCDS32755.1																																																																																				0.629	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		8	220						8	220	---	---	---	---
DENND1C	79958	broad.mit.edu	37	19	6468935	6468936	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:6468935_6468936insC	ENST00000381480.2	-	20	1548_1549	c.1436_1437insG	c.(1435-1437)ggcfs	p.G479fs	DENND1C_ENST00000543576.1_Frame_Shift_Ins_p.G435fs	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	479					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCCTCAGAGAGCCCCCCCTCTG	0.624																																						ENST00000381480.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(1435-1437)gtcfs		DENN/MADD domain containing 1C																																				SO:0001589	frameshift_variant	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6468935_6468936insC	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.1437dupG	19.37:g.6468942_6468942dupC	ENSP00000370889:p.Gly479fs		Somatic				DENND1C_ENST00000543576.1_Frame_Shift_Ins_p.V435fs	p.V479fs	NM_024898.2	NP_079174.2	WXS	Illumina GAIIx	Phase_I	Q8IV53	DEN1C_HUMAN			20	1548_1549	-			479					B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Frame_Shift_Ins	INS	ENST00000381480.2	37	c.1436_1437insG	CCDS45938.1																																																																																				0.624	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		7	52						7	52	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9048248	9048248	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:9048248delG	ENST00000397910.4	-	5	33586	c.33383delC	c.(33382-33384)tcafs	p.S11128fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11130	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGGCCATTGAAGGTGTGGT	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(33382-33384)tafs		mucin 16, cell surface associated							87.0	79.0	82.0					19																	9048248		1910	4122	6032	SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048248delG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33383delC	19.37:g.9048248delG	ENSP00000381008:p.Ser11128fs		Somatic					p.S11128fs	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			5	33586	-			11130			Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	c.33383delC	CCDS54212.1																																																																																				0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	795						10	795	---	---	---	---
ZNF846	162993	broad.mit.edu	37	19	9869150	9869150	+	Frame_Shift_Del	DEL	T	T	-	rs118035535	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:9869150delT	ENST00000397902.2	-	6	1016	c.603delA	c.(601-603)aaafs	p.K201fs	ZNF846_ENST00000588267.1_Frame_Shift_Del_p.K72fs|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Frame_Shift_Del_p.K72fs	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCCAACAGTCTTTGCATTCAC	0.358																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(601-603)aafs		zinc finger protein 846							122.0	126.0	125.0					19																	9869150		1968	4170	6138	SO:0001589	frameshift_variant	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9869150delT	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.603delA	19.37:g.9869150delT	ENSP00000380999:p.Lys201fs		Somatic				ZNF846_ENST00000592859.1_Frame_Shift_Del_p.K72fs|ZNF846_ENST00000588267.1_Frame_Shift_Del_p.K72fs|ZNF846_ENST00000586293.1_3'UTR	p.K201fs	NM_001077624.1	NP_001071092.1	WXS	Illumina GAIIx	Phase_I	Q147U1	ZN846_HUMAN			6	1016	-			201					A8K0H1|B3KUP1	Frame_Shift_Del	DEL	ENST00000397902.2	37	c.603delA	CCDS42496.1																																																																																				0.358	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		54	57						54	57	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16860826	16860827	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:16860826_16860827insC	ENST00000552788.1	+	4	1373_1374	c.1373_1374insC	c.(1372-1377)tgccccfs	p.CP458fs	NWD1_ENST00000379808.3_Frame_Shift_Ins_p.CP458fs|NWD1_ENST00000524140.2_Frame_Shift_Ins_p.CP458fs|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.CP323fs|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.CP458fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.CP252fs			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	458	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTCTCAACTGCCCCCCGAGGG	0.629																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1372-1374)tccfs		NACHT and WD repeat domain containing 1																																				SO:0001589	frameshift_variant	284434						ATP binding	g.chr19:16860826_16860827insC	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1379dupC	19.37:g.16860832_16860832dupC	ENSP00000447224:p.Cys458fs		Somatic				NWD1_ENST00000379808.3_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000552788.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.S323fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.S252fs	p.S458fs	NM_001007525.3	NP_001007526.3	WXS	Illumina GAIIx	Phase_I	Q149M9	NWD1_HUMAN			6	1791_1792	+			458			NACHT.		C9J021|Q68CT3	Frame_Shift_Ins	INS	ENST00000552788.1	37	c.1373_1374insC																																																																																					0.629	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		9	327						9	327	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17013675	17013676	+	Splice_Site	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:17013675_17013676insG	ENST00000443236.1	-	35	4643		c.e35-2			NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8							extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GACATCAATCTGGGGGGTGTTG	0.634																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.e35-2		C3 and PZP-like, alpha-2-macroglobulin domain containing 8																																				SO:0001630	splice_region_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17013675_17013676insG	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4612-2->C	19.37:g.17013681_17013681dupG			Somatic						NM_015692.2	NP_056507.2	WXS	Illumina GAIIx	Phase_I	Q8IZJ3	CPMD8_HUMAN			35	4643	-								Q8NC09|Q9ULD7	Splice_Site	INS	ENST00000443236.1	37		CCDS42519.1																																																																																				0.634	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	Intron	7	232						7	232	---	---	---	---
C19orf47	126526	broad.mit.edu	37	19	40834398	40834399	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:40834398_40834399insG	ENST00000582783.1	-	6	483_484	c.471_472insC	c.(469-474)cccaggfs	p.R158fs	C19orf47_ENST00000392035.2_Frame_Shift_Ins_p.R91fs	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	158						nucleus (GO:0005634)				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TCCGGGCGCCTGGGGGGTGTGC	0.614																																						ENST00000582783.1																			0				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(469-474)ccggcgfs		chromosome 19 open reading frame 47																																				SO:0001589	frameshift_variant	126526							g.chr19:40834398_40834399insG	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.472dupC	19.37:g.40834404_40834404dupG	ENSP00000463159:p.Arg158fs		Somatic				C19orf47_ENST00000392035.2_Frame_Shift_Ins_p.A91fs	p.A158fs	NM_001256440.1	NP_001243369.1	WXS	Illumina GAIIx	Phase_I	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		6	483_484	-			158					Q8IZ33|Q8N0V9	Frame_Shift_Ins	INS	ENST00000582783.1	37	c.471_472insC	CCDS58662.1																																																																																				0.614	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		7	682						7	682	---	---	---	---
BCKDHA	593	broad.mit.edu	37	19	41932446	41932447	+	IGR	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:41932446_41932447insC	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000601379.1_Intron|B3GNT8_ENST00000321702.2_Frame_Shift_Ins_p.L80fs|CTC-435M10.6_ENST00000598887.1_RNA	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						AGGGACCCCAGCCGCCACTGCT	0.688																																						ENST00000321702.2																			0				cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						c.(235-240)cgtgggfs		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8																																				SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41932446_41932447insC	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932448_41932448dupC			Somatic				B3GNT8_ENST00000601379.1_Intron	p.G80fs	NM_198540.2	NP_940942.1	WXS	Illumina GAIIx	Phase_I	Q7Z7M8	B3GN8_HUMAN			3	690_691	-			80					B4DP47|E7EW46|Q16034|Q16472	Frame_Shift_Ins	INS	ENST00000269980.2	37	c.237_238insG	CCDS12581.1																																																																																				0.688	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		4	6						4	6	---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C	rs557448259|rs568951683	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)gtcfs	p.V333fs	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.53													CCCCCCC|CCCCCCC|CCCCCCCC|insertion	5	0.000998403	0.0	0.0	5008	,	,		18990	0.003		0.001	False		,,,				2504	0.001					ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(997-999)ctgfs		napsin A aspartic peptidase																																				SO:0001589	frameshift_variant	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50862305_50862306insC	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.998dupG	19.37:g.50862312_50862312dupC	ENSP00000253719:p.Val333fs		Somatic				NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.L333fs	NM_004851.1	NP_004842.1	WXS	Illumina GAIIx	Phase_I	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	8	1205_1206	-		all_neural(266;0.057)	333					Q8WWD9	Frame_Shift_Ins	INS	ENST00000253719.2	37	c.997_998insG	CCDS12794.1																																																																																				0.530	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		7	194						7	194	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29624034	29624035	+	Intron	INS	-	-	G	rs201117819		TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:29624034_29624035insG	ENST00000278882.3	+	4	446				FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I25fs|FRG1B_ENST00000358464.4_Intron			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTTCTCCAATATTGATGAGGGC	0.287																																						ENST00000439954.2																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(73-75)tgafs																																						SO:0001627	intron_variant	284802							g.chr20:29624034_29624035insG			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.67-8->G	20.37:g.29624034_29624035insG			Somatic				FRG1B_ENST00000278882.3_Intron|FRG1B_ENST00000358464.4_Intron	p.*25fs			WXS	Illumina GAIIx	Phase_I					4	419_420	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.73_74insG																																																																																					0.287	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		2	4						2	4	---	---	---	---
SOGA1	140710	broad.mit.edu	37	20	35443591	35443592	+	Frame_Shift_Ins	INS	-	-	G	rs561942033	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:35443591_35443592insG	ENST00000357779.3	-	5	1865_1866	c.1539_1540insC	c.(1537-1542)cccttgfs	p.PL513fs	SOGA1_ENST00000279034.6_Frame_Shift_Ins_p.PL513fs|SOGA1_ENST00000237536.4_Frame_Shift_Ins_p.PL751fs|SOGA1_ENST00000456801.2_Frame_Shift_Ins_p.PL354fs			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	513					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TGGGAGCCCAAGGGGGGCAGTG	0.535																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(2251-2256)cctgggfs		suppressor of glucose, autophagy associated 1																																				SO:0001589	frameshift_variant	140710							g.chr20:35443591_35443592insG	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1540dupC	20.37:g.35443597_35443597dupG	ENSP00000350424:p.Pro513fs		Somatic				SOGA1_ENST00000456801.2_Frame_Shift_Ins_p.G355fs|SOGA1_ENST00000357779.3_Frame_Shift_Ins_p.G514fs|SOGA1_ENST00000279034.5_Frame_Shift_Ins_p.G514fs	p.G752fs	NM_080627.2	NP_542194.2	WXS	Illumina GAIIx	Phase_I	O94964	K0889_HUMAN			5	2594_2595	-			514					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Frame_Shift_Ins	INS	ENST00000357779.3	37	c.2253_2254insC																																																																																					0.535	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		7	636						7	636	---	---	---	---
PARD6B	84612	broad.mit.edu	37	20	49366718	49366719	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:49366718_49366719delAC	ENST00000371610.2	+	3	1055_1056	c.812_813delAC	c.(811-813)aacfs	p.N271fs	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	271					axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TCTACTGATAACAGCCTTCTTG	0.47																																						ENST00000371610.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						c.(811-813)afs		par-6 family cell polarity regulator beta																																				SO:0001589	frameshift_variant	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49366718_49366719delAC	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"""par-6 (partitioning defective 6, C.elegans) homolog beta"", ""par-6 partitioning defective 6 homolog beta (C. elegans)"""			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.812_813delAC	20.37:g.49366718_49366719delAC	ENSP00000360672:p.Asn271fs		Somatic				PARD6B_ENST00000396039.1_Intron	p.N271fs	NM_032521.2	NP_115910.1	WXS	Illumina GAIIx	Phase_I	Q9BYG5	PAR6B_HUMAN			3	1055_1056	+			271					A2A2A7|Q9Y510	Frame_Shift_Del	DEL	ENST00000371610.2	37	c.812_813delAC	CCDS33485.1																																																																																				0.470	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		119	214						119	214	---	---	---	---
YTHDF1	54915	broad.mit.edu	37	20	61833738	61833738	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr20:61833738delT	ENST00000370339.3	-	4	1895	c.1554delA	c.(1552-1554)caafs	p.Q518fs	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Frame_Shift_Del_p.Q468fs	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	518	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTTTCAGCACTTGCTTGGCTT	0.532																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1552-1554)cafs		YTH domain family, member 1							176.0	135.0	149.0					20																	61833738		2203	4300	6503	SO:0001589	frameshift_variant	54915							g.chr20:61833738delT	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1554delA	20.37:g.61833738delT	ENSP00000359364:p.Gln518fs		Somatic				YTHDF1_ENST00000370333.4_Frame_Shift_Del_p.Q468fs|YTHDF1_ENST00000370334.4_Intron	p.Q518fs	NM_017798.3	NP_060268.2	WXS	Illumina GAIIx	Phase_I	Q9BYJ9	YTHD1_HUMAN			4	1895	-			518			YTH.		Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Frame_Shift_Del	DEL	ENST00000370339.3	37	c.1554delA	CCDS13511.1																																																																																				0.532	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		9	112						9	112	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11038792	11038793	+	RNA	INS	-	-	T	rs60506963|rs8175341	byFrequency	TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr21:11038792_11038793insT	ENST00000470054.1	-	0	1410_1411							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCCATGCCAGTTTTTTGGAGT	0.416																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038792_11038793insT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038798_11038798dupT			Somatic								WXS	Illumina GAIIx	Phase_I			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1410_1411	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.416	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	962						7	962	---	---	---	---
PSMG1	8624	broad.mit.edu	37	21	40550409	40550409	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr21:40550409delT	ENST00000331573.3	-	5	1086	c.621delA	c.(619-621)gaafs	p.E207fs	PSMG1_ENST00000380900.2_Frame_Shift_Del_p.E186fs	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	207					cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				TATTCGGTTGTTCTAGCAATG	0.388																																						ENST00000331573.3																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8						c.(619-621)gafs		proteasome (prosome, macropain) assembly chaperone 1							140.0	138.0	139.0					21																	40550409		2203	4300	6503	SO:0001589	frameshift_variant	8624				proteasome assembly	endoplasmic reticulum	protein binding	g.chr21:40550409delT	AJ006291	CCDS13660.1, CCDS13661.1	21q22.3	2007-10-23	2007-10-23	2007-10-23	ENSG00000183527	ENSG00000183527			3043	protein-coding gene	gene with protein product		605296	"""Down syndrome critical region gene 2"""	DSCR2		10872820, 17189198	Standard	NM_003720		Approved	c21-LRP, LRPC21, PAC1	uc002yxi.4	O95456	OTTHUMG00000066034	ENST00000331573.3:c.621delA	21.37:g.40550409delT	ENSP00000329915:p.Glu207fs		Somatic				PSMG1_ENST00000380900.2_Frame_Shift_Del_p.E186fs	p.E207fs	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	WXS	Illumina GAIIx	Phase_I	O95456	PSMG1_HUMAN			5	1086	-		Prostate(19;8.44e-08)	207					B5BUN2|Q6FHA3|Q6FHD3|Q6S713	Frame_Shift_Del	DEL	ENST00000331573.3	37	c.621delA	CCDS13660.1																																																																																				0.388	PSMG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141404.2	NM_003720		27	116						27	116	---	---	---	---
ZBTB21	49854	broad.mit.edu	37	21	43411090	43411098	+	In_Frame_Del	DEL	ATGTGATTG	ATGTGATTG	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr21:43411090_43411098delATGTGATTG	ENST00000310826.5	-	3	3290_3298	c.3107_3115delCAATCACAT	c.(3106-3117)gcaatcacattt>gtt	p.1036_1039AITF>V	ZBTB21_ENST00000398505.3_In_Frame_Del_p.835_838AITF>V|ZBTB21_ENST00000398499.1_In_Frame_Del_p.1036_1039AITF>V|ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398511.3_In_Frame_Del_p.1036_1039AITF>V	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	1036					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)|methyl-CpG binding (GO:0008327)										TGTCTTTTAAATGTGATTGCTGAAAGGGG	0.44																																						ENST00000310826.5																			0											c.(3106-3117)gtt>g		zinc finger and BTB domain containing 21																																				SO:0001651	inframe_deletion	49854							g.chr21:43411090_43411098delATGTGATTG	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.3107_3115delCAATCACAT	21.37:g.43411090_43411098delATGTGATTG	ENSP00000308759:p.Ala1036_Phe1039delinsVal		Somatic				ZBTB21_ENST00000398505.3_In_Frame_Del_p.AITF835del|ZBTB21_ENST00000398499.1_In_Frame_Del_p.AITF1036del|ZBTB21_ENST00000398511.3_In_Frame_Del_p.AITF1036del	p.AITF1036del	NM_001098402.1	NP_001091872.1	WXS	Illumina GAIIx	Phase_I					3	3290_3298	-								Q5R2W1|Q5R2W2|Q6P4R0	In_Frame_Del	DEL	ENST00000310826.5	37	c.3107_3115delCAATCACAT	CCDS13678.1																																																																																				0.440	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		26	82						26	82	---	---	---	---
TOM1	10043	broad.mit.edu	37	22	35730352	35730352	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:35730352delG	ENST00000449058.2	+	11	1184	c.1059delG	c.(1057-1059)ctgfs	p.L353fs	TOM1_ENST00000436462.2_Frame_Shift_Del_p.L315fs|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000411850.1_Frame_Shift_Del_p.L353fs|MIR3909_ENST00000579518.1_RNA|TOM1_ENST00000425375.1_Frame_Shift_Del_p.L308fs|TOM1_ENST00000447733.1_Frame_Shift_Del_p.L320fs	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	353					endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GAGCTGGCCTGCAGTCTCTGG	0.582																																						ENST00000411850.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						c.(1057-1059)ctfs		target of myb1 (chicken)							76.0	74.0	74.0					22																	35730352		2203	4300	6503	SO:0001589	frameshift_variant	10043				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding	g.chr22:35730352delG	AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"""target of myb1 (chicken) homolog"""			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.1059delG	22.37:g.35730352delG	ENSP00000394466:p.Leu353fs		Somatic				TOM1_ENST00000447733.1_Frame_Shift_Del_p.L320fs|TOM1_ENST00000436462.2_Frame_Shift_Del_p.L315fs|TOM1_ENST00000425375.1_Frame_Shift_Del_p.L308fs|TOM1_ENST00000449058.2_Frame_Shift_Del_p.L353fs|TOM1_ENST00000382034.5_3'UTR	p.L353fs	NM_001135732.1	NP_001129204.1	WXS	Illumina GAIIx	Phase_I	O60784	TOM1_HUMAN			11	1184	+			353					B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Frame_Shift_Del	DEL	ENST00000449058.2	37	c.1059delG	CCDS13913.1																																																																																				0.582	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488		9	111						9	111	---	---	---	---
TMPRSS6	164656	broad.mit.edu	37	22	37466612	37466612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chr22:37466612delG	ENST00000346753.3	-	15	1896	c.1780delC	c.(1780-1782)ctcfs	p.L594fs	TMPRSS6_ENST00000381792.2_Frame_Shift_Del_p.L585fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Del_p.L585fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Del_p.L585fs	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	594	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CGAACCTGGAGGCTGGCCTGC	0.672																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1753-1755)tcfs		transmembrane protease, serine 6							43.0	44.0	44.0					22																	37466612		2203	4300	6503	SO:0001589	frameshift_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37466612delG	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1780delC	22.37:g.37466612delG	ENSP00000334962:p.Leu594fs		Somatic				TMPRSS6_ENST00000406856.1_Frame_Shift_Del_p.L585fs|TMPRSS6_ENST00000346753.3_Frame_Shift_Del_p.L594fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Del_p.L585fs	p.L585fs			WXS	Illumina GAIIx	Phase_I	Q8IU80	TMPS6_HUMAN			15	1893	-			594			Peptidase S1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Frame_Shift_Del	DEL	ENST00000346753.3	37	c.1753delC	CCDS13941.1																																																																																				0.672	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		8	24						8	24	---	---	---	---
GAGE10	643832	broad.mit.edu	37	X	49161392	49161393	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chrX:49161392_49161393insC	ENST00000407599.3	+	2	147_148	c.54_55insC	c.(55-57)cccfs	p.P19fs		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	19										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					TCTATGTAGAGCCCCCTGAAAT	0.421																																						ENST00000407599.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(52-57)gaccccfs		G antigen 10																																				SO:0001589	frameshift_variant	643832							g.chrX:49161392_49161393insC			Xp11.23	2010-06-03			ENSG00000215274	ENSG00000215274			30968	protein-coding gene	gene with protein product							Standard	XM_006710256		Approved	OTTHUMG00000024136	uc010nir.1	A6NGK3	OTTHUMG00000024136	ENST00000407599.3:c.59dupC	X.37:g.49161397_49161397dupC	ENSP00000385415:p.Pro19fs		Somatic					p.DP18fs	NM_001098413.2	NP_001091883.2	WXS	Illumina GAIIx	Phase_I	A6NGK3	GAG10_HUMAN			2	147_148	+	Ovarian(276;0.236)		18						Frame_Shift_Ins	INS	ENST00000407599.3	37	c.54_55insC	CCDS43938.1																																																																																				0.421	GAGE10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060816.1	NM_001098413		7	575						7	575	---	---	---	---
NHSL2	340527	broad.mit.edu	37	X	71360110	71360111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01W-0886-08	TCGA-A3-3346-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93a3c63-cea2-402d-82bb-dd58bea8720e	ff31d8c2-07b6-4a2e-827d-3f0a7e244bd6	g.chrX:71360110_71360111insC	ENST00000373677.1	+	2	2876_2877	c.1614_1615insC	c.(1615-1617)cccfs	p.P539fs	NHSL2_ENST00000510661.1_Frame_Shift_Ins_p.P674fs|NHSL2_ENST00000535692.1_Frame_Shift_Ins_p.P539fs|NHSL2_ENST00000540800.1_Frame_Shift_Ins_p.P905fs			Q5HYW2	NHSL2_HUMAN	NHS-like 2	539										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCTTGGCTATGCCCCCCAGGAG	0.574																																						ENST00000373677.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28						c.(1612-1617)atccccfs		NHS-like 2																																				SO:0001589	frameshift_variant	340527							g.chrX:71360110_71360111insC			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1620dupC	X.37:g.71360116_71360116dupC	ENSP00000362781:p.Pro539fs		Somatic				NHSL2_ENST00000540800.1_Frame_Shift_Ins_p.IP904fs|NHSL2_ENST00000510661.1_Frame_Shift_Ins_p.IP673fs|NHSL2_ENST00000535692.1_Frame_Shift_Ins_p.IP538fs	p.IP538fs			WXS	Illumina GAIIx	Phase_I	F5H593	F5H593_HUMAN			2	2876_2877	+	Renal(35;0.156)		904					B2RN94	Frame_Shift_Ins	INS	ENST00000373677.1	37	c.1614_1615insC																																																																																					0.574	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		7	155						7	155	---	---	---	---
