#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RAB3IP	117177	broad.mit.edu	37	12	70209146	70209146	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:70209146G>A	ENST00000247833.7	+	11	1679	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N	RAB3IP_ENST00000362025.5_3'UTR|RAB3IP_ENST00000551641.1_Missense_Mutation_p.D229N|AC025263.3_ENST00000550437.1_Intron|RAB3IP_ENST00000483530.2_3'UTR|RAB3IP_ENST00000553099.1_Missense_Mutation_p.D229N|RAB3IP_ENST00000550536.1_Missense_Mutation_p.D451N|RAB3IP_ENST00000325555.9_Missense_Mutation_p.D229N|RAB3IP_ENST00000550847.1_Missense_Mutation_p.D142N					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TTGTATAGTTGATCAGATGTT	0.363																																						ENST00000550536.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1351-1353)Gat>Aat		RAB3A interacting protein							168.0	158.0	161.0					12																	70209146		2203	4300	6503	SO:0001583	missense	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70209146G>A		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.1303G>A	12.37:g.70209146G>A	ENSP00000247833:p.Asp435Asn					RAB3IP_ENST00000551641.1_Missense_Mutation_p.D229N|AC025263.3_ENST00000550437.1_Intron|RAB3IP_ENST00000362025.5_3'UTR|RAB3IP_ENST00000325555.9_Missense_Mutation_p.D229N|RAB3IP_ENST00000550847.1_Missense_Mutation_p.D142N|RAB3IP_ENST00000247833.7_Missense_Mutation_p.D435N|RAB3IP_ENST00000483530.2_3'UTR|RAB3IP_ENST00000553099.1_Missense_Mutation_p.D229N	p.D451N	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		11	1808	+	Esophageal squamous(21;0.187)		451						Missense_Mutation	SNP	ENST00000247833.7	37	c.1351G>A	CCDS8995.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239138	0.79800	.	.	ENSG00000127328	ENST00000247833;ENST00000325555;ENST00000550536;ENST00000551641;ENST00000553099;ENST00000550847	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	5.65	5.65	0.86999	.	0.046748	0.85682	D	0.000000	T	0.54598	0.1868	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.48592	-0.9022	10	0.34782	T	0.22	.	19.7308	0.96181	0.0:0.0:1.0:0.0	.	451	Q96QF0	RAB3I_HUMAN	N	435;229;451;229;229;142	ENSP00000247833:D435N;ENSP00000323349:D229N;ENSP00000447300:D451N;ENSP00000448773:D229N;ENSP00000448027:D229N;ENSP00000448102:D142N	ENSP00000247833:D435N	D	+	1	0	RAB3IP	68495413	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.476000	0.97823	2.674000	0.91012	0.591000	0.81541	GAT		0.363	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		96	420	0	0	0	1	0	96	420				
OR4D5	219875	broad.mit.edu	37	11	123810383	123810383	+	Silent	SNP	T	T	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr11:123810383T>C	ENST00000307033.2	+	1	134	c.60T>C	c.(58-60)gtT>gtC	p.V20V		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	20						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(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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;0.0399)		TCTCTCAGGTTTGGGAGCTTC	0.443																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(58-60)gtT>gtC		olfactory receptor, family 4, subfamily D, member 5							91.0	88.0	89.0					11																	123810383		2202	4299	6501	SO:0001819	synonymous_variant	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810383T>C	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.60T>C	11.37:g.123810383T>C							p.V20V	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	134	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	20					B9EGZ4|Q6IFE6	Silent	SNP	ENST00000307033.2	37	c.60T>C	CCDS31699.1																																																																																				0.443	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		44	489	0	0	0	1	0	44	489				
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	lincRNA	SNP	C	C	T	rs111700178		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr5:1593264C>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							AGGGCACATGCCTGACCAAAG	0.557																																						ENST00000436493.2																			0																																																			0							g.chr5:1593264C>T																													5.37:g.1593264C>T														0	361	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.557	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			11	241	0	0	0	1	0	11	241				
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	0.552		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"""		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(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	CM941329	TP53	M		c.(586-588)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578263G>A	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.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		83	129	0	0	0	1	0	83	129				
IFNA7	3444	broad.mit.edu	37	9	21201945	21201945	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr9:21201945T>C	ENST00000239347.3	-	1	259	c.220A>G	c.(220-222)Act>Gct	p.T74A		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	74					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATGGCTTGAGTCTTCTGGAAC	0.493																																						ENST00000239347.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12						c.(220-222)Act>Gct		interferon, alpha 7							129.0	123.0	125.0					9																	21201945		2203	4300	6503	SO:0001583	missense	3444				blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21201945T>C		CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"""Interferons"""	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.220A>G	9.37:g.21201945T>C	ENSP00000239347:p.Thr74Ala						p.T74A	NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN		GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	259	-			74					Q14607|Q5VV14	Missense_Mutation	SNP	ENST00000239347.3	37	c.220A>G	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	t	0.013	-1.633845	0.00806	.	.	ENSG00000214042	ENST00000239347	T	0.02579	4.24	3.56	-2.05	0.07321	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.403303	0.25313	N	0.031561	T	0.00724	0.0024	N	0.00483	-1.445	0.09310	N	1	B	0.09022	0.002	B	0.20384	0.029	T	0.41592	-0.9500	10	0.02654	T	1	.	8.063	0.30644	0.0:0.519:0.0:0.481	.	74	P01567	IFNA7_HUMAN	A	74	ENSP00000239347:T74A	ENSP00000239347:T74A	T	-	1	0	IFNA7	21191945	0.000000	0.05858	0.017000	0.16124	0.051000	0.14879	-0.918000	0.04021	-0.858000	0.04110	-1.451000	0.01035	ACT		0.493	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		9	389	0	0	0	1	0	9	389				
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	lincRNA	SNP	C	C	T	rs367060	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCAGCCTTCCGCCGGGCCAG	0.672													.|||	253	0.0505192	0.115	0.0533	5008	,	,		65734	0.0119		0.0437	False		,,,				2504	0.0082					ENST00000412962.1																			0																																																			0							g.chr1:16946434C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946434C>T														0	1085	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		12	151	0	0	0	1	0	12	151				
AMOT	154796	broad.mit.edu	37	X	112048283	112048283	+	Silent	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:112048283C>T	ENST00000524145.1	-	6	1742	c.1668G>A	c.(1666-1668)gcG>gcA	p.A556A	AMOT_ENST00000371959.3_Silent_p.A556A|AMOT_ENST00000371962.1_Silent_p.A324A|AMOT_ENST00000371958.1_Silent_p.A324A|AMOT_ENST00000304758.1_Silent_p.A147A			Q4VCS5	AMOT_HUMAN	angiomotin	556					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TGGCCAGCTCCGCTTCCAGCT	0.527																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1666-1668)gcG>gcA		angiomotin							253.0	218.0	230.0					X																	112048283		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112048283C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1668G>A	X.37:g.112048283C>T						AMOT_ENST00000304758.1_Silent_p.A147A|AMOT_ENST00000524145.1_Silent_p.A556A|AMOT_ENST00000371962.1_Silent_p.A324A|AMOT_ENST00000371958.1_Silent_p.A324A	p.A556A	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			5	1667	-			556					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1668G>A	CCDS48154.1																																																																																				0.527	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		452	724	0	0	0	1	0	452	724				
ATRIP	84126	broad.mit.edu	37	3	48491541	48491541	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:48491541G>A	ENST00000320211.3	+	2	459	c.346G>A	c.(346-348)Gta>Ata	p.V116I	ATRIP_ENST00000346691.4_Missense_Mutation_p.V116I|ATRIP_ENST00000412052.1_Missense_Mutation_p.V23I|ATRIP_ENST00000357105.6_5'UTR	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	116					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGAATTAGAGGTACTTCAGGC	0.333								Other conserved DNA damage response genes																														ENST00000412052.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22						c.(67-69)Gta>Ata	Other conserved DNA damage response genes	ATR interacting protein							83.0	90.0	88.0					3																	48491541		2203	4298	6501	SO:0001583	missense	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48491541G>A	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.346G>A	3.37:g.48491541G>A	ENSP00000323099:p.Val116Ile					ATRIP_ENST00000357105.6_5'UTR|ATRIP_ENST00000346691.4_Missense_Mutation_p.V116I|ATRIP_ENST00000320211.3_Missense_Mutation_p.V116I	p.V23I	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	2	529	+			116					A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	37	c.67G>A	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007454	0.35415	.	.	ENSG00000164053	ENST00000421175;ENST00000320211;ENST00000346691;ENST00000412052	T;T;T;T	0.78126	-1.15;1.43;1.43;1.44	5.51	-2.4	0.06583	.	1.023550	0.07743	N	0.947318	T	0.70159	0.3192	M	0.61703	1.905	0.43953	D	0.996621	B;B	0.12013	0.005;0.005	B;B	0.09377	0.004;0.004	T	0.56739	-0.7929	10	0.42905	T	0.14	-0.3582	5.7328	0.18049	0.1973:0.0:0.3847:0.418	.	116;116	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	I	23;116;116;23	ENSP00000406664:V23I;ENSP00000323099:V116I;ENSP00000302338:V116I;ENSP00000400930:V23I	ENSP00000323099:V116I	V	+	1	0	ATRIP	48466545	0.925000	0.31364	0.646000	0.29493	0.967000	0.64934	0.191000	0.17076	-0.420000	0.07427	0.655000	0.94253	GTA		0.333	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		240	343	0	0	0	1	0	240	343				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					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.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		7	299	0	0	0	1	0	7	299				
ADAMTS7	11173	broad.mit.edu	37	15	79067130	79067130	+	Missense_Mutation	SNP	T	T	C	rs138755716	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr15:79067130T>C	ENST00000388820.4	-	12	1922	c.1712A>G	c.(1711-1713)aAa>aGa	p.K571R	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	571	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCCTTTGTATTTGGGCCTGTG	0.647													T|||	3	0.000599042	0.0015	0.0014	5008	,	,		21500	0.0		0.0	False		,,,				2504	0.0					ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(1711-1713)aAa>aGa		ADAM metallopeptidase with thrombospondin type 1 motif, 7		T	ARG/LYS	1,4391	2.1+/-5.4	0,1,2195	53.0	63.0	59.0		1712	2.4	1.0	15	dbSNP_134	59	0,8586		0,0,4293	no	missense	ADAMTS7	NM_014272.3	26	0,1,6488	CC,CT,TT		0.0,0.0228,0.0077	possibly-damaging	571/1687	79067130	1,12977	2196	4293	6489	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79067130T>C	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1712A>G	15.37:g.79067130T>C	ENSP00000373472:p.Lys571Arg					ADAMTS7_ENST00000566303.1_Intron	p.K571R	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			12	1922	-			571			TSP type-1 1.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.1712A>G	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.181649	0.38511	2.28E-4	0.0	ENSG00000136378	ENST00000388820	T	0.03553	3.89	3.51	2.38	0.29361	.	0.182461	0.45867	N	0.000336	T	0.03178	0.0093	L	0.28400	0.85	0.32541	N	0.53364	B;P	0.40681	0.057;0.727	B;B	0.40506	0.1;0.331	T	0.42916	-0.9423	10	0.28530	T	0.3	.	7.5384	0.27723	0.0:0.1086:0.0:0.8914	.	571;571	A8MQ00;Q9UKP4	.;ATS7_HUMAN	R	571	ENSP00000373472:K571R	ENSP00000373472:K571R	K	-	2	0	ADAMTS7	76854185	1.000000	0.71417	0.996000	0.52242	0.159000	0.22180	3.194000	0.51005	0.565000	0.29255	0.240000	0.17902	AAA		0.647	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		6	224	0	0	0	1	0	6	224				
ACE2	59272	broad.mit.edu	37	X	15582310	15582310	+	Missense_Mutation	SNP	G	G	A	rs144869363	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:15582310G>A	ENST00000252519.3	-	17	2248	c.2146C>T	c.(2146-2148)Cgt>Tgt	p.R716C	ACE2_ENST00000471548.1_5'UTR|ACE2_ENST00000427411.1_Missense_Mutation_p.R716C			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	716	Essential for cleavage by TMPRSS11D and TMPRSS2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	TCATTCAGACGGAAAGCATCA	0.428																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(2146-2148)Cgt>Tgt		angiotensin I converting enzyme 2	Moexipril(DB00691)	G	CYS/ARG	1,3834		0,0,1,1632,570	167.0	152.0	157.0		2146	0.1	0.0	X	dbSNP_134	157	0,6728		0,0,0,2428,1872	no	missense	ACE2	NM_021804.2	180	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	possibly-damaging	716/806	15582310	1,10562	2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15582310G>A	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.2146C>T	X.37:g.15582310G>A	ENSP00000252519:p.Arg716Cys					ACE2_ENST00000471548.1_5'UTR|ACE2_ENST00000252519.3_Missense_Mutation_p.R716C	p.R716C	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			18	2362	-	Hepatocellular(33;0.183)		716					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.2146C>T	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320166	0.23994	2.61E-4	0.0	ENSG00000130234	ENST00000252519;ENST00000427411	D;D	0.85484	-1.99;-1.99	6.16	0.0817	0.14425	.	0.653399	0.16598	N	0.207475	D	0.84325	0.5447	M	0.77616	2.38	0.09310	N	1	D	0.56287	0.975	P	0.46339	0.513	T	0.76586	-0.2905	10	0.87932	D	0	1.1293	7.4363	0.27158	0.0666:0.5122:0.2256:0.1956	.	716	Q9BYF1	ACE2_HUMAN	C	716	ENSP00000252519:R716C;ENSP00000389326:R716C	ENSP00000252519:R716C	R	-	1	0	ACE2	15492231	0.293000	0.24371	0.002000	0.10522	0.004000	0.04260	0.501000	0.22578	-0.455000	0.07054	-1.092000	0.02172	CGT		0.428	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			128	572	0	0	0	1	0	128	572				
ARID2	196528	broad.mit.edu	37	12	46231283	46231283	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:46231283A>G	ENST00000334344.6	+	10	1295	c.1123A>G	c.(1123-1125)Atg>Gtg	p.M375V	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.M4V|ARID2_ENST00000422737.1_Missense_Mutation_p.M226V	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	375					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTTTCAGGCATGGAAATTTT	0.308			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(1123-1125)Atg>Gtg		AT rich interactive domain 2 (ARID, RFX-like)							87.0	86.0	86.0					12																	46231283		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46231283A>G		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1123A>G	12.37:g.46231283A>G	ENSP00000335044:p.Met375Val					ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.M4V|ARID2_ENST00000422737.1_Missense_Mutation_p.M226V	p.M375V	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	10	1295	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	375					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.1123A>G	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.065763	0.55539	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T;T	0.43294	0.95;0.95	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.60209	0.2251	L	0.59436	1.845	0.80722	D	1	P;P;P	0.52577	0.954;0.799;0.865	D;P;P	0.66351	0.943;0.468;0.824	T	0.63233	-0.6683	10	0.72032	D	0.01	-9.3805	15.3006	0.73949	1.0:0.0:0.0:0.0	.	375;226;375	Q68CP9-3;F8WCU9;Q68CP9	.;.;ARID2_HUMAN	V	375;226;4	ENSP00000335044:M375V;ENSP00000415650:M226V	ENSP00000335044:M375V	M	+	1	0	ARID2	44517550	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	9.339000	0.96797	2.011000	0.59026	0.260000	0.18958	ATG		0.308	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		148	533	0	0	0	1	0	148	533				
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ACTCACTGACATCGAAGGCTG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659591A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659591A>G								NR_003714.1						0	3116	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		6	111	0	0	0	1	0	6	111				
CHD3	1107	broad.mit.edu	37	17	7796794	7796794	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:7796794A>C	ENST00000330494.7	+	5	850	c.700A>C	c.(700-702)Ata>Cta	p.I234L	CHD3_ENST00000358181.4_Missense_Mutation_p.I234L|CHD3_ENST00000380358.4_Missense_Mutation_p.I293L	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	234					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGCCACCCCCATAGCACCCTC	0.657																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(877-879)Ata>Cta		chromodomain helicase DNA binding protein 3							17.0	19.0	18.0					17																	7796794		2201	4295	6496	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7796794A>C	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.700A>C	17.37:g.7796794A>C	ENSP00000332628:p.Ile234Leu					CHD3_ENST00000330494.7_Missense_Mutation_p.I234L|CHD3_ENST00000358181.4_Missense_Mutation_p.I234L	p.I293L	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			5	878	+		Prostate(122;0.202)	234					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.877A>C	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.126|8.126	0.781961|0.781961	0.16189|0.16189	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000452447|ENST00000380358;ENST00000358181;ENST00000330494	.|D;D;D	.|0.89681	.|-2.55;-2.48;-2.49	4.82|4.82	2.56|2.56	0.30785|0.30785	.|.	.|0.265497	.|0.26574	.|N	.|0.023613	T|T	0.74366|0.74366	0.3707|0.3707	N|N	0.12569|0.12569	0.235|0.235	0.27264|0.27264	N|N	0.958547|0.958547	.|B;B;B	.|0.09022	.|0.0;0.0;0.002	.|B;B;B	.|0.04013	.|0.001;0.001;0.001	T|T	0.60239|0.60239	-0.7302|-0.7302	5|10	.|0.30078	.|T	.|0.28	-5.5046|-5.5046	4.7364|4.7364	0.12989|0.12989	0.6287:0.0:0.2401:0.1313|0.6287:0.0:0.2401:0.1313	.|.	.|234;234;293	.|Q12873-2;Q12873;E9PG89	.|.;CHD3_HUMAN;.	P|L	108|293;234;234	.|ENSP00000369716:I293L;ENSP00000350907:I234L;ENSP00000332628:I234L	.|ENSP00000332628:I234L	H|I	+|+	2|1	0|0	CHD3|CHD3	7737519|7737519	.|.	.|.	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	.|.	.|.	0.338000|0.338000	0.23692|0.23692	-0.388000|-0.388000	0.06559|0.06559	CAT|ATA		0.657	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		9	42	0	0	0	1	0	9	42				
ABCA12	26154	broad.mit.edu	37	2	215835096	215835096	+	Missense_Mutation	SNP	G	G	A	rs191670598		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:215835096G>A	ENST00000272895.7	-	37	5810	c.5591C>T	c.(5590-5592)cCg>cTg	p.P1864L	ABCA12_ENST00000389661.4_Missense_Mutation_p.P1546L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1864					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTTCTGTGCGGTGGGGAATA	0.358													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17474	0.0		0.0	False		,,,				2504	0.0				Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(5590-5592)cCg>cTg		ATP-binding cassette, sub-family A (ABC1), member 12		G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	94.0	95.0	95.0		4637,5591	5.3	1.0	2		95	0,8600		0,0,4300	no	missense,missense	ABCA12	NM_015657.3,NM_173076.2	98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1546/2278,1864/2596	215835096	1,13005	2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215835096G>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5591C>T	2.37:g.215835096G>A	ENSP00000272895:p.Pro1864Leu					ABCA12_ENST00000389661.4_Missense_Mutation_p.P1546L	p.P1864L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	37	5810	-		Renal(323;0.127)	1864					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.5591C>T	CCDS33372.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	25.7	4.669881	0.88348	2.27E-4	0.0	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.96300	-3.97;-3.88	5.29	5.29	0.74685	.	0.000000	0.51477	D	0.000093	D	0.98071	0.9364	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98850	1.0758	10	0.87932	D	0	.	18.9084	0.92472	0.0:0.0:1.0:0.0	.	1864;1546	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	L	1864;1546	ENSP00000272895:P1864L;ENSP00000374312:P1546L	ENSP00000272895:P1864L	P	-	2	0	ABCA12	215543341	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.752000	0.85141	2.640000	0.89533	0.650000	0.86243	CCG		0.358	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		74	358	0	0	0	1	0	74	358				
GTF3A	2971	broad.mit.edu	37	13	28001293	28001293	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:28001293G>T	ENST00000381140.4	+	2	460	c.266G>T	c.(265-267)cGc>cTc	p.R89L	GTF3A_ENST00000470606.1_3'UTR	NM_002097.2	NP_002088	Q92664	TF3A_HUMAN	general transcription factor IIIA	89					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)		CATCTGAGCCGCCACATTCTG	0.453																																						ENST00000381140.4																			0				breast(1)|lung(1)	2						c.(265-267)cGc>cTc		general transcription factor IIIA							73.0	65.0	68.0					13																	28001293		1568	3582	5150	SO:0001583	missense	2971				regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr13:28001293G>T		CCDS45019.1	13q12.3-q13.1	2013-01-08			ENSG00000122034	ENSG00000122034		"""General transcription factors"", ""Zinc fingers, C2H2-type"""	4662	protein-coding gene	gene with protein product		600860				7789179	Standard	NM_002097		Approved	TFIIIA, AP2	uc001ure.2	Q92664	OTTHUMG00000016632	ENST00000381140.4:c.266G>T	13.37:g.28001293G>T	ENSP00000370532:p.Arg89Leu					GTF3A_ENST00000470606.1_3'UTR	p.R89L	NM_002097.2	NP_002088.2	Q92664	TF3A_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)	2	460	+		Lung SC(185;0.0156)	89					B7ZBK5|Q12963|Q13097	Missense_Mutation	SNP	ENST00000381140.4	37	c.266G>T	CCDS45019.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343156	0.82022	.	.	ENSG00000122034	ENST00000381140	D	0.96232	-3.95	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.060233	0.64402	D	0.000003	D	0.96580	0.8884	L	0.38531	1.155	0.47659	D	0.999486	D	0.89917	1.0	D	0.87578	0.998	D	0.95247	0.8356	9	0.23891	T	0.37	-30.5797	16.9456	0.86229	0.0:0.0:1.0:0.0	.	89	Q92664	TF3A_HUMAN	L	89	ENSP00000370532:R89L	ENSP00000370532:R89L	R	+	2	0	GTF3A	26899293	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	6.197000	0.72100	2.495000	0.84180	0.655000	0.94253	CGC		0.453	GTF3A-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044281.2	NM_002097		27	76	1	0	5.60225e-13	1	6.16682e-13	27	76				
MAEA	10296	broad.mit.edu	37	4	1283769	1283769	+	Splice_Site	SNP	A	A	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:1283769A>G	ENST00000303400.4	+	1	131	c.68A>G	c.(67-69)aAg>aGg	p.K23R	MAEA_ENST00000264750.6_Splice_Site_p.K23R|MAEA_ENST00000452175.2_Splice_Site_p.K12R|MAEA_ENST00000505177.2_Splice_Site_p.K23R|MAEA_ENST00000514708.1_Splice_Site_p.K23R|CTBP1-AS2_ENST00000578730.1_RNA	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	23	Extracellular and involved in cell to cell contact.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	CCGACCCTCAAGGTGGGCGCC	0.716																																						ENST00000303400.4																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.e1+1		macrophage erythroblast attacher							21.0	19.0	20.0					4																	1283769		2190	4294	6484	SO:0001630	splice_region_variant	10296				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	g.chr4:1283769A>G	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.69+1A>G	4.37:g.1283769A>G						MAEA_ENST00000505177.2_Splice_Site_p.K23_splice|MAEA_ENST00000452175.2_Splice_Site_p.K12_splice|MAEA_ENST00000514708.1_Splice_Site_p.K23_splice|MAEA_ENST00000264750.6_Splice_Site_p.K23_splice	p.K23_splice	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0201)		1	131	+			23			Extracellular and involved in cell to cell contact.		O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Splice_Site	SNP	ENST00000303400.4	37	c.69_splice	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113236	0.56398	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000264750;ENST00000382947;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000514708	T;T;T;T;T;T;T	0.47869	1.11;1.04;0.97;1.11;0.9;0.83;1.05	3.36	3.36	0.38483	.	0.130255	0.49305	D	0.000158	T	0.34279	0.0892	L	0.35542	1.07	0.33919	D	0.640589	B;B;B;P;B	0.39376	0.136;0.286;0.131;0.67;0.024	B;B;B;B;B	0.39119	0.126;0.203;0.084;0.291;0.016	T	0.42899	-0.9424	10	0.14252	T	0.57	.	11.9497	0.52948	1.0:0.0:0.0:0.0	.	23;23;23;23;23	E7ESC7;Q7L5Y9-2;D6RIB6;Q7L5Y9-3;Q7L5Y9	.;.;.;.;MAEA_HUMAN	R	23;23;23;23;23;23;23;12;23	ENSP00000302830:K23R;ENSP00000422215:K23R;ENSP00000421644:K23R;ENSP00000264750:K23R;ENSP00000426903:K23R;ENSP00000411415:K12R;ENSP00000427512:K23R	ENSP00000264750:K23R	K	+	2	0	MAEA	1273769	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	6.007000	0.70731	1.406000	0.46857	0.528000	0.53228	AAG		0.716	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882	Missense_Mutation	6	41	0	0	0	1	0	6	41				
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:18778612C>T	ENST00000412448.1	-	0	793							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										GCGGCCACGGCAGCCCTGGTG	0.637																																						ENST00000412448.1																			0																																																			0							g.chr22:18778612C>T			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778612C>T														0	793	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.637	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		11	131	0	0	0	1	0	11	131				
PLA1A	51365	broad.mit.edu	37	3	119327676	119327676	+	Missense_Mutation	SNP	C	C	T	rs145457987	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:119327676C>T	ENST00000273371.4	+	3	407	c.335C>T	c.(334-336)aCg>aTg	p.T112M	PLA1A_ENST00000495992.1_Missense_Mutation_p.T112M|PLA1A_ENST00000494440.1_Missense_Mutation_p.T96M|PLA1A_ENST00000488919.1_5'UTR	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	112					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGCGTGCAACGAATGCTAAT	0.438																																						ENST00000273371.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(334-336)aCg>aTg		phospholipase A1 member A		C	MET/THR,,MET/THR	6,4400	11.4+/-27.6	0,6,2197	178.0	177.0	177.0		335,,335	2.2	0.0	3	dbSNP_134	177	0,8600		0,0,4300	no	missense,utr-5,missense	PLA1A	NM_001206960.1,NM_001206961.1,NM_015900.3	81,,81	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	possibly-damaging,,possibly-damaging	112/441,,112/457	119327676	6,13000	2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119327676C>T	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.335C>T	3.37:g.119327676C>T	ENSP00000273371:p.Thr112Met					PLA1A_ENST00000495992.1_Missense_Mutation_p.T112M|PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000494440.1_Missense_Mutation_p.T96M	p.T112M	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN			3	407	+			112					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.335C>T	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	C	3.694	-0.062843	0.07273	0.001362	0.0	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.90955	-2.68;-2.76;-2.68	5.17	2.19	0.27852	Lipase, N-terminal (1);	0.669254	0.16089	N	0.230123	T	0.79299	0.4422	N	0.16266	0.395	0.09310	N	1	P;B	0.47545	0.897;0.008	B;B	0.40329	0.326;0.005	T	0.72408	-0.4303	10	0.66056	D	0.02	-0.7573	2.9704	0.05920	0.2767:0.4081:0.2293:0.0858	.	112;112	Q53H76-3;Q53H76	.;PLA1A_HUMAN	M	112;112;96	ENSP00000273371:T112M;ENSP00000417326:T112M;ENSP00000418793:T96M	ENSP00000273371:T112M	T	+	2	0	PLA1A	120810366	0.006000	0.16342	0.001000	0.08648	0.014000	0.08584	0.401000	0.20948	0.549000	0.28973	0.462000	0.41574	ACG		0.438	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			203	629	0	0	0	1	0	203	629				
ESPNP	284729	broad.mit.edu	37	1	17023143	17023143	+	RNA	SNP	C	C	T	rs559507	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:17023143C>T	ENST00000492551.1	-	0	1720					NR_026567.1				espin pseudogene																		TGTGGGGCTCCGGACTGGTAA	0.692																																						ENST00000492551.1																			0																																																			0							g.chr1:17023143C>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023143C>T								NR_026567.1						0	1720	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.692	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			10	138	0	0	0	1	0	10	138				
TRIM58	25893	broad.mit.edu	37	1	248039221	248039221	+	Silent	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:248039221C>T	ENST00000366481.3	+	6	939	c.891C>T	c.(889-891)ccC>ccT	p.P297P	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	297	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.P297P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGCTGGATCCCGCCACGGCGC	0.537																																						ENST00000366481.3																			1	Substitution - coding silent(1)	p.P297P(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(889-891)ccC>ccT		tripartite motif containing 58							55.0	55.0	55.0					1																	248039221		2203	4300	6503	SO:0001819	synonymous_variant	25893					intracellular	zinc ion binding	g.chr1:248039221C>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.891C>T	1.37:g.248039221C>T						OR2W3_ENST00000537741.1_5'UTR	p.P297P	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	939	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	297			B30.2/SPRY.		Q6B0H9	Silent	SNP	ENST00000366481.3	37	c.891C>T	CCDS1636.1																																																																																				0.537	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		57	141	0	0	0	1	0	57	141				
SH2D3C	10044	broad.mit.edu	37	9	130507114	130507114	+	Missense_Mutation	SNP	G	G	A	rs142472912		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr9:130507114G>A	ENST00000314830.8	-	7	1642	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	SH2D3C_ENST00000373276.3_Missense_Mutation_p.A442V|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Missense_Mutation_p.A156V|SH2D3C_ENST00000373277.4_Missense_Mutation_p.A353V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.A352V|SH2D3C_ENST00000373274.3_Missense_Mutation_p.A350V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	510					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGTCTCAGTCGCTGCCCACTC	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		15227	0.0		0.001	False		,,,				2504	0.0					ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1528-1530)gCg>gTg		SH2 domain containing 3C							104.0	113.0	110.0					9																	130507114		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130507114G>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1529C>T	9.37:g.130507114G>A	ENSP00000317817:p.Ala510Val					SH2D3C_ENST00000420366.1_Missense_Mutation_p.A352V|SH2D3C_ENST00000373277.4_Missense_Mutation_p.A353V|SH2D3C_ENST00000373276.3_Missense_Mutation_p.A442V|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Missense_Mutation_p.A156V|SH2D3C_ENST00000373274.3_Missense_Mutation_p.A350V	p.A510V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			7	1642	-			510					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.1529C>T	CCDS6877.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.21	1.288019	0.23478	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.5	2.4	0.29515	.	0.589560	0.17839	N	0.160278	T	0.27765	0.0683	L	0.44542	1.39	0.09310	N	1	B;B;B;B;B	0.33494	0.217;0.414;0.059;0.324;0.032	B;B;B;B;B	0.22152	0.038;0.017;0.002;0.038;0.003	T	0.13388	-1.0511	10	0.45353	T	0.12	-3.8094	6.1239	0.20167	0.074:0.134:0.6533:0.1387	.	350;510;442;353;352	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	V	353;352;442;350;156;510	ENSP00000362374:A353V;ENSP00000388536:A352V;ENSP00000362373:A442V;ENSP00000362371:A350V;ENSP00000394632:A156V;ENSP00000317817:A510V	ENSP00000317817:A510V	A	-	2	0	SH2D3C	129546935	0.048000	0.20356	0.006000	0.13384	0.504000	0.33889	2.309000	0.43699	0.640000	0.30582	0.462000	0.41574	GCG		0.627	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		324	605	0	0	0	1	0	324	605				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		11	278	0	0	0	1	0	11	278				
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T	rs568917673		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274																																						ENST00000228347.4																			2	Substitution - Missense(2)	p.L372F(2)	urinary_tract(1)|prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(1114-1116)Ctt>Ttt		polymerase (RNA) III (DNA directed) polypeptide B																																				SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820987C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1114C>T	12.37:g.106820987C>T	ENSP00000228347:p.Leu372Phe					POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	p.L372F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1336	+			372					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1114C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105377	0.77096	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;T	0.79554	-0.26;-0.26;-1.28	5.62	4.73	0.59995	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	H	0.96142	3.775	0.80722	D	1	B	0.33964	0.434	P	0.47134	0.539	D	0.91279	0.5050	10	0.87932	D	0	-18.4128	11.6653	0.51370	0.0:0.8574:0.0:0.1426	.	372	Q9NW08	RPC2_HUMAN	F	372;372;314;130;35	ENSP00000228347:L372F;ENSP00000445721:L314F;ENSP00000448398:L130F	ENSP00000228347:L372F	L	+	1	0	POLR3B	105345117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.535000	0.53575	1.506000	0.48736	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		9	73	0	0	0	1	0	9	73				
CROCCP2	84809	broad.mit.edu	37	1	16946471	16946471	+	lincRNA	SNP	G	G	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:16946471G>C	ENST00000412962.1	-	0	1048				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CGCTGCAGCTGACTCTGCAGC	0.677																																						ENST00000412962.1																			0																																																			0							g.chr1:16946471G>C	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946471G>C														0	1048	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.677	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	118	0	0	0	1	0	4	118				
ERICH3	127254	broad.mit.edu	37	1	75037471	75037471	+	Missense_Mutation	SNP	G	G	A	rs138615520		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:75037471G>A	ENST00000326665.5	-	14	4141	c.3923C>T	c.(3922-3924)gCg>gTg	p.A1308V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1308	Glu-rich.							p.A1308V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTCCTGCATCGCTTCTGTCTC	0.542																																						ENST00000326665.5																			1	Substitution - Missense(1)	p.A1308V(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(3922-3924)gCg>gTg		chromosome 1 open reading frame 173							260.0	219.0	233.0					1																	75037471		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037471G>A																												ENST00000326665.5:c.3923C>T	1.37:g.75037471G>A	ENSP00000322609:p.Ala1308Val					C1orf173_ENST00000433746.2_5'UTR	p.A1308V	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	4141	-			1308			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3923C>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	0.460	-0.889610	0.02511	.	.	ENSG00000178965	ENST00000326665	T	0.09723	2.95	3.58	-4.77	0.03219	.	.	.	.	.	T	0.00967	0.0032	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47598	-0.9105	9	0.28530	T	0.3	-0.0061	3.7935	0.08730	0.4175:0.0:0.3159:0.2666	.	1308	Q5RHP9	CA173_HUMAN	V	1308	ENSP00000322609:A1308V	ENSP00000322609:A1308V	A	-	2	0	C1orf173	74810059	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.543000	0.06084	-0.741000	0.04797	-0.672000	0.03802	GCG		0.542	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			117	728	0	0	0	1	0	117	728				
SI	6476	broad.mit.edu	37	3	164764706	164764706	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:164764706C>A	ENST00000264382.3	-	16	1872	c.1810G>T	c.(1810-1812)Gac>Tac	p.D604Y		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	604	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GCAGTATTGTCTCCTAACCAA	0.393										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(1810-1812)Gac>Tac		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						100.0	96.0	97.0					3																	164764706		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164764706C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1810G>T	3.37:g.164764706C>A	ENSP00000264382:p.Asp604Tyr	HNSCC(35;0.089)					p.D604Y	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			16	1872	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	604			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1810G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544210	0.86022	.	.	ENSG00000090402	ENST00000264382	D	0.97906	-4.6	5.36	5.36	0.76844	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99354	0.9773	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98404	1.0569	10	0.87932	D	0	.	18.0712	0.89407	0.0:1.0:0.0:0.0	.	604	P14410	SUIS_HUMAN	Y	604	ENSP00000264382:D604Y	ENSP00000264382:D604Y	D	-	1	0	SI	166247400	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.356000	0.79445	2.519000	0.84933	0.467000	0.42956	GAC		0.393	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		12	592	1	0	1.5842e-08	1	1.71722e-08	12	592				
RBM10	8241	broad.mit.edu	37	X	47030582	47030582	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(355-357)gaG>gaT		RNA binding motif protein 10							20.0	19.0	19.0					X																	47030582		2202	4294	6496	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030582G>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	X.37:g.47030582G>T	ENSP00000366829:p.Glu119Asp					RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	p.E119D	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1099	+			119			Poly-Glu.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.357G>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG		0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		5	91	1	0	0.000602214	1	0.000624193	5	91				
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AGGTTCTTGCGCAGAATTCTG	0.383																																						ENST00000442266.1																			0																																																			0							g.chr7:65226641G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226641G>T														0	1167	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.383	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		4	102	1	0	0.000602214	1	0.000624193	4	102				
LRBA	987	broad.mit.edu	37	4	151791686	151791686	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:151791686G>C	ENST00000357115.3	-	20	2683	c.2440C>G	c.(2440-2442)Caa>Gaa	p.Q814E	LRBA_ENST00000510413.1_Missense_Mutation_p.Q814E|LRBA_ENST00000535741.1_Missense_Mutation_p.Q814E|LRBA_ENST00000507224.1_Missense_Mutation_p.Q814E	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	814						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CGAGGGTTTTGTATCTTCACT	0.313																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(2440-2442)Caa>Gaa		LPS-responsive vesicle trafficking, beach and anchor containing							96.0	96.0	96.0					4																	151791686		2203	4294	6497	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151791686G>C	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.2440C>G	4.37:g.151791686G>C	ENSP00000349629:p.Gln814Glu					LRBA_ENST00000507224.1_Missense_Mutation_p.Q814E|LRBA_ENST00000357115.3_Missense_Mutation_p.Q814E|LRBA_ENST00000510413.1_Missense_Mutation_p.Q814E	p.Q814E			P50851	LRBA_HUMAN			20	2913	-	all_hematologic(180;0.151)		814					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.2440C>G	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375857	0.24857	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.66	5.66	0.87406	Armadillo-type fold (1);	0.413735	0.23682	N	0.045609	T	0.63200	0.2491	L	0.31157	0.91	0.52099	D	0.99994	D;P	0.56968	0.978;0.571	P;B	0.58130	0.833;0.288	T	0.55218	-0.8175	10	0.02654	T	1	.	19.757	0.96298	0.0:0.0:1.0:0.0	.	814;814	P50851;P50851-2	LRBA_HUMAN;.	E	814	ENSP00000446299:Q814E;ENSP00000421552:Q814E;ENSP00000349629:Q814E;ENSP00000422180:Q814E	ENSP00000349629:Q814E	Q	-	1	0	LRBA	152011136	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.464000	0.66719	2.678000	0.91216	0.460000	0.39030	CAA		0.313	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			126	200	0	0	0	1	0	126	200				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			0							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		18	152	0	0	0	1	0	18	152				
LINC00969	440993	broad.mit.edu	37	3	195410689	195410689	+	lincRNA	SNP	C	C	T	rs6583275	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:195410689C>T	ENST00000445430.1	+	0	1886									long intergenic non-protein coding RNA 969																		CTTTGAGGTGCACTGGAGGAA	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		35599	0.1855		0.16	False		,,,				2504	0.1748					ENST00000445430.1																			0																																																			0							g.chr3:195410689C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410689C>T														0	1886	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	91	0	0	0	1	0	4	91				
AGPAT3	56894	broad.mit.edu	37	21	45389013	45389013	+	Silent	SNP	C	C	A	rs146737372	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr21:45389013C>A	ENST00000398063.2	+	4	855	c.363C>A	c.(361-363)ctC>ctA	p.L121L	AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000327505.2_Silent_p.L121L|AGPAT3_ENST00000398061.1_Silent_p.L121L|AGPAT3_ENST00000546158.1_Silent_p.L121L|AGPAT3_ENST00000398058.1_Silent_p.L121L|AGPAT3_ENST00000291572.8_Silent_p.L121L	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	121					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CCAAGGTCCTCGCTAAGAAGG	0.637																																					Pancreas(60;623 1650 5574 52796)	ENST00000398063.2																			0				large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11						c.(361-363)ctC>ctA		1-acylglycerol-3-phosphate O-acyltransferase 3		C	,	1,4405	2.1+/-5.4	0,1,2202	113.0	88.0	96.0		363,363	-9.0	0.2	21	dbSNP_134	96	11,8589	8.4+/-32.0	0,11,4289	no	coding-synonymous,coding-synonymous	AGPAT3	NM_001037553.1,NM_020132.4	,	0,12,6491	AA,AC,CC		0.1279,0.0227,0.0923	,	121/377,121/377	45389013	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45389013C>A	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.363C>A	21.37:g.45389013C>A						AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Silent_p.L121L|AGPAT3_ENST00000327505.2_Silent_p.L121L|AGPAT3_ENST00000546158.1_Silent_p.L121L|AGPAT3_ENST00000291572.8_Silent_p.L121L|AGPAT3_ENST00000398061.1_Silent_p.L121L	p.L121L	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	4	855	+			121					D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Silent	SNP	ENST00000398063.2	37	c.363C>A	CCDS13703.1																																																																																				0.637	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		8	224	1	0	0.000157383	1	0.000165544	8	224				
LOC101927648	101927648	broad.mit.edu	37	1	143403563	143403563	+	lincRNA	SNP	C	C	A	rs376564211		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:143403563C>A	ENST00000423249.1	-	0	59																											TTTCTTTGGCCACTTTGGCTG	0.453																																						ENST00000423249.1																			0																																																			0							g.chr1:143403563C>A																													1.37:g.143403563C>A														0	59	-									RNA	SNP	ENST00000423249.1	37																																																																																						0.453	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037552.1			10	98	1	0	1.99824e-07	1	2.13345e-07	10	98				
KCNT2	343450	broad.mit.edu	37	1	196227479	196227479	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:196227479C>T	ENST00000294725.9	-	26	3971	c.3056G>A	c.(3055-3057)cGa>cAa	p.R1019Q	KCNT2_ENST00000367431.4_Missense_Mutation_p.R953Q|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.R952Q|KCNT2_ENST00000367433.5_Missense_Mutation_p.R995Q			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1019					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.R1019Q(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTCAGTCTTCGGGCCCACTG	0.512																																						ENST00000367433.5																			1	Substitution - Missense(1)	p.R1019Q(1)	large_intestine(1)	NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2983-2985)cGa>cAa		potassium channel, subfamily T, member 2							147.0	127.0	134.0					1																	196227479		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196227479C>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3056G>A	1.37:g.196227479C>T	ENSP00000294725:p.Arg1019Gln					KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.R953Q|KCNT2_ENST00000294725.8_Missense_Mutation_p.R1019Q	p.R995Q			Q6UVM3	KCNT2_HUMAN			25	3085	-			1019					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2984G>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444207	0.83993	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.23950	1.88;1.93;2.23	5.74	4.83	0.62350	.	0.000000	0.49305	D	0.000152	T	0.49847	0.1581	M	0.78916	2.43	0.80722	D	1	D;D;D;D	0.76494	0.999;0.99;0.967;0.983	D;P;P;P	0.65443	0.935;0.674;0.556;0.474	T	0.51803	-0.8659	10	0.41790	T	0.15	-7.0387	14.7148	0.69259	0.0:0.9307:0.0:0.0693	.	984;995;952;1019	Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	Q	995;953;1019	ENSP00000356403:R995Q;ENSP00000356401:R953Q;ENSP00000294725:R1019Q	ENSP00000294725:R1019Q	R	-	2	0	KCNT2	194494102	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	7.487000	0.81328	1.437000	0.47472	-0.148000	0.13756	CGA		0.512	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		120	311	0	0	0	1	0	120	311				
TBC1D12	23232	broad.mit.edu	37	10	96269882	96269882	+	Silent	SNP	A	A	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr10:96269882A>G	ENST00000225235.4	+	8	1745	c.1635A>G	c.(1633-1635)gaA>gaG	p.E545E	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	545	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCAGTCTGGAATTAATTAAGT	0.353																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20						c.(1633-1635)gaA>gaG		TBC1 domain family, member 12							190.0	175.0	180.0					10																	96269882		1848	4101	5949	SO:0001819	synonymous_variant	23232					intracellular	Rab GTPase activator activity	g.chr10:96269882A>G	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.1635A>G	10.37:g.96269882A>G						TBC1D12_ENST00000485048.1_3'UTR	p.E545E	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			8	1745	+		Colorectal(252;0.0429)	545			Rab-GAP TBC.		Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Silent	SNP	ENST00000225235.4	37	c.1635A>G	CCDS41553.1																																																																																				0.353	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			68	333	0	0	0	1	0	68	333				
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	lincRNA	SNP	T	T	A	rs6583274	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884									long intergenic non-protein coding RNA 969																		CCCTTTGAGGTGCACTGGAGG	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		36746	0.1855		0.16	False		,,,				2504	0.1748					ENST00000445430.1																			0																																																			0							g.chr3:195410687T>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410687T>A														0	1884	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	90	0	0	0	1	0	4	90				
NLRP4	147945	broad.mit.edu	37	19	56369355	56369355	+	Missense_Mutation	SNP	C	C	T	rs370421219	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:56369355C>T	ENST00000301295.6	+	3	1018	c.596C>T	c.(595-597)aCg>aTg	p.T199M	NLRP4_ENST00000346986.5_Missense_Mutation_p.T199M|NLRP4_ENST00000587891.1_Missense_Mutation_p.T124M	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	199	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.T199M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTGCCGCCAACGAGTTTGGCT	0.517													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19917	0.0		0.0	False		,,,				2504	0.001					ENST00000301295.6																			1	Substitution - Missense(1)	p.T199M(1)	upper_aerodigestive_tract(1)	breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(595-597)aCg>aTg		NLR family, pyrin domain containing 4		C	MET/THR	2,4404	4.2+/-10.8	0,2,2201	101.0	101.0	101.0		596	-0.4	0.0	19		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP4	NM_134444.4	81	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	199/995	56369355	3,13003	2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369355C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.596C>T	19.37:g.56369355C>T	ENSP00000301295:p.Thr199Met					NLRP4_ENST00000587891.1_Missense_Mutation_p.T124M|NLRP4_ENST00000346986.5_Missense_Mutation_p.T199M	p.T199M	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1018	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	199			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.596C>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	8.234	0.805414	0.16467	4.54E-4	1.16E-4	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.78707	-1.2;-1.2	4.11	-0.4	0.12411	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.60586	0.2280	L	0.33485	1.01	0.09310	N	1	B;B;B	0.32128	0.063;0.051;0.357	B;B;B	0.24394	0.025;0.024;0.053	T	0.45249	-0.9274	9	0.33940	T	0.23	.	6.757	0.23520	0.0:0.4886:0.0:0.5114	.	199;124;199	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	M	199	ENSP00000301295:T199M;ENSP00000344787:T199M	ENSP00000301295:T199M	T	+	2	0	NLRP4	61061167	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.970000	0.03810	0.152000	0.19188	-1.020000	0.02445	ACG		0.517	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		196	748	0	0	0	1	0	196	748				
DYSF	8291	broad.mit.edu	37	2	71795377	71795377	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:71795377G>A	ENST00000258104.3	+	26	2996	c.2719G>A	c.(2719-2721)Gtc>Atc	p.V907I	DYSF_ENST00000409762.1_Missense_Mutation_p.V924I|DYSF_ENST00000410041.1_Missense_Mutation_p.V925I|DYSF_ENST00000410020.3_Missense_Mutation_p.V925I|DYSF_ENST00000409366.1_Missense_Mutation_p.V908I|DYSF_ENST00000409651.1_Missense_Mutation_p.V939I|DYSF_ENST00000409744.1_Missense_Mutation_p.V894I|DYSF_ENST00000394120.2_Missense_Mutation_p.V908I|DYSF_ENST00000409582.3_Missense_Mutation_p.V924I|DYSF_ENST00000413539.2_Missense_Mutation_p.V938I|DYSF_ENST00000429174.2_Missense_Mutation_p.V907I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	907					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTTTTCTGACGTCACGGGCAA	0.592																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(2719-2721)Gtc>Atc		dysferlin							197.0	202.0	200.0					2																	71795377		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71795377G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2719G>A	2.37:g.71795377G>A	ENSP00000258104:p.Val907Ile					DYSF_ENST00000409582.3_Missense_Mutation_p.V924I|DYSF_ENST00000429174.2_Missense_Mutation_p.V907I|DYSF_ENST00000394120.2_Missense_Mutation_p.V908I|DYSF_ENST00000409651.1_Missense_Mutation_p.V939I|DYSF_ENST00000413539.2_Missense_Mutation_p.V938I|DYSF_ENST00000410020.3_Missense_Mutation_p.V925I|DYSF_ENST00000409744.1_Missense_Mutation_p.V894I|DYSF_ENST00000409762.1_Missense_Mutation_p.V924I|DYSF_ENST00000410041.1_Missense_Mutation_p.V925I|DYSF_ENST00000409366.1_Missense_Mutation_p.V908I	p.V907I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			26	2996	+			907					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.2719G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	9.616	1.132447	0.21041	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83075	-1.67;-1.68;-1.68;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.68	4.94	4.06	0.47325	Ferlin/Peroxisome membrane (1);	0.213952	0.40385	N	0.001118	T	0.73040	0.3536	L	0.28344	0.845	0.39564	D	0.969175	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.20261	0.039;0.039;0.039;0.011;0.043;0.005;0.012;0.012;0.011;0.003;0.002;0.011;0.011;0.007	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.23150	0.03;0.03;0.018;0.018;0.03;0.018;0.03;0.044;0.018;0.005;0.007;0.018;0.018;0.008	T	0.69228	-0.5200	10	0.46703	T	0.11	-30.2846	11.1273	0.48325	0.091:0.0:0.909:0.0	.	939;925;908;894;925;894;924;893;938;924;907;893;908;907	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	I	938;924;924;907;907;939;908;894;908;925;925	ENSP00000407046:V938I;ENSP00000387137:V924I;ENSP00000386547:V924I;ENSP00000398305:V907I;ENSP00000258104:V907I;ENSP00000386683:V939I;ENSP00000377678:V908I;ENSP00000386285:V894I;ENSP00000386512:V908I;ENSP00000386881:V925I;ENSP00000386617:V925I	ENSP00000258104:V907I	V	+	1	0	DYSF	71648885	0.896000	0.30565	0.593000	0.28771	0.251000	0.25915	1.328000	0.33758	1.080000	0.41073	0.448000	0.29417	GTC		0.592	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		263	1483	0	0	0	1	0	263	1483				
TRPT1	83707	broad.mit.edu	37	11	63991808	63991808	+	Missense_Mutation	SNP	G	G	A	rs116905598	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr11:63991808G>A	ENST00000317459.6	-	6	676	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	TRPT1_ENST00000394547.3_Missense_Mutation_p.R121W|TRPT1_ENST00000541278.1_Missense_Mutation_p.R170W|NUDT22_ENST00000279206.3_5'Flank|TRPT1_ENST00000546133.1_Missense_Mutation_p.R44W|TRPT1_ENST00000540472.1_5'Flank|TRPT1_ENST00000394546.2_Missense_Mutation_p.R172W|NUDT22_ENST00000441250.2_5'Flank|TRPT1_ENST00000546089.1_Missense_Mutation_p.R121W			Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	170					regulation of protein kinase activity (GO:0045859)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)		tRNA 2'-phosphotransferase activity (GO:0000215)			lung(2)|skin(1)	3						CAATGGGACCGCATGCCTGCA	0.622													G|||	3	0.000599042	0.0	0.0	5008	,	,		20377	0.0		0.003	False		,,,				2504	0.0					ENST00000394546.2																			0				lung(2)|skin(1)	3						c.(514-516)Cgg>Tgg		tRNA phosphotransferase 1		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4402		0,0,2201	66.0	62.0	63.0		508,514,508,508,508,361	1.9	0.9	11	dbSNP_133	63	10,8584	8.4+/-32.0	0,10,4287	yes	missense,missense,missense,missense,missense,missense	TRPT1	NM_001033678.3,NM_001160389.1,NM_001160390.1,NM_001160392.1,NM_001160393.1,NM_031472.3	101,101,101,101,101,101	0,10,6488	AA,AG,GG		0.1164,0.0,0.0769	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	170/254,172/256,170/254,170/217,170/255,121/205	63991808	10,12986	2201	4297	6498	SO:0001583	missense	83707						tRNA 2'-phosphotransferase activity	g.chr11:63991808G>A		CCDS31595.1, CCDS44639.1, CCDS53652.1, CCDS53653.1	11q13	2012-05-03			ENSG00000149743	ENSG00000149743			20316	protein-coding gene	gene with protein product	"""tRNA splicing 2' phosphotransferase 1"""	610470				14504659	Standard	NM_001160389		Approved	MGC11134	uc010rnc.2	Q86TN4	OTTHUMG00000167844	ENST00000317459.6:c.508C>T	11.37:g.63991808G>A	ENSP00000314073:p.Arg170Trp					TRPT1_ENST00000394547.3_Missense_Mutation_p.R121W|TRPT1_ENST00000541278.1_Missense_Mutation_p.R170W|TRPT1_ENST00000546133.1_Missense_Mutation_p.R44W|TRPT1_ENST00000546089.1_Missense_Mutation_p.R121W|TRPT1_ENST00000317459.6_Missense_Mutation_p.R170W	p.R172W	NM_001033678.3|NM_001160389.1|NM_001160390.1|NM_001160393.1	NP_001028850.2|NP_001153861.1|NP_001153862.1|NP_001153865.1	Q86TN4	TRPT1_HUMAN			6	727	-			170		H -> R (in dbSNP:rs1059440).			A8MU17|A8MYC9|F5H2B2|Q9BSB9	Missense_Mutation	SNP	ENST00000317459.6	37	c.514C>T	CCDS31595.1	3|3	0.0013736263736263737|0.0013736263736263737	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	3|3	0.00395778364116095|0.00395778364116095	G|G	17.24|17.24	3.338793|3.338793	0.60963|0.60963	0.0|0.0	0.001164|0.001164	ENSG00000149743|ENSG00000149743	ENST00000544286|ENST00000394547;ENST00000394546;ENST00000541278;ENST00000546133;ENST00000317459;ENST00000546089;ENST00000545812	.|T;T;T;T;T;T;T	.|0.60797	.|0.16;0.16;0.16;0.16;0.16;0.16;0.16	5.1|5.1	1.9|1.9	0.25705|0.25705	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79281|0.79281	0.4419|0.4419	H|H	0.97103|0.97103	3.94|3.94	0.53005|0.53005	D|D	0.999963|0.999963	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.999;0.999;1.0	T|T	0.76761|0.76761	-0.2840|-0.2840	5|10	.|0.87932	.|D	.|0	-21.0301|-21.0301	4.4053|4.4053	0.11406|0.11406	0.0798:0.1318:0.5185:0.2698|0.0798:0.1318:0.5185:0.2698	.|.	.|170;172;121;170	.|F5H2B2;A8MU17;Q86TN4-2;Q86TN4	.|.;.;.;TRPT1_HUMAN	V|W	33|121;172;170;44;170;121;172	.|ENSP00000378051:R121W;ENSP00000378050:R172W;ENSP00000438683:R170W;ENSP00000439586:R44W;ENSP00000314073:R170W;ENSP00000437741:R121W;ENSP00000442066:R172W	.|ENSP00000314073:R170W	A|R	-|-	2|1	0|2	TRPT1|TRPT1	63748384|63748384	1.000000|1.000000	0.71417|0.71417	0.891000|0.891000	0.34965|0.34965	0.708000|0.708000	0.40852|0.40852	1.278000|1.278000	0.33179|0.33179	0.640000|0.640000	0.30582|0.30582	0.555000|0.555000	0.69702|0.69702	GCG|CGG		0.622	TRPT1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396579.1	NM_031472		6	297	0	0	0	1	0	6	297				
RLTPR	146206	broad.mit.edu	37	16	67682073	67682073	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:67682073C>T	ENST00000334583.6	+	14	1518	c.1190C>T	c.(1189-1191)gCg>gTg	p.A397V	RLTPR_ENST00000545661.1_Intron	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	397					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ACCGGCAGGGCGGACTGGAGG	0.692																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(1189-1191)gCg>gTg		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							19.0	22.0	21.0					16																	67682073		2002	4127	6129	SO:0001583	missense	146206							g.chr16:67682073C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1190C>T	16.37:g.67682073C>T	ENSP00000334958:p.Ala397Val					RLTPR_ENST00000545661.1_Intron	p.A397V	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	14	1518	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	397					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.1190C>T	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	7.612	0.675061	0.14841	.	.	ENSG00000159753	ENST00000334583	T	0.13307	2.6	3.45	-2.7	0.06004	.	5.763050	0.00786	N	0.001302	T	0.07098	0.0180	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24404	-1.0161	10	0.21014	T	0.42	-19.0545	2.4679	0.04557	0.3865:0.2967:0.0:0.3169	.	397	Q6F5E8	LR16C_HUMAN	V	397	ENSP00000334958:A397V	ENSP00000334958:A397V	A	+	2	0	RLTPR	66239574	0.000000	0.05858	0.000000	0.03702	0.183000	0.23260	-2.040000	0.01416	-0.255000	0.09486	0.462000	0.41574	GCG		0.692	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		33	62	0	0	0	1	0	33	62				
NLGN3	54413	broad.mit.edu	37	X	70389792	70389792	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:70389792C>T	ENST00000358741.3	+	8	2695	c.2392C>T	c.(2392-2394)Cgc>Tgc	p.R798C	NLGN3_ENST00000374051.3_Missense_Mutation_p.R778C|NLGN3_ENST00000536169.1_Missense_Mutation_p.R758C|NLGN3_ENST00000476589.1_3'UTR	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	798					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.R778C(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GACCCTGCGGCGCTCCCCGGA	0.612																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			1	Substitution - Missense(1)	p.R778C(1)	ovary(1)	biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(2332-2334)Cgc>Tgc		neuroligin 3							102.0	70.0	81.0					X																	70389792		2202	4297	6499	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70389792C>T	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.2392C>T	X.37:g.70389792C>T	ENSP00000351591:p.Arg798Cys					NLGN3_ENST00000536169.1_Missense_Mutation_p.R758C|NLGN3_ENST00000358741.3_Missense_Mutation_p.R798C|NLGN3_ENST00000476589.1_3'UTR	p.R778C	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			7	2654	+	Renal(35;0.156)		798					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.2332C>T	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346340	0.61073	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000358741	T;T;T	0.73258	-0.7;-0.73;-0.73	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.82907	0.5139	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.76071	0.97;0.97;0.987	D	0.85078	0.0944	10	0.87932	D	0	.	12.5627	0.56291	0.1658:0.8342:0.0:0.0	.	758;798;778	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	C	758;778;798	ENSP00000445298:R758C;ENSP00000363163:R778C;ENSP00000351591:R798C	ENSP00000351591:R798C	R	+	1	0	NLGN3	70306517	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.794000	0.55492	2.310000	0.77875	0.525000	0.51046	CGC		0.612	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		16	41	0	0	0	1	0	16	41				
VRK3	51231	broad.mit.edu	37	19	50504080	50504080	+	Silent	SNP	T	T	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:50504080T>C	ENST00000599538.1	-	6	1243	c.579A>G	c.(577-579)tcA>tcG	p.S193S	VRK3_ENST00000593919.1_Silent_p.S193S|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594092.1_Silent_p.S193S|VRK3_ENST00000316763.3_Silent_p.S193S|VRK3_ENST00000594948.1_Silent_p.S193S|VRK3_ENST00000601912.1_Silent_p.S143S|VRK3_ENST00000443401.2_Missense_Mutation_p.Q13R|VRK3_ENST00000377011.2_Silent_p.S143S|VRK3_ENST00000601341.1_Silent_p.S143S			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	193	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TCTGTGGTCCTGAGTCACAGG	0.542																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	ENST00000443401.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23						c.(37-39)cAg>cGg		vaccinia related kinase 3							119.0	99.0	106.0					19																	50504080		2203	4300	6503	SO:0001819	synonymous_variant	51231					nucleus	ATP binding|protein kinase activity	g.chr19:50504080T>C	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.579A>G	19.37:g.50504080T>C						VRK3_ENST00000316763.3_Silent_p.S193S|VRK3_ENST00000594948.1_Silent_p.S193S|VRK3_ENST00000601341.1_Silent_p.S143S|VRK3_ENST00000593919.1_Silent_p.S193S|VRK3_ENST00000594092.1_Silent_p.S193S|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000599538.1_Silent_p.S193S|VRK3_ENST00000377011.2_Silent_p.S143S|VRK3_ENST00000601912.1_Silent_p.S143S	p.Q13R			Q8IV63	VRK3_HUMAN		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	5	516	-		all_neural(266;0.0459)|Ovarian(192;0.0481)	0					A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	c.38A>G	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	T	9.531	1.110884	0.20714	.	.	ENSG00000105053	ENST00000443401	T	0.29397	1.57	3.45	-0.215	0.13157	.	.	.	.	.	T	0.10937	0.0267	.	.	.	0.09310	N	0.999994	B	0.09022	0.002	B	0.12156	0.007	T	0.35724	-0.9777	8	0.02654	T	1	-1.2996	6.4127	0.21700	0.0:0.5503:0.0:0.4497	.	13	B4DGW1	.	R	13	ENSP00000414907:Q13R	ENSP00000414907:Q13R	Q	-	2	0	VRK3	55195892	0.001000	0.12720	0.011000	0.14972	0.009000	0.06853	-0.829000	0.04415	-0.078000	0.12730	0.533000	0.62120	CAG		0.542	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440		25	161	0	0	0	1	0	25	161				
CROCCP2	84809	broad.mit.edu	37	1	16946396	16946396	+	lincRNA	SNP	C	C	T	rs367013	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:16946396C>T	ENST00000412962.1	-	0	1123				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TGCTGCAGGGCAGCAATCTCC	0.667																																						ENST00000412962.1																			0																																																			0							g.chr1:16946396C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946396C>T														0	1123	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.667	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		14	158	0	0	0	1	0	14	158				
LPA	4018	broad.mit.edu	37	6	161032642	161032642	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr6:161032642G>C	ENST00000316300.5	-	16	2599	c.2555C>G	c.(2554-2556)tCt>tGt	p.S852C	LPA_ENST00000447678.1_Missense_Mutation_p.S852C			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3360	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGTGTCATAGATGACCAAGC	0.493																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(2554-2556)tCt>tGt		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						199.0	215.0	210.0					6																	161032642		1235	2560	3795	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161032642G>C	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2555C>G	6.37:g.161032642G>C	ENSP00000321334:p.Ser852Cys					LPA_ENST00000316300.5_Missense_Mutation_p.S852C	p.S852C	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	17	2675	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3360			Kringle 8.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.2555C>G	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	10.02	1.236595	0.22711	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.67698	-0.28;-0.28	2.17	2.17	0.27698	Kringle (4);Kringle-like fold (1);	.	.	.	.	D	0.83589	0.5287	H	0.99238	4.48	0.20074	N	0.999939	D	0.61697	0.99	D	0.81914	0.995	T	0.72228	-0.4354	9	0.66056	D	0.02	.	7.8282	0.29328	0.0:0.0:1.0:0.0	.	3360	P08519	APOA_HUMAN	C	852	ENSP00000321334:S852C;ENSP00000395608:S852C	ENSP00000321334:S852C	S	-	2	0	LPA	160952632	0.944000	0.32072	0.268000	0.24571	0.268000	0.26511	4.700000	0.61803	1.217000	0.43442	0.194000	0.17425	TCT		0.493	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		21	1301	0	0	0	1	0	21	1301				
MROH7	374977	broad.mit.edu	37	1	55138848	55138848	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:55138848A>T	ENST00000421030.2	+	8	1969	c.1684A>T	c.(1684-1686)Agc>Tgc	p.S562C	MROH7_ENST00000339553.5_Missense_Mutation_p.S562C|MROH7_ENST00000545244.1_Missense_Mutation_p.S130C|MROH7_ENST00000395690.2_Missense_Mutation_p.S562C|MROH7_ENST00000409996.1_Missense_Mutation_p.S130C|MROH7_ENST00000454855.2_Missense_Mutation_p.S80C|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.S562C	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	562						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TGGGCTGAAGAGCATCTTgga	0.597																																						ENST00000414150.2																			0											c.(1684-1686)Agc>Tgc		maestro heat-like repeat family member 7							30.0	30.0	30.0					1																	55138848		1963	4144	6107	SO:0001583	missense	374977							g.chr1:55138848A>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1684A>T	1.37:g.55138848A>T	ENSP00000396622:p.Ser562Cys					MROH7_ENST00000339553.5_Missense_Mutation_p.S562C|MROH7_ENST00000454855.2_Missense_Mutation_p.S80C|MROH7_ENST00000545244.1_Missense_Mutation_p.S130C|MROH7_ENST00000421030.2_Missense_Mutation_p.S562C|MROH7_ENST00000409996.1_Missense_Mutation_p.S130C|MROH7_ENST00000395690.2_Missense_Mutation_p.S562C	p.S562C							8	1962	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.1684A>T	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	A	18.02	3.531101	0.64972	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28;3.28	4.0	4.0	0.46444	.	0.100494	0.43747	D	0.000529	T	0.15782	0.0380	L	0.48362	1.52	0.31048	N	0.715548	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.78314	0.991;0.989;0.963	T	0.01259	-1.1403	10	0.52906	T	0.07	-14.8807	9.2791	0.37718	1.0:0.0:0.0:0.0	.	562;562;130	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	C	562;130;587;562;130;80;562	ENSP00000396622:S562C;ENSP00000442333:S130C;ENSP00000343211:S562C;ENSP00000387048:S130C;ENSP00000401130:S80C;ENSP00000379044:S562C	ENSP00000343211:S562C	S	+	1	0	HEATR8	54911436	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.642000	0.54367	1.687000	0.51057	0.529000	0.55759	AGC		0.597	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		9	104	0	0	0	1	0	9	104				
NCOR1	9611	broad.mit.edu	37	17	16089977	16089977	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:16089977A>G	ENST00000268712.3	-	3	390	c.133T>C	c.(133-135)Tcc>Ccc	p.S45P	NCOR1_ENST00000395848.1_Intron|NCOR1_ENST00000395851.1_Missense_Mutation_p.S45P	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	45	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGATGAGAGGAACGATAATCA	0.403																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(133-135)Tcc>Ccc		nuclear receptor corepressor 1							88.0	81.0	83.0					17																	16089977		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16089977A>G	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.133T>C	17.37:g.16089977A>G	ENSP00000268712:p.Ser45Pro					NCOR1_ENST00000395851.1_Missense_Mutation_p.S45P|NCOR1_ENST00000395848.1_Intron	p.S45P	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	3	390	-			45			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.133T>C	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.703488	0.30232	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000458113;ENST00000411510;ENST00000436828;ENST00000430577	T;T	0.47528	0.84;1.43	5.78	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.57257	0.2041	L	0.46157	1.445	0.80722	D	1	B;P;P;P;D;D	0.69078	0.396;0.94;0.528;0.94;0.995;0.997	B;B;B;B;P;D	0.63793	0.135;0.441;0.244;0.441;0.829;0.918	T	0.56080	-0.8038	10	0.48119	T	0.1	-1.5681	11.1278	0.48328	0.928:0.0:0.072:0.0	.	45;45;45;45;45;45	E7EU93;E7EV02;Q3B773;E7EW50;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	P	45	ENSP00000268712:S45P;ENSP00000379192:S45P	ENSP00000268712:S45P	S	-	1	0	NCOR1	16030702	1.000000	0.71417	0.969000	0.41365	0.777000	0.43975	4.544000	0.60691	1.006000	0.39211	0.460000	0.39030	TCC		0.403	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		40	266	0	0	0	1	0	40	266				
CCT6P3	643180	broad.mit.edu	37	7	64530103	64530103	+	RNA	SNP	G	G	A	rs369683052		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:64530103G>A	ENST00000426828.1	+	0	923				SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		TGACTGCTTGGGACATGCAGG	0.388																																						ENST00000426828.1																			0																																																			0							g.chr7:64530103G>A			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64530103G>A								NR_033416.1						0	923	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.388	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			5	223	0	0	0	1	0	5	223				
EFCAB6	64800	broad.mit.edu	37	22	44083353	44083353	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:44083353A>T	ENST00000262726.7	-	11	1393	c.1140T>A	c.(1138-1140)aaT>aaA	p.N380K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.N228K|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.N380K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTACATACCTATTTCTTTTTG	0.299																																						ENST00000262726.7																			1	Substitution - Missense(1)	p.N380K(1)	prostate(1)	breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1138-1140)aaT>aaA		EF-hand calcium binding domain 6							37.0	37.0	37.0					22																	44083353		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44083353A>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1140T>A	22.37:g.44083353A>T	ENSP00000262726:p.Asn380Lys					EFCAB6_ENST00000396231.2_Missense_Mutation_p.N228K|EFCAB6_ENST00000358439.4_Intron	p.N380K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			11	1393	-		Ovarian(80;0.0247)|all_neural(38;0.025)	380					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1140T>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	A	0.081	-1.183343	0.01620	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.13778	2.57;2.56	4.68	-3.22	0.05125	.	0.708763	0.12976	N	0.423735	T	0.07954	0.0199	L	0.51422	1.61	0.09310	N	0.999999	B;B	0.31077	0.307;0.083	B;B	0.26094	0.03;0.066	T	0.42965	-0.9420	10	0.06365	T	0.9	-10.7463	5.9226	0.19091	0.3674:0.0:0.4796:0.153	.	380;380	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	K	228;380	ENSP00000379533:N228K;ENSP00000262726:N380K	ENSP00000262726:N380K	N	-	3	2	EFCAB6	42414686	0.040000	0.19996	0.014000	0.15608	0.160000	0.22226	-0.974000	0.03794	-0.452000	0.07087	-0.256000	0.11100	AAT		0.299	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		25	153	0	0	0	1	0	25	153				
SPRYD3	84926	broad.mit.edu	37	12	53459657	53459657	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:53459657C>T	ENST00000301463.4	-	11	1374	c.1288G>A	c.(1288-1290)Ggg>Agg	p.G430R	SPRYD3_ENST00000547837.1_Missense_Mutation_p.G467R	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	430								p.G430W(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ACTTTCTCCCCGCAGCTCAGC	0.567											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301463.4																			1	Substitution - Missense(1)	p.G430W(1)	lung(1)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1288-1290)Ggg>Agg		SPRY domain containing 3							167.0	145.0	152.0					12																	53459657		2203	4300	6503	SO:0001583	missense	84926							g.chr12:53459657C>T	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.1288G>A	12.37:g.53459657C>T	ENSP00000301463:p.Gly430Arg		OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	992	SPRYD3_ENST00000547837.1_Missense_Mutation_p.G467R	p.G430R	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN			11	1374	-			430					B9EG99|Q96SK5	Missense_Mutation	SNP	ENST00000301463.4	37	c.1288G>A	CCDS8845.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526414	0.85600	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	T;T	0.76839	-1.05;-1.05	5.29	5.29	0.74685	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);	0.063055	0.64402	D	0.000008	D	0.82912	0.5140	L	0.49778	1.585	0.58432	D	0.999999	D	0.69078	0.997	P	0.59056	0.851	T	0.83279	-0.0039	10	0.51188	T	0.08	.	16.8098	0.85716	0.0:1.0:0.0:0.0	.	430	Q8NCJ5	SPRY3_HUMAN	R	430;467	ENSP00000301463:G430R;ENSP00000449452:G467R	ENSP00000301463:G430R	G	-	1	0	SPRYD3	51745924	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	5.386000	0.66238	2.642000	0.89623	0.563000	0.77884	GGG		0.567	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840		134	450	0	0	0	1	0	134	450				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		11	380	0	0	0	1	0	11	380				
KRTAP10-6	386674	broad.mit.edu	37	21	46011400	46011400	+	Silent	SNP	G	G	A	rs371252868		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr21:46011400G>A	ENST00000400368.1	-	1	986	c.966C>T	c.(964-966)tcC>tcT	p.S322S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	322	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S322S(5)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGCACCACAGGAGGGGACGG	0.692																																						ENST00000400368.1																			5	Substitution - coding silent(5)	p.S322S(5)	endometrium(3)|urinary_tract(1)|prostate(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(964-966)tcC>tcT		keratin associated protein 10-6							66.0	81.0	76.0					21																	46011400		2201	4300	6501	SO:0001819	synonymous_variant	386674					keratin filament		g.chr21:46011400G>A	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.966C>T	21.37:g.46011400G>A						TSPEAR_ENST00000323084.4_Intron	p.S322S	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN			1	986	-			322			29 X 5 AA repeats of C-C-X(3).			Silent	SNP	ENST00000400368.1	37	c.966C>T	CCDS42959.1																																																																																				0.692	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		7	406	0	0	0	1	0	7	406				
TRGV5	6978	broad.mit.edu	37	7	38388960	38388960	+	RNA	SNP	T	T	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:38388960T>C	ENST00000390344.2	-	0	547									T cell receptor gamma variable 5																		ACTGTGCCTGTCCCAGGTGGC	0.478																																						ENST00000390344.2																			0																				39.0	36.0	37.0					7																	38388960		1777	3864	5641			0							g.chr7:38388960T>C	M36286		7p14	2012-02-07				ENSG00000211697		"""T cell receptors / TRG locus"""	12290	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V5"""			TCRGV5		2902186, 2969332	Standard	NG_001336		Approved	V1S5			OTTHUMG00000155101		7.37:g.38388960T>C														0	547	-									RNA	SNP	ENST00000390344.2	37																																																																																						0.478	TRGV5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338407.4	NG_001336		5	164	0	0	0	1	0	5	164				
KLK1	3816	broad.mit.edu	37	19	51322554	51322554	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:51322554A>T	ENST00000301420.2	-	5	720	c.685T>A	c.(685-687)Tca>Aca	p.S229T	CTD-2568A17.5_ENST00000326989.5_lincRNA|KLK1_ENST00000448701.2_Missense_Mutation_p.S127T	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	229	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					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)	TAGCCCCATGATGTGACACCT	0.582																																						ENST00000448701.2																			0				breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13						c.(379-381)Tca>Aca		kallikrein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						109.0	93.0	98.0					19																	51322554		2203	4300	6503	SO:0001583	missense	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51322554A>T	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.685T>A	19.37:g.51322554A>T	ENSP00000301420:p.Ser229Thr					KLK1_ENST00000301420.2_Missense_Mutation_p.S229T	p.S127T			P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	6	1703	-		all_neural(266;0.0199)	229			Peptidase S1.		Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Missense_Mutation	SNP	ENST00000301420.2	37	c.379T>A	CCDS12804.1	.	.	.	.	.	.	.	.	.	.	a	17.35	3.367908	0.61513	.	.	ENSG00000167748	ENST00000301420;ENST00000448701	D;D	0.92495	-3.05;-3.05	3.66	2.64	0.31445	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.95661	0.8589	M	0.90977	3.165	0.23809	N	0.996785	P	0.52577	0.954	D	0.64321	0.924	D	0.88183	0.2872	9	0.87932	D	0	.	5.7404	0.18089	0.8762:0.0:0.1238:0.0	.	229	P06870	KLK1_HUMAN	T	229;127	ENSP00000301420:S229T;ENSP00000400994:S127T	ENSP00000301420:S229T	S	-	1	0	KLK1	56014366	1.000000	0.71417	0.011000	0.14972	0.014000	0.08584	5.317000	0.65822	0.764000	0.33197	0.459000	0.35465	TCA		0.582	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		174	245	0	0	0	1	0	174	245				
U2AF2	11338	broad.mit.edu	37	19	56171880	56171880	+	Splice_Site	SNP	A	A	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:56171880A>C	ENST00000308924.4	+	4	270		c.e4-1		CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000450554.2_Splice_Site|U2AF2_ENST00000590551.1_5'Flank|CTD-2537I9.12_ENST00000589456.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(2)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCTCCCCCAGTCGTTCCCC	0.637																																						ENST00000450554.2																			2	Unknown(2)	p.?(2)	prostate(1)|central_nervous_system(1)	biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21						c.e4-1		U2 small nuclear RNA auxiliary factor 2							28.0	26.0	27.0					19																	56171880		2203	4300	6503	SO:0001630	splice_region_variant	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56171880A>C	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.231-1A>C	19.37:g.56171880A>C						U2AF2_ENST00000308924.4_Splice_Site		NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	4	1189	+		Colorectal(82;0.00244)|Ovarian(87;0.133)						Q96HC5	Splice_Site	SNP	ENST00000308924.4	37		CCDS12933.1	.	.	.	.	.	.	.	.	.	.	-	17.96	3.515229	0.64634	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	.	.	.	3.61	3.61	0.41365	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1346	0.42699	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	U2AF2	60863692	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.427000	0.90275	1.646000	0.50622	0.387000	0.25754	.		0.637	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279	Intron	13	149	0	0	0	1	0	13	149				
PCDH9	5101	broad.mit.edu	37	13	67802227	67802227	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:67802227C>A	ENST00000377865.2	-	1	480	c.346G>T	c.(346-348)Gtg>Ttg	p.V116L	PCDH9_ENST00000544246.1_Missense_Mutation_p.V116L|PCDH9_ENST00000328454.5_Missense_Mutation_p.V116L|PCDH9_ENST00000377861.3_Missense_Mutation_p.V116L|PCDH9_ENST00000456367.1_Missense_Mutation_p.V116L			Q9HC56	PCDH9_HUMAN	protocadherin 9	116	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGGAGGATCACCACCTCAAGT	0.408																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(346-348)Gtg>Ttg		protocadherin 9							83.0	82.0	82.0					13																	67802227		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802227C>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.346G>T	13.37:g.67802227C>A	ENSP00000367096:p.Val116Leu					PCDH9_ENST00000456367.1_Missense_Mutation_p.V116L|PCDH9_ENST00000377865.2_Missense_Mutation_p.V116L|PCDH9_ENST00000377861.3_Missense_Mutation_p.V116L|PCDH9_ENST00000328454.5_Missense_Mutation_p.V116L	p.V116L	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1037	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	116			Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.346G>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257728	0.39896	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	5.94	5.94	0.96194	Cadherin, N-terminal (1);Cadherin (3);	0.000000	0.85682	D	0.000000	T	0.31734	0.0806	L	0.28504	0.86	0.80722	D	1	B;P;P;P	0.46784	0.043;0.596;0.859;0.884	B;B;P;P	0.49922	0.048;0.324;0.492;0.626	T	0.00472	-1.1719	10	0.28530	T	0.3	.	20.3591	0.98849	0.0:1.0:0.0:0.0	.	116;116;116;116	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	L	116	ENSP00000442186:V116L;ENSP00000367096:V116L;ENSP00000401699:V116L;ENSP00000332060:V116L;ENSP00000367092:V116L	ENSP00000332060:V116L	V	-	1	0	PCDH9	66700228	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.816000	0.96949	0.561000	0.74099	GTG		0.408	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		52	541	1	0	3.94638e-17	1	4.4475e-17	52	541				
TNRC18	84629	broad.mit.edu	37	7	5410273	5410273	+	Missense_Mutation	SNP	C	C	T	rs547812685		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:5410273C>T	ENST00000430969.1	-	11	4300	c.3952G>A	c.(3952-3954)Ggc>Agc	p.G1318S	TNRC18_ENST00000399537.4_Missense_Mutation_p.G1318S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1318							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CAGGTGCTGCCGAGTACAGGC	0.662													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15758	0.0		0.0	False		,,,				2504	0.0					ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(3952-3954)Ggc>Agc		trinucleotide repeat containing 18							15.0	16.0	16.0					7																	5410273		2022	4167	6189	SO:0001583	missense	84629						DNA binding	g.chr7:5410273C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.3952G>A	7.37:g.5410273C>T	ENSP00000395538:p.Gly1318Ser					TNRC18_ENST00000430969.1_Missense_Mutation_p.G1318S	p.G1318S			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	11	4300	-		Ovarian(82;0.142)	1318					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.3952G>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	C	4.209	0.037484	0.08148	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000327499	T;T	0.10668	2.85;2.85	4.9	-0.334	0.12666	.	0.390991	0.18787	N	0.131164	T	0.05686	0.0149	N	0.25144	0.715	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.33343	-0.9872	10	0.32370	T	0.25	.	4.691	0.12781	0.0:0.5034:0.1509:0.3457	.	1318	O15417	TNC18_HUMAN	S	1318;1318;373;373	ENSP00000382452:G1318S;ENSP00000395538:G1318S	ENSP00000330383:G373S	G	-	1	0	TNRC18	5376799	0.000000	0.05858	0.002000	0.10522	0.085000	0.17905	-0.185000	0.09684	0.146000	0.19002	0.313000	0.20887	GGC		0.662	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				29	46	0	0	0	1	0	29	46				
NOTCH1	4851	broad.mit.edu	37	9	139397707	139397707	+	Silent	SNP	G	G	A	rs10521	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr9:139397707G>A	ENST00000277541.6	-	27	5169	c.5094C>T	c.(5092-5094)gaC>gaT	p.D1698D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1698					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D1699D(11)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGCGGCCACGTCGGTGGCAC	0.632			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			G|||	2772	0.553514	0.5552	0.5115	5008	,	,		17626	0.9018		0.4046	False		,,,				2504	0.3753					ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		11	Substitution - coding silent(11)	p.D1699D(11)	haematopoietic_and_lymphoid_tissue(11)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(5092-5094)gaC>gaT		notch 1		G		2208,2062		587,1034,514	57.0	67.0	64.0		5094	-4.9	0.8	9	dbSNP_52	64	3010,5508		545,1920,1794	no	coding-synonymous	NOTCH1	NM_017617.3		1132,2954,2308	AA,AG,GG		35.3369,48.2904,40.8039		1698/2556	139397707	5218,7570	2135	4259	6394	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139397707G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5094C>T	9.37:g.139397707G>A		HNSCC(8;0.001)					p.D1698D	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	27	5169	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1698					Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.5094C>T	CCDS43905.1																																																																																				0.632	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		6	227	0	0	0	1	0	6	227				
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	lincRNA	SNP	G	G	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr15:45848224G>T	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TGCAGATTTTGTTTAGCTTTT	0.318																																						ENST00000409454.1																			0																																																			0							g.chr15:45848224G>T																													15.37:g.45848224G>T														0	1219	+									RNA	SNP	ENST00000557965.1	37																																																																																						0.318	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			28	148	1	0	3.33393e-15	1	3.69858e-15	28	148				
MGRN1	23295	broad.mit.edu	37	16	4702743	4702743	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:4702743G>T	ENST00000399577.5	+	4	454	c.361G>T	c.(361-363)Gag>Tag	p.E121*	MGRN1_ENST00000262370.7_Nonsense_Mutation_p.E121*|MGRN1_ENST00000586183.1_Nonsense_Mutation_p.E121*|MGRN1_ENST00000415496.1_Nonsense_Mutation_p.E121*|MGRN1_ENST00000588994.1_Nonsense_Mutation_p.E121*	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	121					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTACAGCCTGGAGTTCACCTT	0.662																																						ENST00000399577.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(361-363)Gag>Tag		mahogunin ring finger 1, E3 ubiquitin protein ligase							35.0	44.0	41.0					16																	4702743		2066	4194	6260	SO:0001587	stop_gained	0				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4702743G>T	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.361G>T	16.37:g.4702743G>T	ENSP00000382487:p.Glu121*					MGRN1_ENST00000262370.7_Nonsense_Mutation_p.E121*|MGRN1_ENST00000415496.1_Nonsense_Mutation_p.E121*|MGRN1_ENST00000586183.1_Nonsense_Mutation_p.E121*|MGRN1_ENST00000588994.1_Nonsense_Mutation_p.E121*	p.E121*	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN			4	454	+			121					A4URL3|A4URL4|Q86W76	Nonsense_Mutation	SNP	ENST00000399577.5	37	c.361G>T	CCDS45402.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645878	0.87958	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496;ENST00000536343	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-33.4513	17.7579	0.88455	0.0:0.0:1.0:0.0	.	.	.	.	X	121	.	ENSP00000262370:E121X	E	+	1	0	MGRN1	4642744	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	9.813000	0.99286	2.537000	0.85549	0.561000	0.74099	GAG		0.662	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			34	68	1	0	1.62565e-12	1	1.77571e-12	34	68				
KRTAP6-1	337966	broad.mit.edu	37	21	31986063	31986063	+	Missense_Mutation	SNP	C	C	T	rs28567421	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr21:31986063C>T	ENST00000329122.2	-	1	186	c.161G>A	c.(160-162)cGc>cAc	p.R54H	KRTAP20-1_ENST00000334664.2_5'Flank	NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	54						cytosol (GO:0005829)|intermediate filament (GO:0005882)				breast(2)|endometrium(1)|lung(7)	10						ACAGAGGGAGCGGGAGCCATA	0.587													C|||	8	0.00159744	0.0061	0.0	5008	,	,		15898	0.0		0.0	False		,,,				2504	0.0					ENST00000329122.2																			0				breast(2)|endometrium(1)|lung(7)	10						c.(160-162)cGc>cAc		keratin associated protein 6-1		C	HIS/ARG	15,4391	22.3+/-47.3	0,15,2188	110.0	115.0	113.0		161	0.8	0.0	21	dbSNP_125	113	4,8596	3.7+/-12.6	0,4,4296	yes	missense	KRTAP6-1	NM_181602.1	29	0,19,6484	TT,TC,CC		0.0465,0.3404,0.1461	benign	54/72	31986063	19,12987	2203	4300	6503	SO:0001583	missense	337966					cytosol|intermediate filament		g.chr21:31986063C>T	AP001708	CCDS13602.1	21q22.1	2006-03-13			ENSG00000184724	ENSG00000184724		"""Keratin associated proteins"""	18931	protein-coding gene	gene with protein product						12359730	Standard	NM_181602		Approved	KAP6.1, C21orf103	uc002yop.3	Q3LI64	OTTHUMG00000057788	ENST00000329122.2:c.161G>A	21.37:g.31986063C>T	ENSP00000332690:p.Arg54His						p.R54H	NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN			1	186	-			54						Missense_Mutation	SNP	ENST00000329122.2	37	c.161G>A	CCDS13602.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	4.286	0.052327	0.08291	0.003404	4.65E-4	ENSG00000184724	ENST00000329122	T	0.20069	2.1	4.88	0.801	0.18679	.	0.870871	0.09244	U	0.828807	T	0.09158	0.0226	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.36040	-0.9764	9	0.87932	D	0	.	1.1175	0.01718	0.1567:0.4229:0.1522:0.2683	rs28567421	54	Q3LI64	KRA61_HUMAN	H	54	ENSP00000332690:R54H	ENSP00000332690:R54H	R	-	2	0	KRTAP6-1	30907934	0.001000	0.12720	0.001000	0.08648	0.118000	0.20060	-0.881000	0.04179	0.043000	0.15746	0.643000	0.83706	CGC		0.587	KRTAP6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128240.2	NM_181602		118	419	0	0	0	1	0	118	419				
APEH	327	broad.mit.edu	37	3	49723596	49723596	+	IGR	SNP	G	G	A	rs200900272		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:49723596G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.P349L	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.P335L(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667																																						ENST00000449682.2																			5	Substitution - Missense(5)	p.P335L(5)	endometrium(3)|skin(2)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1045-1047)cCc>cTc		macrophage stimulating 1 (hepatocyte growth factor-like)							12.0	16.0	15.0					3																	49723596		2189	4280	6469	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723596G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723596G>A						MST1_ENST00000383728.3_3'UTR	p.P349L	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1407	-			335			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1046C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499226	0.96355	.	.	ENSG00000173531	ENST00000449682	D	0.83250	-1.7	5.47	5.47	0.80525	.	0.000000	0.42053	D	0.000771	D	0.90256	0.6953	M	0.88450	2.955	0.80722	D	1	P	0.35793	0.521	P	0.46419	0.516	D	0.90879	0.4752	10	0.62326	D	0.03	.	18.9304	0.92563	0.0:0.0:1.0:0.0	.	349	G3XAK1	.	L	349	ENSP00000414287:P349L	ENSP00000414287:P349L	P	-	2	0	MST1	49698600	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	9.855000	0.99526	2.561000	0.86390	0.655000	0.94253	CCC		0.667	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	94	0	0	0	1	0	4	94				
PSKH1	5681	broad.mit.edu	37	16	67961230	67961230	+	Silent	SNP	C	C	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:67961230C>G	ENST00000291041.5	+	3	1130	c.960C>G	c.(958-960)ccC>ccG	p.P320P		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	320	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		GTCTCTAGCCCTGGCCTAGTG	0.587																																						ENST00000291041.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12						c.(958-960)ccC>ccG		protein serine kinase H1							115.0	93.0	101.0					16																	67961230		2198	4300	6498	SO:0001819	synonymous_variant	5681					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr16:67961230C>G	M14504	CCDS10851.1	16q22.1	2008-02-05			ENSG00000159792	ENSG00000159792			9529	protein-coding gene	gene with protein product		177015				8268911	Standard	NM_006742		Approved		uc002euv.3	P11801	OTTHUMG00000137548	ENST00000291041.5:c.960C>G	16.37:g.67961230C>G							p.P320P	NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)	3	1130	+		Ovarian(137;0.192)	320			Protein kinase.		Q9NY19	Silent	SNP	ENST00000291041.5	37	c.960C>G	CCDS10851.1																																																																																				0.587	PSKH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268882.3	NM_006742		167	308	0	0	0	1	0	167	308				
HNRNPDL	9987	broad.mit.edu	37	4	83349551	83349551	+	Silent	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:83349551C>T	ENST00000295470.5	-	2	667	c.492G>A	c.(490-492)ctG>ctA	p.L164L	HNRNPDL_ENST00000602300.1_Silent_p.L45L|ENOPH1_ENST00000509635.1_5'Flank|HNRNPDL_ENST00000514511.1_Intron|ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000349655.4_Silent_p.L45L|HNRNPDL_ENST00000502762.1_Silent_p.L164L	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	164	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										AGTACTCTGTCAGATCTTTTT	0.343																																						ENST00000295470.5																			0											c.(490-492)ctG>ctA		heterogeneous nuclear ribonucleoprotein D-like							103.0	105.0	104.0					4																	83349551		2203	4300	6503	SO:0001819	synonymous_variant	9987							g.chr4:83349551C>T	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.492G>A	4.37:g.83349551C>T						HNRNPDL_ENST00000502762.1_Silent_p.L164L|HNRNPDL_ENST00000349655.4_Silent_p.L45L|HNRNPDL_ENST00000602300.1_Silent_p.L45L|HNRNPDL_ENST00000514511.1_Intron	p.L164L	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1					2	667	-								Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Silent	SNP	ENST00000295470.5	37	c.492G>A	CCDS3593.1																																																																																				0.343	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		8	453	0	0	0	1	0	8	453				
DNAI2	64446	broad.mit.edu	37	17	72308199	72308199	+	Missense_Mutation	SNP	C	C	T	rs377582813		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:72308199C>T	ENST00000311014.6	+	12	1619	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	DNAI2_ENST00000582036.1_Missense_Mutation_p.R506W|DNAI2_ENST00000446837.2_Missense_Mutation_p.R518W|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000307504.5_Missense_Mutation_p.R375W|DNAI2_ENST00000579490.1_Missense_Mutation_p.R575W			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	518					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCGGGAGATGCGGCTGAAGGA	0.657									Kartagener syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		16566	0.001		0.0	False		,,,				2504	0.0					ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1723-1725)Cgg>Tgg		dynein, axonemal, intermediate chain 2							59.0	52.0	54.0					17																	72308199		2203	4300	6503	SO:0001583	missense	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72308199C>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1552C>T	17.37:g.72308199C>T	ENSP00000308312:p.Arg518Trp					DNAI2_ENST00000311014.6_Missense_Mutation_p.R518W|DNAI2_ENST00000446837.2_Missense_Mutation_p.R518W|DNAI2_ENST00000582036.1_Missense_Mutation_p.R506W|DNAI2_ENST00000307504.5_Missense_Mutation_p.R375W	p.R575W			Q9GZS0	DNAI2_HUMAN			11	1858	+			518					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.1723C>T	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195638	0.78902	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.34859	1.34;1.34;1.34	4.62	3.64	0.41730	.	0.058074	0.64402	D	0.000001	T	0.64527	0.2606	M	0.90705	3.14	0.58432	D	0.999993	D	0.89917	1.0	D	0.79784	0.993	T	0.71361	-0.4616	10	0.87932	D	0	-34.1547	12.0007	0.53228	0.315:0.685:0.0:0.0	.	518	Q9GZS0	DNAI2_HUMAN	W	518;375;518	ENSP00000308312:R518W;ENSP00000302929:R375W;ENSP00000400252:R518W	ENSP00000302929:R375W	R	+	1	2	DNAI2	69819794	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.401000	0.44513	0.950000	0.37743	0.485000	0.47835	CGG		0.657	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		5	200	0	0	0	1	0	5	200				
ESPNP	284729	broad.mit.edu	37	1	17023110	17023110	+	RNA	SNP	G	G	A	rs11260887|rs201639447	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:17023110G>A	ENST00000492551.1	-	0	1753					NR_026567.1				espin pseudogene																		GTTGAGCAGCGGCTGAAACCC	0.687													g|||	1622	0.323882	0.1233	0.3703	5008	,	,		35506	0.4792		0.3429	False		,,,				2504	0.3824					ENST00000492551.1																			0																																																			0							g.chr1:17023110G>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023110G>A								NR_026567.1						0	1753	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.687	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			11	124	0	0	0	1	0	11	124				
CDC14A	8556	broad.mit.edu	37	1	100843110	100843110	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:100843110C>A	ENST00000336454.3	+	3	504	c.149C>A	c.(148-150)gCa>gAa	p.A50E	CDC14A_ENST00000542213.1_5'UTR|CDC14A_ENST00000544534.1_Missense_Mutation_p.A50E|CDC14A_ENST00000370124.3_Missense_Mutation_p.A50E|AC104457.1_ENST00000401248.1_RNA|CDC14A_ENST00000370125.2_Missense_Mutation_p.A50E|CDC14A_ENST00000361544.6_Missense_Mutation_p.A50E	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	50	A.				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)		AGTTTCTATGCAGATTTTGGA	0.279																																						ENST00000370125.2																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.(148-150)gCa>gAa		cell division cycle 14A							83.0	79.0	80.0					1																	100843110		2203	4300	6503	SO:0001583	missense	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100843110C>A	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.149C>A	1.37:g.100843110C>A	ENSP00000336739:p.Ala50Glu					CDC14A_ENST00000361544.6_Missense_Mutation_p.A50E|CDC14A_ENST00000336454.3_Missense_Mutation_p.A50E|CDC14A_ENST00000544534.1_Missense_Mutation_p.A50E|CDC14A_ENST00000542213.1_5'UTR|CDC14A_ENST00000370124.3_Missense_Mutation_p.A50E	p.A50E			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	637	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	50			A.		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	c.149C>A	CCDS769.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988957	0.53934	.	.	ENSG00000079335	ENST00000455467;ENST00000370125;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.31544	0.0800	M	0.65677	2.01	0.80722	D	1	P;B;P;P;B	0.37708	0.471;0.091;0.471;0.606;0.055	B;B;B;B;B	0.33799	0.082;0.041;0.118;0.17;0.018	T	0.17077	-1.0381	10	0.38643	T	0.18	-14.0376	18.4654	0.90752	0.0:1.0:0.0:0.0	.	50;50;50;50;50	A6MA65;Q9UNH5-3;Q9UNH5;Q9UNH5-2;Q52LH9	.;.;CC14A_HUMAN;.;.	E	51;50;50;50;50;50	ENSP00000388501:A51E;ENSP00000359143:A50E;ENSP00000354916:A50E;ENSP00000359142:A50E;ENSP00000336739:A50E;ENSP00000442543:A50E	ENSP00000336739:A50E	A	+	2	0	CDC14A	100615698	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.228000	0.58619	2.660000	0.90430	0.455000	0.32223	GCA		0.279	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		29	207	1	0	6.07407e-21	1	6.95579e-21	29	207				
CAPNS1	826	broad.mit.edu	37	19	36633201	36633201	+	Splice_Site	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:36633201G>A	ENST00000246533.3	+	3	807		c.e3-1		AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Splice_Site|CAPNS1_ENST00000588780.1_Splice_Site|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000590874.1_Splice_Site|CAPNS1_ENST00000588815.1_Splice_Site	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCTCTTCGCAGCGAGGCGGCT	0.652																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)	ENST00000246533.3																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.e3-1		calpain, small subunit 1							55.0	65.0	61.0					19																	36633201		2203	4300	6503	SO:0001630	splice_region_variant	826				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:36633201G>A	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.210-1G>A	19.37:g.36633201G>A						CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000587718.1_Splice_Site|CAPNS1_ENST00000588815.1_Splice_Site|CAPNS1_ENST00000590874.1_Splice_Site|CAPNS1_ENST00000588780.1_Splice_Site		NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	807	+	Esophageal squamous(110;0.162)							A8K0P1|Q8WTX3|Q96EW0	Splice_Site	SNP	ENST00000246533.3	37		CCDS12489.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978756	0.53720	.	.	ENSG00000126247	ENST00000246533	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5225	0.67859	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAPNS1	41325041	1.000000	0.71417	0.968000	0.41197	0.522000	0.34438	5.289000	0.65656	2.564000	0.86499	0.561000	0.74099	.		0.652	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2		Intron	162	435	0	0	0	1	0	162	435				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			12	751	0	0	0	1	0	12	751				
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1411							ion channel inhibitor activity (GO:0008200)	p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383																																						ENST00000456556.1																			9	Substitution - Missense(9)	p.H662R(6)|p.H1411R(3)	kidney(6)|lung(3)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(4231-4233)cAt>cGt		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96521777T>C	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4232A>G	2.37:g.96521777T>C	ENSP00000403302:p.His1411Arg					ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R	p.H1411R							63	4316	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.4232A>G		.	.	.	.	.	.	.	.	.	.	t	1.211	-0.629664	0.03610	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.13196	2.61;2.61;2.61	1.87	0.665	0.17896	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.15870	0.014	T	0.42666	-0.9438	9	0.15952	T	0.53	.	1.8453	0.03158	0.2739:0.1735:0.0:0.5526	.	1411	Q5JPF3	AN36C_HUMAN	R	662;1411;438	ENSP00000415231:H662R;ENSP00000403302:H1411R;ENSP00000407838:H438R	ENSP00000407838:H438R	H	-	2	0	AC073995.2	95885504	1.000000	0.71417	0.011000	0.14972	0.003000	0.03518	1.050000	0.30404	0.187000	0.20147	-0.818000	0.03119	CAT		0.383	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	143	0	0	0	1	0	4	143				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		14	343	0	0	0	1	0	14	343				
HCK	3055	broad.mit.edu	37	20	30672204	30672204	+	Silent	SNP	C	C	T	rs149487671	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr20:30672204C>T	ENST00000520553.1	+	8	876	c.630C>T	c.(628-630)gaC>gaT	p.D210D	HCK_ENST00000375852.2_Silent_p.D231D|HCK_ENST00000538448.1_Silent_p.D210D|HCK_ENST00000534862.1_Silent_p.D211D|HCK_ENST00000518730.1_Silent_p.D209D|HCK_ENST00000375862.2_Silent_p.D230D	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	231	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	AGGGGAACGACGGGCTCTGCC	0.602													c|||	7	0.00139776	0.0008	0.0	5008	,	,		19351	0.0		0.006	False		,,,				2504	0.0					ENST00000534862.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(631-633)gaC>gaT		hemopoietic cell kinase		C	,,,,,	5,4401	9.9+/-24.2	0,5,2198	41.0	39.0	39.0		630,690,627,633,630,693	-6.9	0.2	20	dbSNP_134	39	34,8566	22.8+/-68.1	0,34,4266	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HCK	NM_001172129.1,NM_001172130.1,NM_001172131.1,NM_001172132.1,NM_001172133.1,NM_002110.3	,,,,,	0,39,6464	TT,TC,CC		0.3953,0.1135,0.2999	,,,,,	210/506,230/526,209/505,211/507,210/506,231/527	30672204	39,12967	2203	4300	6503	SO:0001819	synonymous_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30672204C>T	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.630C>T	20.37:g.30672204C>T						HCK_ENST00000375862.2_Silent_p.D230D|HCK_ENST00000375852.2_Silent_p.D231D|HCK_ENST00000538448.1_Silent_p.D210D|HCK_ENST00000518730.1_Silent_p.D209D|HCK_ENST00000520553.1_Silent_p.D210D	p.D211D	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		9	996	+			231			SH2.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.633C>T	CCDS54455.1																																																																																				0.602	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			48	120	0	0	0	1	0	48	120				
ELTD1	64123	broad.mit.edu	37	1	79392719	79392719	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:79392719G>T	ENST00000370742.3	-	8	998	c.935C>A	c.(934-936)tCt>tAt	p.S312Y		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	312					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GAAGTTGTCAGATGATGAAAG	0.318																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(934-936)tCt>tAt		EGF, latrophilin and seven transmembrane domain containing 1							77.0	72.0	74.0					1																	79392719		1811	4079	5890	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79392719G>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.935C>A	1.37:g.79392719G>T	ENSP00000359778:p.Ser312Tyr						p.S312Y	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	8	998	-			312					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.935C>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.677924	0.47886	.	.	ENSG00000162618	ENST00000370742	T	0.10668	2.85	6.02	5.08	0.68730	Domain of unknown function DUF3497 (1);	0.387514	0.33075	N	0.005305	T	0.13157	0.0319	L	0.47716	1.5	0.35306	D	0.783468	D	0.60160	0.987	D	0.65323	0.934	T	0.03981	-1.0987	9	.	.	.	.	11.9663	0.53038	0.0:0.1317:0.7313:0.137	.	312	Q9HBW9	ELTD1_HUMAN	Y	312	ENSP00000359778:S312Y	.	S	-	2	0	ELTD1	79165307	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	2.927000	0.48900	1.495000	0.48549	0.544000	0.68410	TCT		0.318	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		45	309	1	0	5.7616e-29	1	6.6516e-29	45	309				
GDF6	392255	broad.mit.edu	37	8	97156945	97156945	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr8:97156945G>A	ENST00000287020.5	-	2	1313	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	405					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GTTCATCAGCGTCTGGATGAT	0.602																																						ENST00000287020.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(1213-1215)aCg>aTg		growth differentiation factor 6							108.0	102.0	104.0					8																	97156945		2203	4300	6503	SO:0001583	missense	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97156945G>A		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.1214C>T	8.37:g.97156945G>A	ENSP00000287020:p.Thr405Met						p.T405M	NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN			2	1313	-	Breast(36;2.67e-05)		405					Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	c.1214C>T	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526943	0.85706	.	.	ENSG00000156466	ENST00000287020	D	0.89617	-2.54	4.95	4.95	0.65309	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95118	0.8418	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95756	0.8796	10	0.87932	D	0	.	17.1426	0.86758	0.0:0.0:1.0:0.0	.	405	Q6KF10	GDF6_HUMAN	M	405	ENSP00000287020:T405M	ENSP00000287020:T405M	T	-	2	0	GDF6	97226121	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.595000	0.98260	2.567000	0.86603	0.650000	0.86243	ACG		0.602	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		32	183	0	0	0	1	0	32	183				
FLNC	2318	broad.mit.edu	37	7	128477594	128477594	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:128477594A>G	ENST00000325888.8	+	4	1103	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	FLNC_ENST00000346177.6_Missense_Mutation_p.Y281C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	281					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCCATCGCCTATGGGCCTGGT	0.602																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(841-843)tAt>tGt		filamin C, gamma							91.0	101.0	98.0					7																	128477594		2125	4258	6383	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128477594A>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.842A>G	7.37:g.128477594A>G	ENSP00000327145:p.Tyr281Cys					FLNC_ENST00000346177.6_Missense_Mutation_p.Y281C	p.Y281C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			4	1103	+			281					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.842A>G	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.837735	0.71373	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85013	-1.93;-1.93	5.39	5.39	0.77823	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94185	0.8134	H	0.94542	3.55	0.49687	D	0.999814	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.95461	0.8543	10	0.87932	D	0	.	13.3795	0.60759	1.0:0.0:0.0:0.0	.	281;281	Q14315-2;Q14315	.;FLNC_HUMAN	C	281	ENSP00000327145:Y281C;ENSP00000344002:Y281C	ENSP00000327145:Y281C	Y	+	2	0	FLNC	128264830	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.922000	0.70036	2.043000	0.60533	0.533000	0.62120	TAT		0.602	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			136	221	0	0	0	1	0	136	221				
NEFH	4744	broad.mit.edu	37	22	29886317	29886317	+	Silent	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:29886317G>A	ENST00000310624.6	+	4	2721	c.2688G>A	c.(2686-2688)gaG>gaA	p.E896E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	902	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGAAGGAAGAGGCTGAAGATA	0.512																																						ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(2686-2688)gaG>gaA		neurofilament, heavy polypeptide							56.0	61.0	59.0					22																	29886317		2203	4300	6503	SO:0001819	synonymous_variant	4744				cell death|nervous system development	neurofilament		g.chr22:29886317G>A		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2688G>A	22.37:g.29886317G>A							p.E896E	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			4	2721	+			902			Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	c.2688G>A	CCDS13858.1																																																																																				0.512	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		43	104	0	0	0	1	0	43	104				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr20:46279860G>A	ENST00000371998.3	+	20	3977	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_ENST00000372004.3_Silent_p.Q1258Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567																																						ENST00000372004.3																			1	Substitution - coding silent(1)	p.Q1262Q(1)	endometrium(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3772-3774)caG>caA		nuclear receptor coactivator 3		G	,,,	10,4396	11.4+/-27.6	1,8,2194	53.0	58.0	56.0		3783,3759,3774,3786	-0.1	0.1	20	dbSNP_134	56	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	1,20,6482	AA,AG,GG		0.1395,0.227,0.1692	,,,	1261/1424,1253/1416,1258/1421,1262/1425	46279860	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279860G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3786G>A	20.37:g.46279860G>A						NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q	p.Q1258Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3990	+			1262			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3774G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		8	327	0	0	0	1	0	8	327				
KCNA6	3742	broad.mit.edu	37	12	4920010	4920010	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:4920010C>T	ENST00000280684.3	+	1	1669	c.803C>T	c.(802-804)aCg>aTg	p.T268M	KCNA6_ENST00000433855.1_Missense_Mutation_p.T268M|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	268					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CTGGTGGAGACGCTGTGCATT	0.562										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(802-804)aCg>aTg		potassium voltage-gated channel, shaker-related subfamily, member 6							88.0	88.0	88.0					12																	4920010		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920010C>T	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.803C>T	12.37:g.4920010C>T	ENSP00000280684:p.Thr268Met	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.T268M	p.T268M	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1669	+			268						Missense_Mutation	SNP	ENST00000280684.3	37	c.803C>T	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.738897	0.69304	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.98400	-4.91;-4.91	5.28	4.4	0.53042	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	M	0.83774	2.66	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	D	0.99694	1.1002	10	0.87932	D	0	.	13.1852	0.59677	0.0:0.924:0.0:0.076	.	268	P17658	KCNA6_HUMAN	M	268	ENSP00000408321:T268M;ENSP00000280684:T268M	ENSP00000280684:T268M	T	+	2	0	KCNA6	4790271	1.000000	0.71417	0.925000	0.36789	0.984000	0.73092	7.592000	0.82676	1.469000	0.48083	0.655000	0.94253	ACG		0.562	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		17	563	0	0	0	1	0	17	563				
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	A	rs17851045		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:25380275T>A	ENST00000256078.4	-	3	246	c.183A>T	c.(181-183)caA>caT	p.Q61H	KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	153	Substitution - Missense(153)	p.Q61H(153)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(181-183)caA>caT		Kirsten rat sarcoma viral oncogene homolog							109.0	98.0	102.0					12																	25380275		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380275T>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.183A>T	12.37:g.25380275T>A	ENSP00000256078:p.Gln61His	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	p.Q61H	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		3	374	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		61		Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.183A>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243092	0.79912	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	rs17851045	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA		0.423	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		185	284	0	0	0	1	0	185	284				
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TCACTGACATCGAAGGCTGCC	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659593C>T	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659593C>T								NR_003714.1						0	3118	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		7	109	0	0	0	1	0	7	109				
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				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)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189.0	188.0	188.0					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			14	846	0	0	0	1	0	14	846				
LINC00969	440993	broad.mit.edu	37	3	195404651	195404651	+	lincRNA	SNP	C	C	G	rs1996904		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508									long intergenic non-protein coding RNA 969																		TGTCACGAATCTTGACAAATT	0.418																																						ENST00000445430.1																			0																																																			0							g.chr3:195404651C>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195404651C>G														0	1508	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.418	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			7	179	0	0	0	1	0	7	179				
NCOR1P1	149934	broad.mit.edu	37	20	26084094	26084094	+	RNA	SNP	T	T	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr20:26084094T>C	ENST00000478176.1	-	0	363					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1																		aaaacataCATTCTTAGAATA	0.299																																						ENST00000478176.1																			0																				76.0	58.0	64.0					20																	26084094		692	1588	2280			0							g.chr20:26084094T>C	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084094T>C								NR_003678.1						0	363	-								A2RUA0	RNA	SNP	ENST00000478176.1	37																																																																																						0.299	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			6	105	0	0	0	1	0	6	105				
FCGBP	8857	broad.mit.edu	37	19	40368392	40368392	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:40368392T>C	ENST00000221347.6	-	28	12963	c.12956A>G	c.(12955-12957)gAc>gGc	p.D4319G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4319						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)			GCAAAGAATGTCACGGTCCCC	0.622																																						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.(12955-12957)gAc>gGc		Fc fragment of IgG binding protein							176.0	177.0	176.0					19																	40368392		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40368392T>C	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.12956A>G	19.37:g.40368392T>C	ENSP00000221347:p.Asp4319Gly						p.D4319G	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12963	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4319					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12956A>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	3.672	-0.067331	0.07273	.	.	ENSG00000090920	ENST00000221347	T	0.78246	-1.16	4.08	4.08	0.47627	Uncharacterised domain, cysteine-rich (2);	0.412810	0.23912	U	0.043327	T	0.74442	0.3717	M	0.61703	1.905	0.22280	N	0.999235	B	0.21071	0.051	B	0.22386	0.039	T	0.68205	-0.5470	10	0.54805	T	0.06	.	12.4404	0.55621	0.0:0.0:0.0:1.0	.	4319	Q9Y6R7	FCGBP_HUMAN	G	4319	ENSP00000221347:D4319G	ENSP00000221347:D4319G	D	-	2	0	FCGBP	45060232	0.000000	0.05858	0.759000	0.31340	0.040000	0.13550	0.602000	0.24134	1.848000	0.53677	0.254000	0.18369	GAC		0.622	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		42	972	0	0	0	1	0	42	972				
KLK1	3816	broad.mit.edu	37	19	51322555	51322555	+	Silent	SNP	T	T	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:51322555T>G	ENST00000301420.2	-	5	719	c.684A>C	c.(682-684)acA>acC	p.T228T	CTD-2568A17.5_ENST00000326989.5_lincRNA|KLK1_ENST00000448701.2_Silent_p.T126T	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	228	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					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)	AGCCCCATGATGTGACACCTT	0.577																																						ENST00000448701.2																			0				breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13						c.(376-378)acA>acC		kallikrein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						110.0	93.0	99.0					19																	51322555		2203	4300	6503	SO:0001819	synonymous_variant	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51322555T>G	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.684A>C	19.37:g.51322555T>G						KLK1_ENST00000301420.2_Silent_p.T228T	p.T126T			P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	6	1702	-		all_neural(266;0.0199)	228			Peptidase S1.		Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Silent	SNP	ENST00000301420.2	37	c.378A>C	CCDS12804.1																																																																																				0.577	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		173	246	0	0	0	1	0	173	246				
PCDH9	5101	broad.mit.edu	37	13	67802228	67802228	+	Silent	SNP	C	C	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:67802228C>A	ENST00000377865.2	-	1	479	c.345G>T	c.(343-345)gtG>gtT	p.V115V	PCDH9_ENST00000544246.1_Silent_p.V115V|PCDH9_ENST00000328454.5_Silent_p.V115V|PCDH9_ENST00000377861.3_Silent_p.V115V|PCDH9_ENST00000456367.1_Silent_p.V115V			Q9HC56	PCDH9_HUMAN	protocadherin 9	115	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGAGGATCACCACCTCAAGTT	0.413																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(343-345)gtG>gtT		protocadherin 9							83.0	81.0	82.0					13																	67802228		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802228C>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.345G>T	13.37:g.67802228C>A						PCDH9_ENST00000456367.1_Silent_p.V115V|PCDH9_ENST00000377865.2_Silent_p.V115V|PCDH9_ENST00000377861.3_Silent_p.V115V|PCDH9_ENST00000328454.5_Silent_p.V115V	p.V115V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1036	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	115			Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.345G>T	CCDS9444.1																																																																																				0.413	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		52	548	1	0	6.34439e-16	1	7.09373e-16	52	548				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		10	236	0	0	0	1	0	10	236				
GOLPH3	64083	broad.mit.edu	37	5	32126388	32126388	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr5:32126388G>A	ENST00000265070.6	-	4	1142	c.827C>T	c.(826-828)cCt>cTt	p.P276L	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	276					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						TTCCACTTCAGGGTCTAAGTC	0.542																																						ENST00000265070.6																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(826-828)cCt>cTt		golgi phosphoprotein 3 (coat-protein)							97.0	85.0	89.0					5																	32126388		2203	4300	6503	SO:0001583	missense	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32126388G>A	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.827C>T	5.37:g.32126388G>A	ENSP00000265070:p.Pro276Leu						p.P276L	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN			4	1142	-			276					Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	37	c.827C>T	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	G	6.769	0.510717	0.12883	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.65101	0.2659	L	0.51422	1.61	0.80722	D	1	B	0.24963	0.115	B	0.31614	0.133	T	0.58803	-0.7572	9	0.11485	T	0.65	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	276	Q9H4A6	GOLP3_HUMAN	L	276;259	.	ENSP00000265070:P276L	P	-	2	0	GOLPH3	32162145	1.000000	0.71417	0.966000	0.40874	0.010000	0.07245	9.414000	0.97362	2.941000	0.99782	0.655000	0.94253	CCT		0.542	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		171	444	0	0	0	1	0	171	444				
DOPEY2	9980	broad.mit.edu	37	21	37609603	37609603	+	Missense_Mutation	SNP	G	G	C	rs375875949		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr21:37609603G>C	ENST00000399151.3	+	16	2751	c.2666G>C	c.(2665-2667)cGg>cCg	p.R889P		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	889					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGAGACCCGGGAGCATCAC	0.592																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2665-2667)cGg>cCg		dopey family member 2		G	PRO/ARG	1,4405	2.1+/-5.4	0,1,2202	116.0	97.0	103.0		2666	2.0	1.0	21		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	DOPEY2	NM_005128.2	103	0,2,6501	CC,CG,GG		0.0116,0.0227,0.0154	probably-damaging	889/2299	37609603	2,13004	2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37609603G>C	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2666G>C	21.37:g.37609603G>C	ENSP00000382104:p.Arg889Pro						p.R889P	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			16	2751	+			889					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.2666G>C	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887339	0.52014	2.27E-4	1.16E-4	ENSG00000142197	ENST00000399151	T	0.62498	0.02	5.3	2.04	0.26737	.	0.059391	0.64402	D	0.000004	T	0.64283	0.2584	L	0.34521	1.04	0.36894	D	0.890071	D	0.69078	0.997	D	0.65010	0.931	T	0.65203	-0.6225	10	0.31617	T	0.26	-5.6675	11.8806	0.52574	0.2241:0.0:0.7759:0.0	.	889	Q9Y3R5	DOP2_HUMAN	P	889	ENSP00000382104:R889P	ENSP00000382104:R889P	R	+	2	0	DOPEY2	36531473	0.845000	0.29573	0.997000	0.53966	0.979000	0.70002	3.059000	0.49947	0.635000	0.30488	0.591000	0.81541	CGG		0.592	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		7	302	0	0	0	1	0	7	302				
TTN	7273	broad.mit.edu	37	2	179579858	179579858	+	Silent	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:179579858G>A	ENST00000591111.1	-	88	25328	c.25104C>T	c.(25102-25104)agC>agT	p.S8368S	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.S7441S|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.S8685S|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12542	Ig-like 66.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTCTTGCCGCTCCTAAGTT	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(26053-26055)agC>agT		titin							318.0	300.0	306.0					2																	179579858		1923	4120	6043	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579858G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25104C>T	2.37:g.179579858G>A						TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.S7441S|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.S8368S|TTN_ENST00000342175.6_Intron	p.S8685S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		90	26279	-			8368			Ig-like 69.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.26055C>T																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		327	603	0	0	0	1	0	327	603				
KDM6B	23135	broad.mit.edu	37	17	7752472	7752472	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:7752472G>A	ENST00000448097.2	+	11	3197	c.2866G>A	c.(2866-2868)Gca>Aca	p.A956T	KDM6B_ENST00000254846.5_Missense_Mutation_p.A956T			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	956					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCTGCCCCCCGCACAGGCCAA	0.692																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(2866-2868)Gca>Aca		lysine (K)-specific demethylase 6B							10.0	12.0	11.0					17																	7752472		2145	4204	6349	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752472G>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2866G>A	17.37:g.7752472G>A	ENSP00000412513:p.Ala956Thr					KDM6B_ENST00000448097.2_Missense_Mutation_p.A956T	p.A956T	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	3255	+			956					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.2866G>A		.	.	.	.	.	.	.	.	.	.	G	7.985	0.752026	0.15778	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.34072	1.38;1.39	4.39	-1.75	0.08031	.	1.071470	0.07336	N	0.879937	T	0.14013	0.0339	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.26467	-1.0102	10	0.05833	T	0.94	0.0123	0.7837	0.01045	0.2956:0.1624:0.3758:0.1662	.	956;956	O15054;O15054-1	KDM6B_HUMAN;.	T	956	ENSP00000254846:A956T;ENSP00000412513:A956T	ENSP00000254846:A956T	A	+	1	0	KDM6B	7693197	0.000000	0.05858	0.000000	0.03702	0.857000	0.48899	-0.879000	0.04188	-0.031000	0.13781	-0.448000	0.05591	GCA		0.692	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		4	76	0	0	0	1	0	4	76				
GGT3P	2679	broad.mit.edu	37	22	18778584	18778584	+	RNA	SNP	A	A	G	rs3984302	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:18778584A>G	ENST00000412448.1	-	0	821							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										CCCAATCTCCAAGCACTGCTT	0.607													a|||	1595	0.31849	0.3442	0.366	5008	,	,		44020	0.2183		0.3738	False		,,,				2504	0.2965					ENST00000412448.1																			0																																																			0							g.chr22:18778584A>G			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778584A>G														0	821	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.607	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		8	93	0	0	0	1	0	8	93				
XDH	7498	broad.mit.edu	37	2	31625970	31625970	+	Silent	SNP	G	G	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:31625970G>T	ENST00000379416.3	-	3	189	c.141C>A	c.(139-141)ggC>ggA	p.G47G		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	47	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	AAGCCCCGCAGCCCCCCTCTC	0.577																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(139-141)ggC>ggA		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						96.0	92.0	93.0					2																	31625970		2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31625970G>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.141C>A	2.37:g.31625970G>T							p.G47G	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			3	189	-	Acute lymphoblastic leukemia(172;0.155)		47			2Fe-2S ferredoxin-type.		Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.141C>A	CCDS1775.1																																																																																				0.577	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		50	400	1	0	9.55421e-19	1	1.08536e-18	50	400				
ROBO1	6091	broad.mit.edu	37	3	78734918	78734918	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:78734918C>A	ENST00000464233.1	-	10	1433	c.1320G>T	c.(1318-1320)aaG>aaT	p.K440N	ROBO1_ENST00000436010.2_Missense_Mutation_p.K401N|ROBO1_ENST00000495273.1_Missense_Mutation_p.K404N|ROBO1_ENST00000467549.1_Missense_Mutation_p.K404N	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	440	Ig-like C2-type 4.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCAAATATGCCTTTGTGATGA	0.383																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(1201-1203)aaG>aaT		roundabout, axon guidance receptor, homolog 1 (Drosophila)							57.0	55.0	56.0					3																	78734918		1885	4095	5980	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78734918C>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.1320G>T	3.37:g.78734918C>A	ENSP00000420321:p.Lys440Asn					ROBO1_ENST00000467549.1_Missense_Mutation_p.K404N|ROBO1_ENST00000464233.1_Missense_Mutation_p.K440N|ROBO1_ENST00000495273.1_Missense_Mutation_p.K404N	p.K401N			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	8	2200	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	440			Ig-like C2-type 4.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.1203G>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730545	0.48939	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.28	-2.11	0.07187	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.088124	0.85682	D	0.000000	T	0.66915	0.2838	L	0.31845	0.965	0.50313	D	0.999865	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.999;1.0;1.0	T	0.61525	-0.7045	9	.	.	.	.	10.4211	0.44350	0.0:0.3686:0.0:0.6314	.	404;440;404;404;401	Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	N	401;404;440;404;404;440	ENSP00000406043:K401N;ENSP00000420321:K440N;ENSP00000420637:K404N;ENSP00000417992:K404N	.	K	-	3	2	ROBO1	78817608	1.000000	0.71417	0.985000	0.45067	0.460000	0.32559	0.961000	0.29267	-0.550000	0.06183	-0.251000	0.11542	AAG		0.383	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		24	60	1	0	1.74197e-06	1	1.84597e-06	24	60				
KRTAP4-9	100132386	broad.mit.edu	37	17	39262103	39262103	+	Missense_Mutation	SNP	A	A	T	rs374629799	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:39262103A>T	ENST00000391415.1	+	1	520	c.463A>T	c.(463-465)Agc>Tgc	p.S155C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	155	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ccccagctgcagcatctccag	0.672													a|||	152	0.0303514	0.0893	0.0216	5008	,	,		18051	0.001		0.0139	False		,,,				2504	0.0041					ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(463-465)Agc>Tgc		keratin associated protein 4-9							6.0	9.0	8.0					17																	39262103		679	1572	2251	SO:0001583	missense	100132386					keratin filament		g.chr17:39262103A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.463A>T	17.37:g.39262103A>T	ENSP00000375234:p.Ser155Cys						p.S155C	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	520	+			155			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.463A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	0.091	-1.167638	0.01660	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.00584	6.4	3.1	-1.38	0.09027	.	.	.	.	.	T	0.00109	0.0003	N	0.00041	-2.485	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48186	-0.9057	9	0.02654	T	1	.	0.2915	0.00259	0.1968:0.2502:0.1975:0.3554	.	155	Q9BYQ8	KRA49_HUMAN	C	143;155;146	ENSP00000375234:S155C	ENSP00000334461:S146C	S	+	1	0	KRTAP4-9	36515629	0.946000	0.32159	0.002000	0.10522	0.205000	0.24178	1.056000	0.30480	-0.110000	0.12022	-1.044000	0.02363	AGC		0.672	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		10	106	0	0	0	1	0	10	106				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			9	236	0	0	0	1	0	9	236				
C14orf39	317761	broad.mit.edu	37	14	60945081	60945081	+	Missense_Mutation	SNP	C	C	T	rs549495863		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr14:60945081C>T	ENST00000321731.3	-	5	419	c.260G>A	c.(259-261)cGt>cAt	p.R87H		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	87					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTCATGTTTACGAAAAACATC	0.264													C|||	1	0.000199681	0.0	0.0	5008	,	,		15432	0.0		0.0	False		,,,				2504	0.001					ENST00000321731.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(259-261)cGt>cAt		chromosome 14 open reading frame 39							69.0	67.0	68.0					14																	60945081		2201	4297	6498	SO:0001583	missense	317761							g.chr14:60945081C>T	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.260G>A	14.37:g.60945081C>T	ENSP00000324920:p.Arg87His						p.R87H	NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	5	419	-			87					Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	c.260G>A	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.886518	0.00527	.	.	ENSG00000179008	ENST00000321731;ENST00000555476;ENST00000556799	T;T	0.41400	2.02;1.0	5.56	1.87	0.25490	.	0.424204	0.24945	N	0.034343	T	0.11580	0.0282	N	0.01109	-1.01	0.19575	N	0.999969	B	0.06786	0.001	B	0.01281	0.0	T	0.36720	-0.9736	10	0.02654	T	1	-3.7283	8.5196	0.33268	0.0:0.2298:0.0:0.7702	.	87	Q8N1H7	S6OS1_HUMAN	H	87;58;87	ENSP00000324920:R87H;ENSP00000451665:R58H	ENSP00000324920:R87H	R	-	2	0	C14orf39	60014834	0.995000	0.38212	0.999000	0.59377	0.003000	0.03518	0.079000	0.14782	0.142000	0.18901	-1.969000	0.00466	CGT		0.264	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		41	159	0	0	0	1	0	41	159				
AADACL3	126767	broad.mit.edu	37	1	12785494	12785494	+	Frame_Shift_Del	DEL	G	G	-	rs7513079	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:12785494delG	ENST00000359318.5	+	4	789	c.584delG	c.(583-585)tgtfs	p.C195fs	AADACL3_ENST00000332530.3_Frame_Shift_Del_p.C125fs	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	195			C -> F (in dbSNP:rs7513079). {ECO:0000269|PubMed:14702039}.				hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTGCTACTGTTTTTTTCAA	0.458																																						ENST00000332530.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(373-375)ttfs		arylacetamide deacetylase-like 3							148.0	137.0	140.0					1																	12785494		1854	4094	5948	SO:0001589	frameshift_variant	126767						hydrolase activity	g.chr1:12785494delG		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.584delG	1.37:g.12785494delG	ENSP00000352268:p.Cys195fs					AADACL3_ENST00000359318.5_Frame_Shift_Del_p.C195fs	p.C125fs	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	600	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	195					B3KXR9|Q5VUY1	Frame_Shift_Del	DEL	ENST00000359318.5	37	c.374delG	CCDS41253.1																																																																																				0.458	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		8	1299						8	1299	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs	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					PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	p.P344fs	NM_001048183.1	NP_001041648.1	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		10	1156						10	1156	---	---	---	---
SNIP1	79753	broad.mit.edu	37	1	38003368	38003370	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:38003368_38003370delTCC	ENST00000296215.6	-	4	1242_1244	c.1170_1172delGGA	c.(1168-1173)gaggaa>gaa	p.390_391EE>E	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	390	Poly-Glu.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				AGACACTTCTTCCTCCTCCTCCT	0.448																																						ENST00000296215.6																			0				breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(1168-1173)gaa>ga		Smad nuclear interacting protein 1																																				SO:0001651	inframe_deletion	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38003368_38003370delTCC		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.1170_1172delGGA	1.37:g.38003377_38003379delTCC	ENSP00000296215:p.Glu392del						p.EE390del	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN			4	1242_1244	-		Myeloproliferative disorder(586;0.0393)	390			Poly-Glu.		Q96SP9|Q9H9T7	In_Frame_Del	DEL	ENST00000296215.6	37	c.1170_1172delGGA	CCDS419.1																																																																																				0.448	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		8	783						8	783	---	---	---	---
ZCCHC11	23318	broad.mit.edu	37	1	52991403	52991403	+	Frame_Shift_Del	DEL	T	T	-	rs180741095		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:52991403delT	ENST00000371544.3	-	2	812	c.550delA	c.(550-552)attfs	p.I184fs	ZCCHC11_ENST00000355809.4_Frame_Shift_Del_p.I184fs|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.I184fs|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	184					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GAGCTTGGAATTTTTTTTCCA	0.408																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(550-552)ttfs		zinc finger, CCHC domain containing 11							164.0	171.0	169.0					1																	52991403		2203	4300	6503	SO:0001589	frameshift_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52991403delT	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.550delA	1.37:g.52991403delT	ENSP00000360599:p.Ile184fs					ZCCHC11_ENST00000355809.4_Frame_Shift_Del_p.I184fs|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.I184fs|ZCCHC11_ENST00000371541.1_5'UTR	p.I184fs	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			2	812	-			184					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Frame_Shift_Del	DEL	ENST00000371544.3	37	c.550delA	CCDS30716.1																																																																																				0.408	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		8	1325						8	1325	---	---	---	---
LRRC53	100144878	broad.mit.edu	37	1	74957824	74957826	+	Intron	DEL	CTT	CTT	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:74957824_74957826delCTT	ENST00000294635.4	-	2	89				FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.S860del|TNNI3K_ENST00000370891.2_In_Frame_Del_p.S847del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.S746del			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTCTCTCACCTTCTTCTTCTTC	0.473																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2527-2532)cct>c		TNNI3 interacting kinase			,	16,4250		8,0,2125					,	5.6	1.0			204	28,8226		13,2,4112	no	coding,coding	TNNI3K,FPGT-TNNI3K	NM_015978.2,NM_001112808.2	,	21,2,6237	A1A1,A1R,RR		0.3392,0.3751,0.3514	,	,		44,12476				SO:0001627	intron_variant	51086							g.chr1:74957824_74957826delCTT			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8765AAG>-	1.37:g.74957833_74957835delCTT						LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del	p.PS843del	NM_001112808.2	NP_001106279.1					25	2544_2546	+									In_Frame_Del	DEL	ENST00000294635.4	37	c.2528_2530delCTT																																																																																					0.473	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			12	1155						12	1155	---	---	---	---
LPAR3	23566	broad.mit.edu	37	1	85331664	85331665	+	Frame_Shift_Ins	INS	-	-	A	rs76299065		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:85331664_85331665insA	ENST00000440886.1	-	1	177_178	c.139_140insT	c.(139-141)tctfs	p.S47fs	LPAR3_ENST00000370611.3_Frame_Shift_Ins_p.S47fs|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	47					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAGAGAATTAGAAAAAAAAATA	0.401																																						ENST00000440886.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(139-141)taafs		lysophosphatidic acid receptor 3																																				SO:0001589	frameshift_variant	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331664_85331665insA	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.140dupT	1.37:g.85331673_85331673dupA	ENSP00000395389:p.Ser47fs					LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Frame_Shift_Ins_p.*47fs	p.*47fs			Q9UBY5	LPAR3_HUMAN			1	177_178	-			47					A0AVA3	Frame_Shift_Ins	INS	ENST00000440886.1	37	c.139_140insT	CCDS700.1																																																																																				0.401	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		13	792						13	792	---	---	---	---
CCDC18	343099	broad.mit.edu	37	1	93667516	93667516	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:93667516delA	ENST00000343253.7	+	7	1268	c.766delA	c.(766-768)aaafs	p.K258fs	CCDC18_ENST00000338949.4_Frame_Shift_Del_p.K57fs|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Frame_Shift_Del_p.K258fs|CCDC18_ENST00000557479.1_Frame_Shift_Del_p.K376fs			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	258								p.V377fs*15(1)		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)		CCAACAATATAAAAAAAAAGT	0.318																																						ENST00000343253.7																			1	Deletion - Frameshift(1)	p.V377fs*15(1)	ovary(1)	breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(766-768)aafs		coiled-coil domain containing 18							41.0	42.0	42.0					1																	93667516		1802	4067	5869	SO:0001589	frameshift_variant	343099							g.chr1:93667516delA			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.766delA	1.37:g.93667516delA	ENSP00000343377:p.Lys258fs					CCDC18_ENST00000338949.4_Frame_Shift_Del_p.K57fs|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Frame_Shift_Del_p.K258fs|CCDC18_ENST00000557479.1_Frame_Shift_Del_p.K376fs	p.K258fs			Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	7	1268	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	258					Q6ZU17	Frame_Shift_Del	DEL	ENST00000343253.7	37	c.766delA																																																																																					0.318	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		8	245						8	245	---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114968116	114968118	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:114968116_114968118delTGT	ENST00000358465.2	-	9	1731_1733	c.1648_1650delACA	c.(1648-1650)acadel	p.T550del	TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	550	Poly-Thr.				gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		GATGCTGTTGTGTTGTTGTTGTT	0.429			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1648-1650)del		tripartite motif containing 33																																				SO:0001651	inframe_deletion	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968116_114968118delTGT	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1648_1650delACA	1.37:g.114968125_114968127delTGT	ENSP00000351250:p.Thr550del					TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del	p.T550del	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_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)	9	1731_1733	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	550			Poly-Thr.		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	In_Frame_Del	DEL	ENST00000358465.2	37	c.1648_1650delACA	CCDS872.1																																																																																				0.429	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		8	1396						8	1396	---	---	---	---
RP11-782C8.2	0	broad.mit.edu	37	1	143210446	143210446	+	lincRNA	DEL	T	T	-	rs530198275|rs376698056	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:143210446delT	ENST00000412204.2	-	0	624				RP11-782C8.1_ENST00000438000.1_lincRNA																							GTCCATATACTAAAAAGGTTA	0.284																																						ENST00000412204.2																			0																																																			0							g.chr1:143210446delT																													1.37:g.143210446delT						RP11-782C8.1_ENST00000438000.1_lincRNA								0	624	-									RNA	DEL	ENST00000412204.2	37																																																																																						0.284	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			11	121						11	121	---	---	---	---
RP11-782C8.1	0	broad.mit.edu	37	1	143217265	143217266	+	lincRNA	INS	-	-	A	rs200536781		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:143217265_143217266insA	ENST00000438000.1	+	0	59																											GTTAGTAAAGCAAAAAAAAAAC	0.282																																						ENST00000438000.1																			0																																																			0							g.chr1:143217265_143217266insA																													1.37:g.143217275_143217275dupA														0	59	+									RNA	INS	ENST00000438000.1	37																																																																																						0.282	RP11-782C8.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037560.1			7	56						7	56	---	---	---	---
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:145415369_145415371delGAG	ENST00000336751.5	+	3	426_428	c.188_190delGAG	c.(187-192)cgagga>cga	p.G69del	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	69	Poly-Gly.			G -> GG (in Ref. 3; ABC40718). {ECO:0000305}.	axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCACTTCGAGGAGGAGGAGG	0.626																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(187-192)cga>c		hemochromatosis type 2 (juvenile)			,,,	49,31,4178		2,0,45,10,11,2061					,,,	2.7	0.0			51	5,73,8160		0,0,5,23,27,4064	no	codingComplex,intron,intron,utr-5	HFE2	NM_213653.3,NM_213652.3,NM_202004.3,NM_145277.4	,,,	2,0,50,33,38,6125	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9468,1.8788,1.2644	,,,	,,,		54,104,12338				SO:0001651	inframe_deletion	148738				axon guidance	anchored to membrane		g.chr1:145415369_145415371delGAG	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.188_190delGAG	1.37:g.145415378_145415380delGAG	ENSP00000337014:p.Gly69del					HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000475797.1_Intron	p.RG63del	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			3	426_428	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		63					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	In_Frame_Del	DEL	ENST00000336751.5	37	c.188_190delGAG	CCDS910.1																																																																																				0.626	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		11	386						11	386	---	---	---	---
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	TCT	-	rs587765256		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:145457040_145457042delTCT	ENST00000369314.1	-	7	625_627	c.519_521delAGA	c.(517-522)gaagag>gag	p.173_174EE>E	POLR3GL_ENST00000369313.3_In_Frame_Del_p.150_151EE>E	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	173	Glu-rich.				gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448																																						ENST00000369314.1																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(517-522)gag>ga		polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like																																				SO:0001651	inframe_deletion	84265							g.chr1:145457040_145457042delTCT	BC004355	CCDS72875.1	1q21.1	2008-02-05	2006-12-14		ENSG00000121851	ENSG00000121851			28466	protein-coding gene	gene with protein product			"""polymerase (RNA) III (DNA directed) polypeptide G (32kD) like"""			12477932	Standard	NM_032305		Approved	flj32422, MGC3200	uc001enp.1	Q9BT43	OTTHUMG00000013739	ENST00000369314.1:c.519_521delAGA	1.37:g.145457049_145457051delTCT	ENSP00000358320:p.Glu174del					POLR3GL_ENST00000369313.3_In_Frame_Del_p.EE150del	p.EE173del	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN			7	625_627	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		173			Glu-rich.		B1MVG5	In_Frame_Del	DEL	ENST00000369314.1	37	c.519_521delAGA	CCDS914.1																																																																																				0.448	POLR3GL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038510.1	NM_032305		7	189						7	189	---	---	---	---
POU2F1	5451	broad.mit.edu	37	1	167385016	167385018	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:167385016_167385018delCCA	ENST00000541643.3	+	17	2363_2365	c.2201_2203delCCA	c.(2200-2205)tccacc>tcc	p.T738del	POU2F1_ENST00000367866.2_In_Frame_Del_p.T761del|POU2F1_ENST00000429375.2_In_Frame_Del_p.T698del|POU2F1_ENST00000367862.5_In_Frame_Del_p.T750del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Intron			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	738					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGGGCTGCGTCCACCACCACCAC	0.601																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(2236-2241)tcc>t		POU class 2 homeobox 1																																				SO:0001651	inframe_deletion	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167385016_167385018delCCA	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.2201_2203delCCA	1.37:g.167385025_167385027delCCA	ENSP00000441285:p.Thr738del					POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000420254.3_Intron	p.ST746del	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			16	2472_2474	+			734					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	In_Frame_Del	DEL	ENST00000541643.3	37	c.2237_2239delCCA																																																																																					0.601	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		10	1041						10	1041	---	---	---	---
SRGAP2	23380	broad.mit.edu	37	1	206574946	206574948	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:206574946_206574948delACA	ENST00000414007.1	+	4	578_580	c.578_580delACA	c.(577-582)tacaac>tac	p.N195del	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	335	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ATGGAGATGTACAACAACGTCTT	0.532																																						ENST00000414007.1																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(577-582)tac>t		SLIT-ROBO Rho GTPase activating protein 2			,,	44,2594		0,44,1275					,,	6.0	1.0			14	2,5712		0,2,2855	no	coding,coding,coding	SRGAP2	NM_015326.2,NM_001170637.1,NM_001042758.1	,,	0,46,4130	A1A1,A1R,RR		0.035,1.6679,0.5508	,,	,,		46,8306				SO:0001651	inframe_deletion	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206574946_206574948delACA	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.578_580delACA	1.37:g.206574949_206574951delACA	ENSP00000390898:p.Asn195del					SRGAP2_ENST00000419187.2_5'UTR	p.YN193del			O75044	FNBP2_HUMAN			4	578_580	+	Breast(84;0.137)		333						In_Frame_Del	DEL	ENST00000414007.1	37	c.578_580delACA																																																																																					0.532	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		8	122						8	122	---	---	---	---
TRIM17	51127	broad.mit.edu	37	1	228596935	228596935	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:228596935delG	ENST00000366697.2	-	5	1777	c.821delC	c.(820-822)ccafs	p.P274fs	RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000366698.2_Frame_Shift_Del_p.P274fs|TRIM17_ENST00000295033.3_Frame_Shift_Del_p.P274fs|TRIM11_ENST00000366699.3_5'Flank|TRIM17_ENST00000456946.2_Frame_Shift_Del_p.P274fs			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)				GGGTCTGGTTGGGGGGGCAAC	0.582																																						ENST00000366697.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(820-822)cafs		tripartite motif containing 17							113.0	115.0	115.0					1																	228596935		2203	4300	6503	SO:0001589	frameshift_variant	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228596935delG	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.821delC	1.37:g.228596935delG	ENSP00000355658:p.Pro274fs					RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000295033.3_Frame_Shift_Del_p.P274fs|TRIM17_ENST00000456946.2_Frame_Shift_Del_p.P274fs|TRIM17_ENST00000366698.2_Frame_Shift_Del_p.P274fs	p.P274fs			Q9Y577	TRI17_HUMAN			5	1777	-		Prostate(94;0.0724)	274					B4DVJ2|Q5VST8	Frame_Shift_Del	DEL	ENST00000366697.2	37	c.821delC	CCDS1571.1																																																																																				0.582	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		8	762						8	762	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248437112	248437112	+	Frame_Shift_Del	DEL	T	T	-	rs372045862		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:248437112delT	ENST00000318021.2	-	1	26	c.5delA	c.(4-6)gagfs	p.E2fs		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	2						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(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTTCTCATCTCCATAATTTC	0.428																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(4-6)ggfs		olfactory receptor, family 2, subfamily T, member 33							45.0	47.0	46.0					1																	248437112		2145	4249	6394	SO:0001589	frameshift_variant	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248437112delT		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.5delA	1.37:g.248437112delT	ENSP00000324687:p.Glu2fs						p.E2fs	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	26	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		2					B2RNN0	Frame_Shift_Del	DEL	ENST00000318021.2	37	c.5delA	CCDS31109.1																																																																																				0.428	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		7	607						7	607	---	---	---	---
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:10917819_10917820delAG	ENST00000272238.4	+	11	1043_1044	c.934_935delAG	c.(934-936)agafs	p.R312fs	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	312					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000272238.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(934-936)afs		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2																																				SO:0001589	frameshift_variant	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10917819_10917820delAG	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.934_935delAG	2.37:g.10917829_10917830delAG	ENSP00000272238:p.Arg312fs					ATP6V1C2_ENST00000381661.3_Intron	p.R312fs	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	11	1043_1044	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		312					Q96EL8	Frame_Shift_Del	DEL	ENST00000272238.4	37	c.934_935delAG	CCDS42653.1																																																																																				0.604	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		11	564						11	564	---	---	---	---
FOXN2	3344	broad.mit.edu	37	2	48573666	48573667	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:48573666_48573667insA	ENST00000340553.3	+	3	574_575	c.313_314insA	c.(313-315)gaafs	p.E105fs		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	105					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CCAGAACCCAGAAAAAAAATCA	0.431																																						ENST00000340553.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(313-315)aaafs		forkhead box N2																																				SO:0001589	frameshift_variant	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48573666_48573667insA		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.321dupA	2.37:g.48573674_48573674dupA	ENSP00000343633:p.Glu105fs						p.K105fs	NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		3	574_575	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	105					Q15769|Q6P4Q2	Frame_Shift_Ins	INS	ENST00000340553.3	37	c.313_314insA	CCDS1838.1																																																																																				0.431	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158		7	833						7	833	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-	rs368798001		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:96992793_96992795delGAG	ENST00000439118.2	+	3	675_677	c.424_426delGAG	c.(424-426)gagdel	p.E147del	ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000361124.4_In_Frame_Del_p.E155del	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(448-450)del		inositol 1,4,5-trisphosphate receptor interacting protein-like 1																																				SO:0001651	inframe_deletion	150771					integral to membrane		g.chr2:96992793_96992795delGAG		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.424_426delGAG	2.37:g.96992802_96992804delGAG	ENSP00000389308:p.Glu147del					ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del	p.E155del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	859_861	+			147					F5H1L8|Q8NE61	In_Frame_Del	DEL	ENST00000439118.2	37	c.448_450delGAG	CCDS46360.1																																																																																				0.532	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		10	428						10	428	---	---	---	---
TMEM40	55287	broad.mit.edu	37	3	12790198	12790200	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:12790198_12790200delGAG	ENST00000314124.7	-	3	521_523	c.165_167delCTC	c.(163-168)tcctct>tct	p.55_56SS>S	TMEM40_ENST00000435218.2_In_Frame_Del_p.55_56SS>S|TMEM40_ENST00000431022.2_In_Frame_Del_p.71_72SS>S|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000264728.8_In_Frame_Del_p.55_56SS>S	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	55	Ser-rich.			S -> F (in Ref. 1; BAA91967). {ECO:0000305}.		integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						tgaggaggaagaggaggaggagg	0.419																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(163-168)tct>tc		transmembrane protein 40																																				SO:0001651	inframe_deletion	55287					integral to membrane		g.chr3:12790198_12790200delGAG	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.165_167delCTC	3.37:g.12790207_12790209delGAG	ENSP00000322837:p.Ser70del					TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del	p.SS69del	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			3	521_523	-			69			Ser-rich.		C9JID5|Q8NAL4|Q9NUZ4	In_Frame_Del	DEL	ENST00000314124.7	37	c.165_167delCTC	CCDS2613.1																																																																																				0.419	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		7	932						7	932	---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42680269	42680271	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:42680269_42680271delGAG	ENST00000232978.8	+	13	3261_3263	c.3073_3075delGAG	c.(3073-3075)gagdel	p.E1029del	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1029					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATTTGGTGAAGAGGAGGAGGAGG	0.355																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(3073-3075)del		natural killer-tumor recognition sequence																																				SO:0001651	inframe_deletion	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680269_42680271delGAG		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3073_3075delGAG	3.37:g.42680278_42680280delGAG	ENSP00000232978:p.Glu1029del					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	p.E1029del	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3261_3263	+			1029						In_Frame_Del	DEL	ENST00000232978.8	37	c.3073_3075delGAG	CCDS2702.1																																																																																				0.355	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		7	504						7	504	---	---	---	---
ARIH2	10425	broad.mit.edu	37	3	48965064	48965066	+	In_Frame_Del	DEL	GAA	GAA	-	rs367899872		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:48965064_48965066delGAA	ENST00000356401.4	+	3	412_414	c.73_75delGAA	c.(73-75)gaadel	p.E29del	ARIH2_ENST00000490095.1_Intron|ARIH2_ENST00000449376.1_In_Frame_Del_p.E29del	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	29	Asp/Glu-rich (acidic).|Poly-Glu.		E -> D (in dbSNP:rs34221642).		developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E25E(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		Tgaggaagaggaagaagaagaag	0.517																																						ENST00000356401.4																			1	Substitution - coding silent(1)	p.E25E(1)	large_intestine(1)	cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(73-75)del		ariadne RBR E3 ubiquitin protein ligase 2																																				SO:0001651	inframe_deletion	10425				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:48965064_48965066delGAA	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.73_75delGAA	3.37:g.48965073_48965075delGAA	ENSP00000348769:p.Glu29del					ARIH2_ENST00000449376.1_In_Frame_Del_p.E29del|ARIH2_ENST00000490095.1_Intron	p.E29del	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	3	412_414	+			29		E -> D (in dbSNP:rs34221642).	Asp/Glu-rich (acidic).|Poly-Glu.		Q9HBZ6|Q9UEM9	In_Frame_Del	DEL	ENST00000356401.4	37	c.73_75delGAA	CCDS2780.1																																																																																				0.517	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321		11	143						11	143	---	---	---	---
QRICH1	54870	broad.mit.edu	37	3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000357496.2_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1315-1320)caa>ca		glutamine-rich 1																																				SO:0001651	inframe_deletion	54870							g.chr3:49094314_49094316delTGC		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1317_1319delGCA	3.37:g.49094323_49094325delTGC	ENSP00000378830:p.Gln440del					QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del	p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1789_1791	-			439			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	ENST00000395443.2	37	c.1317_1319delGCA	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		7	376						7	376	---	---	---	---
APEH	327	broad.mit.edu	37	3	49723112	49723112	+	IGR	DEL	T	T	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:49723112delT	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Frame_Shift_Del_p.N435fs	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1303-1305)acfs		macrophage stimulating 1 (hepatocyte growth factor-like)							43.0	42.0	43.0					3																	49723112		2203	4300	6503	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723112delT	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723112delT						MST1_ENST00000383728.3_3'UTR	p.N435fs	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1665	-			421			Kringle 4.		Q9BQ33|Q9P0Y2	Frame_Shift_Del	DEL	ENST00000296456.5	37	c.1304delA	CCDS2801.1																																																																																				0.587	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			11	273						11	273	---	---	---	---
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	927	Poly-His.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2779-2784)cat>ca		ELKS/RAB6-interacting/CAST family member 2																																				SO:0001651	inframe_deletion	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55733470_55733472delTGG	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2781_2783delCCA	3.37:g.55733479_55733481delTGG	ENSP00000288221:p.His932del						p.HH931del	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	16	3036_3038	-			931			Poly-His.		Q2T9F6|Q86TK4	In_Frame_Del	DEL	ENST00000288221.6	37	c.2781_2783delCCA	CCDS46851.1																																																																																				0.502	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		9	1001						9	1001	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	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					LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	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			14	1620						14	1620	---	---	---	---
TRMT10C	54931	broad.mit.edu	37	3	101284009	101284009	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:101284009delA	ENST00000309922.6	+	2	538	c.384delA	c.(382-384)gcafs	p.A128fs		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	128					mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										CTAACACAGCaaaaaaaaaat	0.343																																						ENST00000309922.6																			0											c.(382-384)gcfs		tRNA methyltransferase 10 homolog C (S. cerevisiae)				86,83,3215		3,0,80,1,81,1527	28.0	25.0	26.0			5.9	0.8	3		29	198,238,7170		8,1,181,6,225,3382	no	codingComplex	RG9MTD1	NM_017819.2		11,1,261,7,306,4909	A1A1,A1A2,A1R,A2A2,A2R,RR		5.7323,4.9941,5.505			101284009	284,321,10385	1781	4033	5814	SO:0001589	frameshift_variant	54931							g.chr3:101284009delA	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.384delA	3.37:g.101284009delA	ENSP00000312356:p.Ala128fs						p.A128fs	NM_017819.2	NP_060289.2					2	538	+								Q9NRG5|Q9NX54|Q9Y596	Frame_Shift_Del	DEL	ENST00000309922.6	37	c.384delA	CCDS43122.1																																																																																				0.343	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		20	348						20	348	---	---	---	---
KIAA1407	57577	broad.mit.edu	37	3	113737707	113737707	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:113737707delT	ENST00000295878.3	-	8	1127	c.981delA	c.(979-981)aaafs	p.K327fs	KIAA1407_ENST00000545063.1_Frame_Shift_Del_p.K158fs	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	327										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CGAAATACCGTTTTTGACACT	0.478																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(979-981)aafs		KIAA1407							169.0	171.0	170.0					3																	113737707		2203	4300	6503	SO:0001589	frameshift_variant	57577							g.chr3:113737707delT	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.981delA	3.37:g.113737707delT	ENSP00000295878:p.Lys327fs					KIAA1407_ENST00000545063.1_Frame_Shift_Del_p.K158fs	p.K327fs	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			8	1127	-			327					B4DYL1|Q9P2E0	Frame_Shift_Del	DEL	ENST00000295878.3	37	c.981delA	CCDS2977.1																																																																																				0.478	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		7	1648						7	1648	---	---	---	---
IQCB1	9657	broad.mit.edu	37	3	121515999	121515999	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:121515999delA	ENST00000310864.6	-	9	1056	c.842delT	c.(841-843)ttafs	p.L281fs	IQCB1_ENST00000349820.6_Intron	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	281					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		CATTGGGCTTAAAAGGCCAAC	0.358																																						ENST00000310864.6																			0				NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30						c.(841-843)tafs		IQ motif containing B1							104.0	105.0	104.0					3																	121515999		2203	4300	6503	SO:0001589	frameshift_variant	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121515999delA	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.842delT	3.37:g.121515999delA	ENSP00000311505:p.Leu281fs					IQCB1_ENST00000349820.6_Intron	p.L281fs	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	9	1056	-			281					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Frame_Shift_Del	DEL	ENST00000310864.6	37	c.842delT	CCDS33837.1																																																																																				0.358	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		8	743						8	743	---	---	---	---
UROC1	131669	broad.mit.edu	37	3	126220106	126220106	+	Frame_Shift_Del	DEL	T	T	-	rs569784894		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:126220106delT	ENST00000290868.2	-	10	973	c.920delA	c.(919-921)aagfs	p.K307fs	UROC1_ENST00000383579.3_Frame_Shift_Del_p.K367fs	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	307					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GAGCACCTCCTTTTTTTTCCT	0.587																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(919-921)agfs		urocanate hydratase 1							209.0	200.0	203.0					3																	126220106		2203	4300	6503	SO:0001589	frameshift_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126220106delT	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.920delA	3.37:g.126220106delT	ENSP00000290868:p.Lys307fs					UROC1_ENST00000383579.3_Frame_Shift_Del_p.K367fs	p.K307fs	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	10	973	-			307					E9PE13|Q14C64|Q68CJ7	Frame_Shift_Del	DEL	ENST00000290868.2	37	c.920delA	CCDS3038.1																																																																																				0.587	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		10	1448						10	1448	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)cagdel	p.Q570del	TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1708-1710)del		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129370576_129370578delCTG	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1708_1710delCAG	3.37:g.129370585_129370587delCTG	ENSP00000376930:p.Gln570del					TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del	p.Q570del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2048_2050	-			570					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.1708_1710delCAG	CCDS33855.1																																																																																				0.581	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		13	498						13	498	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gctgca>gca	p.180_181AA>A	TMCC1_ENST00000426664.2_In_Frame_Del_p.66_67AA>A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(538-543)gca>gc		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129546680_129546682delGCA	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.540_542delTGC	3.37:g.129546689_129546691delGCA	ENSP00000376930:p.Ala181del					TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	p.AA180del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			3	880_882	-			180					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.540_542delTGC	CCDS33855.1																																																																																				0.483	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		7	351						7	351	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-	rs147600909		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q2111E(1)		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)			GCAGCAGACCCAGCAGCAGCAGC	0.527																																						ENST00000474524.1																			1	Substitution - Missense(1)	p.Q2111E(1)	lung(1)	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.(6331-6333)del		mediator complex subunit 12-like																																				SO:0001651	inframe_deletion	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151148114_151148116delCAG	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.6331_6333delCAG	3.37:g.151148123_151148125delCAG	ENSP00000417235:p.Gln2115del					MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	p.Q2115del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		42	6369_6371	+			2115			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	In_Frame_Del	DEL	ENST00000474524.1	37	c.6331_6333delCAG	CCDS33876.1																																																																																				0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	553						7	553	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)accatc>atc	p.T23del	PHC3_ENST00000467570.1_In_Frame_Del_p.T35del|PHC3_ENST00000495893.2_In_Frame_Del_p.T35del|PHC3_ENST00000474275.1_In_Frame_Del_p.T23del|PHC3_ENST00000497658.1_In_Frame_Del_p.T35del|PHC3_ENST00000481639.1_In_Frame_Del_p.T35del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				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)			GAAgtggtgatggtggtggtggt	0.493																																						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.(67-72)atc>a		polyhomeotic homolog 3 (Drosophila)				6,3998		2,2,1998						3.6	1.0			276	21,8059		10,1,4029	no	coding	PHC3	NM_024947.3		12,3,6027	A1A1,A1R,RR		0.2599,0.1499,0.2234				27,12057				SO:0001651	inframe_deletion	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169896635_169896637delTGG		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.68_70delCCA	3.37:g.169896644_169896646delTGG	ENSP00000420271:p.Thr23del					PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del	p.TI23del			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		2	136_138	-	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)		23			Poly-Thr.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	In_Frame_Del	DEL	ENST00000494943.1	37	c.68_70delCCA																																																																																					0.493	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		8	1515						8	1515	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183665257	183665257	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:183665257delA	ENST00000334444.6	-	23	3509	c.3269delT	c.(3268-3270)ttgfs	p.L1090fs	ABCC5_ENST00000265586.6_Frame_Shift_Del_p.L1047fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1090	ABC transmembrane type-1 2. {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)	ACACGTAAACAAAAAAAAAGG	0.532																																						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.(3268-3270)tgfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							49.0	58.0	55.0					3																	183665257		1969	4159	6128	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.chr3:183665257delA	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.3269delT	3.37:g.183665257delA	ENSP00000333926:p.Leu1090fs					ABCC5_ENST00000265586.6_Frame_Shift_Del_p.L1047fs	p.L1090fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		23	3509	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1090			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Frame_Shift_Del	DEL	ENST00000334444.6	37	c.3269delT	CCDS43176.1																																																																																				0.532	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		7	192						7	192	---	---	---	---
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815895	+	lincRNA	DEL	A	A	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:19815895delA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaa	0.413																																						ENST00000511431.1																			0																																																			0							g.chr4:19815895delA																													4.37:g.19815895delA														0	288	+									RNA	DEL	ENST00000511431.1	37																																																																																						0.413	RP11-608O21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359397.1			7	37						7	37	---	---	---	---
LIMCH1	22998	broad.mit.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:41648508_41648509delGA	ENST00000313860.7	+	12	1317_1318	c.1263_1264delGA	c.(1261-1266)cggagafs	p.RR421fs	LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	421					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465																																						ENST00000313860.7																			2	Deletion - Frameshift(2)	p.E810fs*3(1)|p.E425fs*3(1)	ovary(2)	central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(1261-1266)cggafs		LIM and calponin homology domains 1																																				SO:0001589	frameshift_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41648508_41648509delGA	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1263_1264delGA	4.37:g.41648518_41648519delGA	ENSP00000316891:p.Arg421fs					LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs	p.RR421fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			12	1317_1318	+			421					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Frame_Shift_Del	DEL	ENST00000313860.7	37	c.1263_1264delGA	CCDS33977.1																																																																																				0.465	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		20	637						20	637	---	---	---	---
PRDM8	56978	broad.mit.edu	37	4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:81123250_81123252delCAG	ENST00000504452.1	+	8	1473_1475	c.634_636delCAG	c.(634-636)cagdel	p.Q217del	PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del|PRDM8_ENST00000339711.4_In_Frame_Del_p.Q217del			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(634-636)del		PR domain containing 8			,	0,83,3743		0,0,0,8,67,1838					,	-0.4	0.0			26	6,139,7809		0,0,6,5,129,3837	no	codingComplex,codingComplex	PRDM8	NM_020226.3,NM_001099403.1	,	0,0,6,13,196,5675	A1A1,A1A2,A1R,A2A2,A2R,RR		1.823,2.1694,1.9355	,	,		6,222,11552				SO:0001651	inframe_deletion	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123250_81123252delCAG	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.634_636delCAG	4.37:g.81123259_81123261delCAG	ENSP00000423985:p.Gln217del		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del	p.Q217del	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1865_1867	+			217			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	In_Frame_Del	DEL	ENST00000504452.1	37	c.634_636delCAG	CCDS43243.1																																																																																				0.655	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			12	291						12	291	---	---	---	---
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-	rs372401787		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gaggct>gct	p.E158del	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626																																						ENST00000323061.5																			0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(472-477)gct>g		nucleosome assembly protein 1-like 5																																				SO:0001651	inframe_deletion	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618431_89618433delCCT	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.473_475delAGG	4.37:g.89618440_89618442delCCT	ENSP00000320488:p.Glu158del					HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	p.EA158del	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	953_955	-			158			Glu-rich.			In_Frame_Del	DEL	ENST00000323061.5	37	c.473_475delAGG	CCDS3632.1																																																																																				0.626	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		7	617						7	617	---	---	---	---
NAP1L5	266812	broad.mit.edu	37	4	89618484	89618486	+	In_Frame_Del	DEL	TCC	TCC	-	rs201095744|rs147461195	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:89618484_89618486delTCC	ENST00000323061.5	-	1	900_902	c.420_422delGGA	c.(418-423)gaggaa>gaa	p.140_141EE>E	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	140	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		gtactcctcttcctcctcctcct	0.606														5	0.000998403	0.0008	0.0058	5008	,	,		14727	0.0		0.0	False		,,,				2504	0.0					ENST00000323061.5																			0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(418-423)gaa>ga		nucleosome assembly protein 1-like 5																																				SO:0001651	inframe_deletion	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618484_89618486delTCC	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.420_422delGGA	4.37:g.89618493_89618495delTCC	ENSP00000320488:p.Glu143del					HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	p.EE142del	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	900_902	-			142			Glu-rich.			In_Frame_Del	DEL	ENST00000323061.5	37	c.420_422delGGA	CCDS3632.1																																																																																				0.606	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		12	357						12	357	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-	rs372496848		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_ENST00000398940.1_In_Frame_Del_p.Q178del|MAML3_ENST00000327122.5_In_Frame_Del_p.Q494del	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGTGGCGgctgctgctgctg	0.586																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1948-1953)ccg>c		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140810639_140810641delGCT	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1949_1951delAGC	4.37:g.140810648_140810650delGCT	ENSP00000421180:p.Gln650del					MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del|MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del	p.QP650del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2805_2807	-	all_hematologic(180;0.162)		646			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1949_1951delAGC	CCDS54805.1																																																																																				0.586	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			12	341						12	341	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140811064	140811069	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs58015886|rs370122702		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:140811064_140811069delTGCTGC	ENST00000509479.2	-	2	2377_2382	c.1521_1526delGCAGCA	c.(1519-1527)cagcagcaa>caa	p.507_509QQQ>Q	MAML3_ENST00000398940.1_Splice_Site_p.A37del|MAML3_ENST00000327122.5_In_Frame_Del_p.351_353QQQ>Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgct	0.515																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1519-1527)caa>ca		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811064_140811069delTGCTGC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1521_1526delGCAGCA	4.37:g.140811070_140811075delTGCTGC	ENSP00000421180:p.Gln509_Gln510del					MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del|MAML3_ENST00000398940.1_Splice_Site_p.37_splice	p.QQQ507del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2377_2382	-	all_hematologic(180;0.162)		506			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1521_1526delGCAGCA	CCDS54805.1																																																																																				0.515	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			35	453						35	453	---	---	---	---
FHDC1	85462	broad.mit.edu	37	4	153896047	153896048	+	Frame_Shift_Ins	INS	-	-	C	rs551279175	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:153896047_153896048insC	ENST00000511601.1	+	12	1792_1793	c.1604_1605insC	c.(1603-1608)aacaccfs	p.T536fs	FHDC1_ENST00000260008.3_Frame_Shift_Ins_p.T536fs			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	536									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CGGCCCCCGAACACCCGCCGCT	0.663																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1603-1605)aacfs		FH2 domain containing 1																																				SO:0001589	frameshift_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153896047_153896048insC	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1605dupC	4.37:g.153896048_153896048dupC	ENSP00000427567:p.Thr536fs					FHDC1_ENST00000260008.3_Frame_Shift_Ins_p.N535fs	p.N535fs			Q9C0D6	FHDC1_HUMAN			12	1792_1793	+	all_hematologic(180;0.093)		535						Frame_Shift_Ins	INS	ENST00000511601.1	37	c.1604_1605insC	CCDS34081.1																																																																																				0.663	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		9	79						9	79	---	---	---	---
IL7R	3575	broad.mit.edu	37	5	35874637	35874637	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr5:35874637delA	ENST00000303115.3	+	6	922	c.793delA	c.(793-795)aaafs	p.K266fs	IL7R_ENST00000343305.4_Intron|IL7R_ENST00000506850.1_Intron	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	266					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)			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)			TGTGTTATGGAAAAAAAGGTG	0.428			"""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"""		0				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.(793-795)aafs		interleukin 7 receptor							166.0	147.0	154.0					5																	35874637		2203	4300	6503	SO:0001589	frameshift_variant	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35874637delA	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.793delA	5.37:g.35874637delA	ENSP00000306157:p.Lys266fs					IL7R_ENST00000506850.1_Intron|IL7R_ENST00000343305.4_Intron	p.K266fs	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		6	922	+	all_lung(31;0.00015)		266					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Frame_Shift_Del	DEL	ENST00000303115.3	37	c.793delA	CCDS3911.1																																																																																				0.428	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			8	687						8	687	---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80409566	80409568	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr5:80409566_80409568delCCA	ENST00000265080.4	+	15	2364_2366	c.2297_2299delCCA	c.(2296-2301)cccacc>ccc	p.T770del	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	770					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCCAGCAGTCCCACCACCACCAC	0.562																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2296-2301)ccc>c		Ras protein-specific guanine nucleotide-releasing factor 2																																				SO:0001651	inframe_deletion	5924				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 transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80409566_80409568delCCA	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2297_2299delCCA	5.37:g.80409575_80409577delCCA	ENSP00000265080:p.Thr770del					CTD-2193P3.2_ENST00000508993.1_RNA	p.PT766del	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	15	2364_2366	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	766					B9EG89|Q9UK56	In_Frame_Del	DEL	ENST00000265080.4	37	c.2297_2299delCCA	CCDS4052.1																																																																																				0.562	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		7	331						7	331	---	---	---	---
DEK	7913	broad.mit.edu	37	6	18264079	18264081	+	In_Frame_Del	DEL	TCC	TCC	-	rs377513079		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr6:18264079_18264081delTCC	ENST00000397239.3	-	2	585_587	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	DEK_ENST00000244776.7_In_Frame_Del_p.46_47EE>E	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	46	Asp/Glu-rich (highly acidic).				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CCCACCTTTTtcctcctcctcct	0.532			T	NUP214	AML																																	ENST00000397239.3				Dom	yes		6	6p23	7913	T	DEK oncogene (DNA binding)			L	NUP214		AML		0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(136-141)gaa>ga		DEK oncogene			,	77,1,4184		12,0,53,0,1,2065					,	-0.3	1.0			50	90,5,8159		17,0,56,0,5,4049	no	codingComplex,codingComplex	DEK	NM_003472.3,NM_001134709.1	,	29,0,109,0,6,6114	A1A1,A1A2,A1R,A2A2,A2R,RR		1.151,1.8301,1.3822	,	,		167,6,12343				SO:0001651	inframe_deletion	7913				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	g.chr6:18264079_18264081delTCC	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.138_140delGGA	6.37:g.18264088_18264090delTCC	ENSP00000380414:p.Glu47del					DEK_ENST00000244776.7_In_Frame_Del_p.EE46del	p.EE46del	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		2	585_587	-	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	46			Asp/Glu-rich (highly acidic).		B2R6K6|B4DN37|Q5TGV4|Q5TGV5	In_Frame_Del	DEL	ENST00000397239.3	37	c.138_140delGGA	CCDS34344.1																																																																																				0.532	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			7	355						7	355	---	---	---	---
HLA-F-AS1	285830	broad.mit.edu	37	6	29711944	29711944	+	RNA	DEL	T	T	-	rs150826191	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr6:29711944delT	ENST00000458236.1	-	0	349									HLA-F antisense RNA 1																		AAAAAGGGCCTTGTGACACAC	0.512													TT|TT|T|deletion	64	0.0127796	0.0053	0.0331	5008	,	,		19852	0.006		0.0139	False		,,,				2504	0.0143					ENST00000458236.1																			0																																																			0							g.chr6:29711944delT	AK092748		6p22.1	2013-06-03	2012-08-15		ENSG00000214922	ENSG00000214922		"""Long non-coding RNAs"""	26645	non-coding RNA	RNA, long non-coding			"""HLA-F antisense RNA 1 (non-protein coding)"""				Standard	NR_026972		Approved		uc003nnp.2		OTTHUMG00000185970		6.37:g.29711944delT														0	349	-									RNA	DEL	ENST00000458236.1	37																																																																																						0.512	HLA-F-AS1-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000471862.1	NR_026972		7	5						7	5	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34804004	34804006	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr6:34804004_34804006delCAG	ENST00000192788.5	+	8	1083_1085	c.912_914delCAG	c.(910-915)aacagc>aac	p.S308del	UHRF1BP1_ENST00000452449.2_In_Frame_Del_p.S308del	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	308							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						GCAACAGCAACAGCAGCAGCAGC	0.552																																						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.(910-915)aac>aa		UHRF1 binding protein 1																																				SO:0001651	inframe_deletion	54887							g.chr6:34804004_34804006delCAG	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.912_914delCAG	6.37:g.34804013_34804015delCAG	ENSP00000192788:p.Ser308del					UHRF1BP1_ENST00000452449.2_In_Frame_Del_p.NS304del	p.NS304del	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			8	1083_1085	+			304					Q9NXE0	In_Frame_Del	DEL	ENST00000192788.5	37	c.912_914delCAG	CCDS43455.1																																																																																				0.552	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		9	1151						9	1151	---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91296568	91296570	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr6:91296568_91296570delGAG	ENST00000369329.3	-	1	194_196	c.33_35delCTC	c.(31-36)tcctcg>tcg	p.11_12SS>S	MAP3K7_ENST00000369332.3_In_Frame_Del_p.11_12SS>S|MAP3K7_ENST00000369327.3_In_Frame_Del_p.11_12SS>S|MAP3K7_ENST00000369325.3_In_Frame_Del_p.11_12SS>S	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	11	Interaction with MAPK8IP1. {ECO:0000250}.|Poly-Ser.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|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)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGCCGAAGACGAGGAGGAGGAGG	0.655																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(31-36)tcg>tc		mitogen-activated protein kinase kinase kinase 7																																				SO:0001651	inframe_deletion	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|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|stress-activated MAPK cascade|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91296568_91296570delGAG	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.33_35delCTC	6.37:g.91296577_91296579delGAG	ENSP00000358335:p.Ser14del					MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del	p.SS13del	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	1	194_196	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	13			Poly-Ser.		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	In_Frame_Del	DEL	ENST00000369329.3	37	c.33_35delCTC	CCDS5028.1																																																																																				0.655	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		8	125						8	125	---	---	---	---
SOGA3	387104	broad.mit.edu	37	6	127804080	127804080	+	Frame_Shift_Del	DEL	T	T	-	rs34142169		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr6:127804080delT	ENST00000525778.1	-	5	2280	c.1535delA	c.(1534-1536)aagfs	p.K512fs	SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000556132.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs			Q5TF21	SOGA3_HUMAN	SOGA family member 3	512					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CTGTTGAGCCTTTTTTTCAGA	0.294																																						ENST00000556132.1																			0											c.(1534-1536)agfs		SOGA family member 3							133.0	121.0	125.0					6																	127804080		1790	4063	5853	SO:0001589	frameshift_variant	387104					integral to membrane		g.chr6:127804080delT	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1535delA	6.37:g.127804080delT	ENSP00000434570:p.Lys512fs					SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs	p.K512fs	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			5	2399	-			512						Frame_Shift_Del	DEL	ENST00000525778.1	37	c.1535delA	CCDS43505.1																																																																																				0.294	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		7	481						7	481	---	---	---	---
CCDC28A	25901	broad.mit.edu	37	6	139097330	139097330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr6:139097330delA	ENST00000332797.6	+	2	498	c.343delA	c.(343-345)aaafs	p.K116fs		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	116								p.N117fs*5(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGTCAATGCCAAAAAAAATGC	0.413																																						ENST00000332797.6																			2	Deletion - Frameshift(2)	p.N117fs*5(2)	large_intestine(2)	autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13						c.(343-345)aafs		coiled-coil domain containing 28A							112.0	108.0	109.0					6																	139097330		2203	4300	6503	SO:0001589	frameshift_variant	25901							g.chr6:139097330delA	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.343delA	6.37:g.139097330delA	ENSP00000332716:p.Lys116fs						p.K116fs	NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	2	498	+			116					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Frame_Shift_Del	DEL	ENST00000332797.6	37	c.343delA	CCDS5192.1																																																																																				0.413	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		9	456						9	456	---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146264834	146264836	+	In_Frame_Del	DEL	ATC	ATC	-	rs561556028		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr6:146264834_146264836delATC	ENST00000367505.2	-	9	1945_1947	c.1681_1683delGAT	c.(1681-1683)gatdel	p.D561del	SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del|SHPRH_ENST00000367503.3_In_Frame_Del_p.D561del			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	561					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AATAGTAAGGATCATCATCATCA	0.36																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(1681-1683)del		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146264834_146264836delATC	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1681_1683delGAT	6.37:g.146264843_146264845delATC	ENSP00000356475:p.Asp561del					SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del|SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del	p.D561del	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	9	2079_2081	-		Ovarian(120;0.0365)	561					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	In_Frame_Del	DEL	ENST00000367505.2	37	c.1681_1683delGAT	CCDS43513.2																																																																																				0.360	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		7	604						7	604	---	---	---	---
SYNJ2	8871	broad.mit.edu	37	6	158508009	158508009	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr6:158508009delC	ENST00000355585.4	+	23	3406	c.3331delC	c.(3331-3333)cccfs	p.P1114fs	SYNJ2_ENST00000367121.3_Frame_Shift_Del_p.P1114fs|SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.P199fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1114	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.P1113fs*5(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCCGCAGAGACCCCCCCCTCC	0.637																																						ENST00000355585.4																			1	Deletion - Frameshift(1)	p.P1113fs*5(1)	large_intestine(1)	biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3331-3333)ccfs		synaptojanin 2							31.0	35.0	34.0					6																	158508009		2203	4300	6503	SO:0001589	frameshift_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158508009delC	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3331delC	6.37:g.158508009delC	ENSP00000347792:p.Pro1114fs					SYNJ2_ENST00000367121.3_Frame_Shift_Del_p.P1114fs|SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.P199fs	p.P1114fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	23	3406	+			1114			Pro-rich.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Frame_Shift_Del	DEL	ENST00000355585.4	37	c.3331delC	CCDS5254.1																																																																																				0.637	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			7	249						7	249	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151|rs3779607	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		12	108						12	108	---	---	---	---
TWISTNB	221830	broad.mit.edu	37	7	19738111	19738113	+	In_Frame_Del	DEL	TTC	TTC	-	rs561305387	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:19738111_19738113delTTC	ENST00000222567.5	-	4	913_915	c.843_845delGAA	c.(841-846)aagaaa>aaa	p.281_282KK>K		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	281	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTGGTGCTTTTTCTTCTTCTTCT	0.433														10	0.00199681	0.0076	0.0	5008	,	,		16756	0.0		0.0	False		,,,				2504	0.0					ENST00000222567.5																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(841-846)aaa>aa		TWIST neighbor				24,4238		4,16,2111						-2.7	0.6			252	11,8239		5,1,4119	no	coding	TWISTNB	NM_001002926.1		9,17,6230	A1A1,A1R,RR		0.1333,0.5631,0.2797				35,12477				SO:0001651	inframe_deletion	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19738111_19738113delTTC	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.843_845delGAA	7.37:g.19738120_19738122delTTC	ENSP00000222567:p.Lys283del						p.KK281del	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN			4	913_915	-			281			Lys-rich.		A0PJ45|B7Z724	In_Frame_Del	DEL	ENST00000222567.5	37	c.843_845delGAA	CCDS34606.1																																																																																				0.433	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			8	2248						8	2248	---	---	---	---
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	CGA	-	rs368428758|rs10951154|rs544314279	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:27135314_27135316delCGA	ENST00000343060.4	-	1	277_279	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.R73del	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154). {ECO:0000269|PubMed:11091361, ECO:0000269|PubMed:14702039}.		abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.65											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		37	0.00738818	0.0	0.0144	5008	,	,		11776	0.001		0.0209	False		,,,				2504	0.0051					ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(214-219)cac>ca		homeobox A1																																				SO:0001651	inframe_deletion	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135314_27135316delCGA		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.216_218delTCG	7.37:g.27135314_27135316delCGA	ENSP00000343246:p.Arg73del		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del|HOTAIRM1_ENST00000495032.1_RNA	p.HR72del	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	277_279	-			72			Poly-His.		A4D184|B2R8U7|O43363	In_Frame_Del	DEL	ENST00000343060.4	37	c.216_218delTCG	CCDS5401.1																																																																																				0.650	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			9	239						9	239	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-	rs531015144|rs539372318	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCAATTGTTCGTGTGTGTGTGT	0.356														5	0.000998403	0.0023	0.0	5008	,	,		19637	0.002		0.0	False		,,,				2504	0.0					ENST00000443402.2																			0																,	19,1,3534		0,0,19,0,1,1757					,	-0.1	0.0			199	9,6,7813		1,0,7,0,6,3900	no	intron,intron	TARP	NM_001003806.1,NM_001003799.1	,	1,0,26,0,7,5657	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1916,0.5627,0.3075	,	,		28,7,11347						0							g.chr7:38301855_38301856delGT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38301865_38301866delGT								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	330	-									RNA	DEL	ENST00000443402.2	37																																																																																						0.356	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		10	610						10	610	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-	rs376935907		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:65150816delA	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TTCATCCCTCACCCCCCCCCC	0.463																																						ENST00000430126.2																			0																																																			0							g.chr7:65150816delA	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150816delA														0	757	+									RNA	DEL	ENST00000430126.2	37																																																																																						0.463	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		11	88						11	88	---	---	---	---
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		TTTCTTTCCCttttttttttt	0.512																																						ENST00000457166.1																			0																																																			0							g.chr7:66304731delT			7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66304731delT								NR_003934.1						0	189	-									RNA	DEL	ENST00000457166.1	37																																																																																						0.512	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346561.1	NR_003934		8	33						8	33	---	---	---	---
TRBV7-4	28594	broad.mit.edu	37	7	142176678	142176679	+	RNA	DEL	CA	CA	-	rs147246909		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:142176678_142176679delCA	ENST00000390369.2	-	0	49									T cell receptor beta variable 7-4 (gene/pseudogene)																		GTAGTCATCGCACACACACACA	0.46																																						ENST00000390369.2																			0																	118,3528		13,92,1718						-5.4	0.0			116	306,7588		28,250,3669	no	intergenic				41,342,5387	A1A1,A1R,RR		3.8764,3.2364,3.6742				424,11116						0							g.chr7:142176678_142176679delCA	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253409	ENSG00000253409		"""T cell receptors / TRB locus"""	12238	other	T cell receptor gene			"""T cell receptor beta variable 7-4"""			8650574	Standard	NG_001333		Approved	TRBV74, TCRBV6S8A2T, TCRBV7S4			OTTHUMG00000158508		7.37:g.142176688_142176689delCA														0	49	-									RNA	DEL	ENST00000390369.2	37																																																																																						0.460	TRBV7-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351214.2	NG_001333		12	278						12	278	---	---	---	---
MTMR9	66036	broad.mit.edu	37	8	11162509	11162509	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr8:11162509delA	ENST00000221086.3	+	4	1050	c.577delA	c.(577-579)aaafs	p.K194fs	MTMR9_ENST00000526292.1_Frame_Shift_Del_p.K109fs	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	194	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.			K -> R (in Ref. 2; BAA91170). {ECO:0000305}.		cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CTATTACCACAAAAAAAATGG	0.453																																						ENST00000221086.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16						c.(577-579)aafs		myotubularin related protein 9							97.0	82.0	87.0					8																	11162509		2203	4300	6503	SO:0001589	frameshift_variant	66036					cytoplasm	phosphatase activity|protein binding	g.chr8:11162509delA	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.577delA	8.37:g.11162509delA	ENSP00000221086:p.Lys194fs					MTMR9_ENST00000526292.1_Frame_Shift_Del_p.K109fs	p.K194fs	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	4	1050	+			194	K -> R (in Ref. 2; BAA91170).		Myotubularin phosphatase.		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Frame_Shift_Del	DEL	ENST00000221086.3	37	c.577delA	CCDS5979.1																																																																																				0.453	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		7	309						7	309	---	---	---	---
BMP1	649	broad.mit.edu	37	8	22020159	22020161	+	5'Flank	DEL	GTG	GTG	-	rs183533911	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr8:22020159_22020161delGTG	ENST00000306385.5	+	0	0				BMP1_ENST00000306349.8_5'Flank|SFTPC_ENST00000521315.1_In_Frame_Del_p.V44del|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|BMP1_ENST00000397814.3_5'Flank|SFTPC_ENST00000524255.1_Intron|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|BMP1_ENST00000397816.3_5'Flank|SFTPC_ENST00000520605.1_Intron	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCTTCTTATCGTGGTGGTGGTGG	0.601																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(115-117)del		surfactant protein C																																				SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22020159_22020161delGTG		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020168_22020170delGTG	Exception_encountered					SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del	p.V44del			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	147_149	+			44					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	In_Frame_Del	DEL	ENST00000306385.5	37	c.115_117delGTG	CCDS6026.1																																																																																				0.601	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		7	567						7	567	---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37728933	37728933	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr8:37728933delT	ENST00000330843.4	-	4	3399	c.3387delA	c.(3385-3387)aaafs	p.K1129fs	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1129					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGCTGTGGCTTTTTTTTGAG	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(3385-3387)aafs		RAB11 family interacting protein 1 (class I)							134.0	143.0	140.0					8																	37728933		2203	4300	6503	SO:0001589	frameshift_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37728933delT	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3387delA	8.37:g.37728933delT	ENSP00000331342:p.Lys1129fs		OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	p.K1129fs	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3399	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1129					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Frame_Shift_Del	DEL	ENST00000330843.4	37	c.3387delA	CCDS34882.1																																																																																				0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		8	989						8	989	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr8:70514026delT	ENST00000260128.4	+	10	1740	c.1023delT	c.(1021-1023)cctfs	p.P341fs	SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	341					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1021-1023)ccfs		sulfatase 1							396.0	343.0	361.0					8																	70514026		2203	4300	6503	SO:0001589	frameshift_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70514026delT	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1023delT	8.37:g.70514026delT	ENSP00000260128:p.Pro341fs					SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR	p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		10	1740	+	Breast(64;0.0654)		341					Q86YV8|Q8NCA2|Q9UPS5	Frame_Shift_Del	DEL	ENST00000260128.4	37	c.1023delT	CCDS6204.1																																																																																				0.408	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		7	1556						7	1556	---	---	---	---
E2F5	1875	broad.mit.edu	37	8	86129664	86129664	+	IGR	DEL	T	T	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr8:86129664delT	ENST00000416274.2	+	0	1728				C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000417663.2_Frame_Shift_Del_p.N22fs	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding						gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						AGCCTTAAAGTTTTTTTGGCT	0.343																																						ENST00000417663.2																			0											c.(64-66)acfs		chromosome 8 open reading frame 59							196.0	178.0	184.0					8																	86129664		1818	4077	5895	SO:0001628	intergenic_variant	401466							g.chr8:86129664delT	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785		8.37:g.86129664delT						C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs	p.N22fs	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN			2	136	-			22					E9PBN9|Q16601|Q92756	Frame_Shift_Del	DEL	ENST00000416274.2	37	c.65delA	CCDS47885.1																																																																																				0.343	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		15	1099						15	1099	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103289348	103289349	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr8:103289348_103289349insT	ENST00000520539.1	-	45	6966_6967	c.6360_6361insA	c.(6358-6363)aaagaafs	p.E2121fs	UBR5_ENST00000521922.1_Frame_Shift_Ins_p.E2115fs|UBR5_ENST00000220959.4_Frame_Shift_Ins_p.E2121fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2121					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.E2121fs*28(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTTCCCCTTCTTTTTTTTGCC	0.381																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			2	Deletion - Frameshift(2)	p.E2121fs*28(2)	breast(1)|kidney(1)	NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(6358-6363)aaaaggfs		ubiquitin protein ligase E3 component n-recognin 5																																				SO:0001589	frameshift_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103289348_103289349insT	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6361dupA	8.37:g.103289356_103289356dupT	ENSP00000429084:p.Glu2121fs					UBR5_ENST00000220959.4_Frame_Shift_Ins_p.R2121fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.R2115fs	p.R2121fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		45	6966_6967	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2121					B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Ins	INS	ENST00000520539.1	37	c.6360_6361insA	CCDS34933.1																																																																																				0.381	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		7	990						7	990	---	---	---	---
OXR1	55074	broad.mit.edu	37	8	107704955	107704955	+	Splice_Site	DEL	G	G	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr8:107704955delG	ENST00000442977.2	+	6	627		c.e6-1		OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000517566.2_Splice_Site|OXR1_ENST00000445937.1_Splice_Site|OXR1_ENST00000497705.1_Splice_Site|OXR1_ENST00000531443.1_Splice_Site	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1						adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAAAAAAAAGAATCCTGATG	0.348																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.e7-1		oxidation resistance 1							34.0	37.0	36.0					8																	107704955		2203	4299	6502	SO:0001630	splice_region_variant	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107704955delG	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.529-1G>-	8.37:g.107704955delG						OXR1_ENST00000517566.2_Splice_Site|OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000497705.1_Splice_Site|OXR1_ENST00000442977.2_Splice_Site|OXR1_ENST00000312046.6_Splice_Site		NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		7	786	+								A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Splice_Site	DEL	ENST00000442977.2	37		CCDS56548.1																																																																																				0.348	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354	Intron	10	433						10	433	---	---	---	---
MYC	4609	broad.mit.edu	37	8	128750605	128750607	+	In_Frame_Del	DEL	CAG	CAG	-	rs61752959	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr8:128750605_128750607delCAG	ENST00000259523.6	+	2	1302_1304	c.97_99delCAG	c.(97-99)cagdel	p.Q37del	MYC_ENST00000524013.1_In_Frame_Del_p.Q51del|MYC_ENST00000377970.2_In_Frame_Del_p.Q52del			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	37	Poly-Gln.				branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	GAACTTCTACCAGCAGCAGCAGC	0.611		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377970.2		3		Dom	yes		8	8q24.12-q24.13	4609	"""A, T"""	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""		"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""		1	Substitution - Missense(1)	p.Q33H(1)	skin(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(142-144)del		v-myc avian myelocytomatosis viral oncogene homolog																																				SO:0001651	inframe_deletion	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128750605_128750607delCAG		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.97_99delCAG	8.37:g.128750614_128750616delCAG	ENSP00000259523:p.Gln37del		OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_ENST00000524013.1_In_Frame_Del_p.Q51del|MYC_ENST00000259523.6_In_Frame_Del_p.Q37del	p.Q52del	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	2	652_654	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	37					A8WFE7|P01107|Q14026	In_Frame_Del	DEL	ENST00000259523.6	37	c.142_144delCAG																																																																																					0.611	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			9	622						9	622	---	---	---	---
CYP11B2	1585	broad.mit.edu	37	8	143993951	143993953	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr8:143993951_143993953delGCA	ENST00000323110.2	-	8	1393_1395	c.1391_1393delTGC	c.(1390-1395)ctgcac>cac	p.L464del		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	464					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CTTACGTGGTGCAGCAGCAGCAG	0.685									Familial Hyperaldosteronism type I																													ENST00000323110.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.(1390-1395)cac>c		cytochrome P450, family 11, subfamily B, polypeptide 2	Candesartan(DB00796)|Metyrapone(DB01011)																																			SO:0001651	inframe_deletion	1585	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143993951_143993953delGCA	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1391_1393delTGC	8.37:g.143993960_143993962delGCA	ENSP00000325822:p.Leu464del						p.LH464del	NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN			8	1393_1395	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		464					B0ZBE4|Q16726	In_Frame_Del	DEL	ENST00000323110.2	37	c.1391_1393delTGC	CCDS6393.1																																																																																				0.685	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			7	463						7	463	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145000951	145000953	+	Splice_Site	DEL	CCT	CCT	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr8:145000951_145000953delCCT	ENST00000322810.4	-	30	4623_4625	c.4454_4456delAGG	c.(4453-4458)gagggg>ggg	p.E1485del	PLEC_ENST00000436759.2_Splice_Site_p.E1375del|PLEC_ENST00000345136.3_Splice_Site_p.E1348del|PLEC_ENST00000357649.2_Splice_Site_p.E1352del|PLEC_ENST00000354589.3_Splice_Site_p.E1348del|PLEC_ENST00000398774.2_Splice_Site_p.E1316del|PLEC_ENST00000354958.2_Splice_Site_p.E1326del|PLEC_ENST00000356346.3_Splice_Site_p.E1334del|PLEC_ENST00000527096.1_Splice_Site_p.E1371del	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1485	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGGGCTGTACCTCCTCCTCCTC	0.621																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.e30+1		plectin																																				SO:0001630	splice_region_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145000951_145000953delCCT	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4455+1AGG>-	8.37:g.145000960_145000962delCCT						PLEC_ENST00000354958.2_Splice_Site_p.G1326_splice|PLEC_ENST00000345136.3_Splice_Site_p.G1348_splice|PLEC_ENST00000398774.2_Splice_Site_p.G1316_splice|PLEC_ENST00000436759.2_Splice_Site_p.G1375_splice|PLEC_ENST00000357649.2_Splice_Site_p.G1352_splice|PLEC_ENST00000527096.1_Splice_Site_p.G1371_splice|PLEC_ENST00000354589.3_Splice_Site_p.G1348_splice|PLEC_ENST00000356346.3_Splice_Site_p.G1334_splice	p.G1485_splice	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			30	4623_4625	-			1485			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Splice_Site	DEL	ENST00000322810.4	37	c.4455_splice	CCDS43772.1																																																																																				0.621	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	In_Frame_Del	7	943						7	943	---	---	---	---
KANK1	23189	broad.mit.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	GAG	-	rs569686873|rs370051574		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr9:732475_732477delGAG	ENST00000382303.1	+	10	3755_3757	c.3103_3105delGAG	c.(3103-3105)gagdel	p.E1039del	KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1039					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCTTGAAGAAGAGGAGGAGGAGG	0.463																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)del		KN motif and ankyrin repeat domains 1			,	16,0,4248		0,0,16,0,0,2116					,	5.3	1.0		dbSNP_132	135	3,2,8249		0,0,3,1,0,4123	no	codingComplex,codingComplex	KANK1	NM_153186.3,NM_015158.2	,	0,0,19,1,0,6239	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0606,0.3752,0.1678	,	,		19,2,12497				SO:0001651	inframe_deletion	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732475_732477delGAG	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3103_3105delGAG	9.37:g.732484_732486delGAG	ENSP00000371740:p.Glu1039del					KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000489369.1_3'UTR	p.E1039del	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3755_3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1039					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	In_Frame_Del	DEL	ENST00000382303.1	37	c.3103_3105delGAG	CCDS34976.1																																																																																				0.463	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		8	584						8	584	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del	p.L221del			O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		8	239						8	239	---	---	---	---
TSC1	7248	broad.mit.edu	37	9	135771988	135771990	+	In_Frame_Del	DEL	GCT	GCT	-	rs397514812|rs201192125	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr9:135771988_135771990delGCT	ENST00000298552.3	-	23	3348_3350	c.3127_3129delAGC	c.(3127-3129)agcdel	p.S1043del	TSC1_ENST00000545250.1_In_Frame_Del_p.S992del|TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1043	Poly-Ser.		Missing (in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling). {ECO:0000269|PubMed:22161988}.		activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.S1043N(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TAGAAAGCTCgctgctgctgctg	0.64			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000298552.3			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	"""D, Mis, N, F, S"""	tuberous sclerosis 1 gene			"""E, O"""		"""hamartoma, renal cell"""			2	Substitution - Missense(1)|Unknown(1)	p.S1043N(1)|p.?(1)	central_nervous_system(1)|bone(1)	NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65						c.(3127-3129)del		tuberous sclerosis 1																																				SO:0001651	inframe_deletion	0	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135771988_135771990delGCT	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.3127_3129delAGC	9.37:g.135771997_135771999delGCT	ENSP00000298552:p.Ser1043del					TSC1_ENST00000545250.1_In_Frame_Del_p.S992del|TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del	p.S1043del	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	23	3348_3350	-			1043			Poly-Ser.		B7Z897|Q5VVN5	In_Frame_Del	DEL	ENST00000298552.3	37	c.3127_3129delAGC	CCDS6956.1																																																																																				0.640	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			7	204						7	204	---	---	---	---
FAM171A1	221061	broad.mit.edu	37	10	15254987	15254989	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr10:15254987_15254989delTCA	ENST00000378116.4	-	8	2604_2606	c.2598_2600delTGA	c.(2596-2601)gatgac>gac	p.866_867DD>D	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	866						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTCTCCTTGGTCATCATCATCAT	0.571																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(2596-2601)gac>ga		family with sequence similarity 171, member A1																																				SO:0001651	inframe_deletion	221061					integral to membrane		g.chr10:15254987_15254989delTCA	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2598_2600delTGA	10.37:g.15254996_15254998delTCA	ENSP00000367356:p.Asp867del						p.DD866del	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	2604_2606	-			866					D3DRT9|Q32M49|Q8N4I0	In_Frame_Del	DEL	ENST00000378116.4	37	c.2598_2600delTGA	CCDS31154.1																																																																																				0.571	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		8	1089						8	1089	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	GGC	-	rs12246234		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr10:55587198_55587200delGGC	ENST00000320301.6	-	32	4714_4716	c.4320_4322delGCC	c.(4318-4323)ccgcct>cct	p.1440_1441PP>P	PCDH15_ENST00000395433.1_In_Frame_Del_p.1415_1416PP>P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000437009.1_In_Frame_Del_p.1369_1370PP>P|PCDH15_ENST00000409834.1_In_Frame_Del_p.1051_1052PP>P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_In_Frame_Del_p.1400_1401PP>P|PCDH15_ENST00000414778.1_In_Frame_Del_p.1442_1443PP>P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_In_Frame_Del_p.1437_1438PP>P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000361849.3_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000395445.1_In_Frame_Del_p.1447_1448PP>P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1440	Poly-Pro.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4339-4344)cct>cc		protocadherin-related 15																																				SO:0001651	inframe_deletion	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587198_55587200delGGC	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4320_4322delGCC	10.37:g.55587207_55587209delGGC	ENSP00000322604:p.Pro1443del	HNSCC(58;0.16)				PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del	p.PP1449del	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4735_4737	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1442					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	In_Frame_Del	DEL	ENST00000320301.6	37	c.4341_4343delGCC	CCDS7248.1																																																																																				0.571	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		8	498						8	498	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-	rs201441910		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1.0			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		11	885						11	885	---	---	---	---
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	CTG	-	rs61867552	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr11:864443_864445delCTG	ENST00000397404.1	+	5	521_523	c.262_264delCTG	c.(262-264)ctgdel	p.L92del	TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.65																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(262-264)del		tetraspanin 4																																				SO:0001651	inframe_deletion	0				protein complex assembly	integral to plasma membrane		g.chr11:864443_864445delCTG	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.262_264delCTG	11.37:g.864452_864454delCTG	ENSP00000380553:p.Leu92del					TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del	p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	521_523	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	In_Frame_Del	DEL	ENST00000397404.1	37	c.262_264delCTG	CCDS7721.1																																																																																				0.650	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			12	648						12	648	---	---	---	---
AP2A2	161	broad.mit.edu	37	11	970195	970195	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr11:970195delA	ENST00000448903.2	+	3	304	c.163delA	c.(163-165)aaafs	p.K57fs	AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	57	Lipid-binding.				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)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|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)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.K57fs*24(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCTATAGTAAAAAAAAGTA	0.488																																						ENST00000448903.2																			1	Deletion - Frameshift(1)	p.K57fs*24(1)	large_intestine(1)	breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(163-165)aafs		adaptor-related protein complex 2, alpha 2 subunit							132.0	134.0	134.0					11																	970195		1937	4154	6091	SO:0001589	frameshift_variant	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|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|cytosol	lipid binding|protein transporter activity	g.chr11:970195delA	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.163delA	11.37:g.970195delA	ENSP00000413234:p.Lys57fs					AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs	p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	3	304	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	57			Lipid-binding.		O75403|Q53ET1|Q96SI8	Frame_Shift_Del	DEL	ENST00000448903.2	37	c.163delA	CCDS44512.1																																																																																				0.488	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		7	736						7	736	---	---	---	---
FTH1	2495	broad.mit.edu	37	11	61732517	61732517	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr11:61732517delT	ENST00000273550.7	-	3	563	c.329delA	c.(328-330)aatfs	p.N110fs	AP003733.1_ENST00000601917.1_5'Flank|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs|FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	110	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	CTGATTCACATTTTTTTCCAA	0.423																																						ENST00000273550.7																			0				NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(328-330)atfs		ferritin, heavy polypeptide 1	Iron Dextran(DB00893)						193.0	185.0	188.0					11																	61732517		1894	4106	6000	SO:0001589	frameshift_variant	2495				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	g.chr11:61732517delT		CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"""apoferritin"", ""placenta immunoregulatory factor"", ""proliferation-inducing protein 15"""	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.329delA	11.37:g.61732517delT	ENSP00000273550:p.Asn110fs					FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs	p.N110fs	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN			3	563	-			110			Ferritin-like diiron.		B3KNR5|Q3KRA8|Q3SWW1	Frame_Shift_Del	DEL	ENST00000273550.7	37	c.329delA	CCDS41655.1																																																																																				0.423	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1	NM_002032		7	1266						7	1266	---	---	---	---
KRTAP5-7	440050	broad.mit.edu	37	11	71238416	71238436	+	In_Frame_Del	DEL	TGTGGCTCTGGCTGTGGGGGA	TGTGGCTCTGGCTGTGGGGGA	-	rs554986629|rs201675734|rs572895813	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr11:71238416_71238436delTGTGGCTCTGGCTGTGGGGGA	ENST00000398536.4	+	1	104_124	c.70_90delTGTGGCTCTGGCTGTGGGGGA	c.(70-90)tgtggctctggctgtgggggadel	p.CGSGCGG24del		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	24						keratin filament (GO:0045095)		p.G30G(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CTGTGGGGGCTGTGGCTCTGGCTGTGGGGGATGTGGCTCCA	0.665																																						ENST00000398536.4																			1	Substitution - coding silent(1)	p.G30G(1)	kidney(1)	breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(70-90)del		keratin associated protein 5-7																																				SO:0001651	inframe_deletion	440050					keratin filament		g.chr11:71238416_71238436delTGTGGCTCTGGCTGTGGGGGA	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.70_90delTGTGGCTCTGGCTGTGGGGGA	11.37:g.71238416_71238436delTGTGGCTCTGGCTGTGGGGGA	ENSP00000417330:p.Cys24_Gly30del						p.CGSGCGG24del	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	104_124	+			24					B2RNM3|Q701N5	In_Frame_Del	DEL	ENST00000398536.4	37	c.70_90delTGTGGCTCTGGCTGTGGGGGA	CCDS41682.1																																																																																				0.665	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			7	1245						7	1245	---	---	---	---
TAS2R42	353164	broad.mit.edu	37	12	11338799	11338799	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:11338799delA	ENST00000334266.1	-	1	744	c.745delT	c.(745-747)tccfs	p.S249fs		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	249					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			ACTTGTAAGGAAAAAAAATGA	0.423																																					Melanoma(15;352 722 10077 19546 48810)	ENST00000334266.1																			0				breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(745-747)ccfs		taste receptor, type 2, member 42							78.0	76.0	77.0					12																	11338799		2203	4300	6503	SO:0001589	frameshift_variant	353164				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11338799delA	AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.745delT	12.37:g.11338799delA	ENSP00000334050:p.Ser249fs						p.S249fs	NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0455)		1	744	-			249					A2RRP4|Q645X0	Frame_Shift_Del	DEL	ENST00000334266.1	37	c.745delT	CCDS31747.1																																																																																				0.423	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1	NM_181429		10	516						10	516	---	---	---	---
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	ATG	-	rs371197465		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:49087434_49087436delATG	ENST00000261900.3	-	9	1783_1785	c.1561_1563delCAT	c.(1561-1563)catdel	p.H521del		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	521	His-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|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)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|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)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1561-1563)del		cyclin T1				12,4250		0,12,2119						4.8	1.0			307	3,8241		1,1,4120	no	coding	CCNT1	NM_001240.2		1,13,6239	A1A1,A1R,RR		0.0364,0.2816,0.1199				15,12491				SO:0001651	inframe_deletion	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087434_49087436delATG	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1561_1563delCAT	12.37:g.49087443_49087445delATG	ENSP00000261900:p.His521del						p.H521del	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1783_1785	-			521			His-rich.		A9XU13|E7EX76|O60581	In_Frame_Del	DEL	ENST00000261900.3	37	c.1561_1563delCAT	CCDS8766.1																																																																																				0.443	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		32	1941						32	1941	---	---	---	---
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			12	1427						12	1427	---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759192	55759192	+	Frame_Shift_Del	DEL	T	T	-	rs398102300|rs75456529	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:55759192delT	ENST00000343399.3	+	1	298	c.298delT	c.(298-300)tttfs	p.F102fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GGCTCAGCTATTTTTTTTCAT	0.438													|||unknown(NO_COVERAGE)	81	0.0161741	0.0	0.0	5008	,	,		20060	0.0724		0.002	False		,,,				2504	0.0061					ENST00000343399.3																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(298-300)ttfs		olfactory receptor, family 6, subfamily C, member 75				2,4262		0,2,2130	132.0	126.0	128.0			-5.1	0.0	12	dbSNP_131	128	4,8250		0,4,4123	no	frameshift	OR6C75	NM_001005497.1		0,6,6253	A1A1,A1R,RR		0.0485,0.0469,0.0479			55759192	6,12512	2203	4300	6503	SO:0001589	frameshift_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759192delT		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.298delT	12.37:g.55759192delT	ENSP00000368987:p.Phe102fs						p.F102fs	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	298	+			102						Frame_Shift_Del	DEL	ENST00000343399.3	37	c.298delT	CCDS31820.1																																																																																				0.438	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			8	852						8	852	---	---	---	---
OR6C65	403282	broad.mit.edu	37	12	55794610	55794610	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:55794610delT	ENST00000379665.2	+	1	397	c.298delT	c.(298-300)tttfs	p.F101fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L102fs*1(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGCCCAAGTATTTTTTTTAAT	0.358																																						ENST00000379665.2																			1	Deletion - Frameshift(1)	p.L102fs*1(1)	large_intestine(1)	cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						c.(298-300)ttfs		olfactory receptor, family 6, subfamily C, member 65							81.0	87.0	85.0					12																	55794610		2203	4300	6503	SO:0001589	frameshift_variant	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55794610delT		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.298delT	12.37:g.55794610delT	ENSP00000368986:p.Phe101fs						p.F101fs	NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN			1	397	+			101					B2RNH9	Frame_Shift_Del	DEL	ENST00000379665.2	37	c.298delT	CCDS31821.1																																																																																				0.358	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			11	834						11	834	---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88566417	88566417	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:88566417delT	ENST00000266712.6	+	8	1314	c.1094delT	c.(1093-1095)cttfs	p.L365fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	365					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GCATCGAACCTTTTTTTTCCA	0.313																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1093-1095)ctfs		transmembrane and tetratricopeptide repeat containing 3				18,4246		6,6,2120	135.0	127.0	130.0			5.5	1.0	12		131	19,8235		6,7,4114	no	frameshift	TMTC3	NM_181783.3		12,13,6234	A1A1,A1R,RR		0.2302,0.4221,0.2956			88566417	37,12481	2203	4299	6502	SO:0001589	frameshift_variant	160418					integral to membrane	binding	g.chr12:88566417delT		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1094delT	12.37:g.88566417delT	ENSP00000266712:p.Leu365fs						p.L365fs	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			8	1314	+			365					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Frame_Shift_Del	DEL	ENST00000266712.6	37	c.1094delT	CCDS9032.1																																																																																				0.313	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		7	659						7	659	---	---	---	---
RPLP0	6175	broad.mit.edu	37	12	120634652	120634654	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:120634652_120634654delGCA	ENST00000551150.1	-	7	1191_1193	c.876_878delTGC	c.(874-879)gctgca>gca	p.292_293AA>A	RPLP0_ENST00000552292.1_In_Frame_Del_p.82_83AA>A|RPLP0_ENST00000392514.4_In_Frame_Del_p.292_293AA>A|RPLP0_ENST00000550296.1_5'Flank|RPLP0_ENST00000546989.1_In_Frame_Del_p.256_257AA>A|GCN1L1_ENST00000300648.6_5'Flank|RPLP0_ENST00000228306.4_In_Frame_Del_p.292_293AA>A|RPLP0_ENST00000313104.5_In_Frame_Del_p.230_231AA>A			P05388	RLA0_HUMAN	ribosomal protein, large, P0	292					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCTGGGGCTgcagcagcagcag	0.557																																						ENST00000551150.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15						c.(874-879)gca>gc		ribosomal protein, large, P0			,	47,4023		14,19,2002					,	-6.1	0.6			22	71,7719		26,19,3850	no	coding,coding	RPLP0	NM_053275.3,NM_001002.3	,	40,38,5852	A1A1,A1R,RR		0.9114,1.1548,0.9949	,	,		118,11742				SO:0001651	inframe_deletion	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120634652_120634654delGCA	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.876_878delTGC	12.37:g.120634661_120634663delGCA	ENSP00000449328:p.Ala294del					RPLP0_ENST00000552292.1_In_Frame_Del_p.AA82del|RPLP0_ENST00000313104.5_In_Frame_Del_p.AA230del|RPLP0_ENST00000546989.1_In_Frame_Del_p.AA256del|RPLP0_ENST00000228306.4_In_Frame_Del_p.AA292del|RPLP0_ENST00000392514.4_In_Frame_Del_p.AA292del	p.AA292del			P05388	RLA0_HUMAN			7	1191_1193	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		292					Q3B7A4|Q9BVK4	In_Frame_Del	DEL	ENST00000551150.1	37	c.876_878delTGC	CCDS9193.1																																																																																				0.557	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		7	339						7	339	---	---	---	---
POP5	51367	broad.mit.edu	37	12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-	rs188092231|rs369463367		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:121017154_121017156delCTC	ENST00000357500.4	-	5	492_494	c.457_459delGAG	c.(457-459)gagdel	p.E153del	POP5_ENST00000341039.2_In_Frame_Del_p.E103del|POP5_ENST00000542776.1_5'UTR	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517																																						ENST00000341039.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(307-309)del		processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)																																				SO:0001651	inframe_deletion	51367				tRNA processing		protein binding|ribonuclease P activity	g.chr12:121017154_121017156delCTC	AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.457_459delGAG	12.37:g.121017163_121017165delCTC	ENSP00000350098:p.Glu153del					POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del	p.E103del	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN			4	323_325	-	all_neural(191;0.077)|Medulloblastoma(191;0.0922)		153					A6NL80|Q53FS5|Q9Y2Q6	In_Frame_Del	DEL	ENST00000357500.4	37	c.307_309delGAG	CCDS9202.1																																																																																				0.517	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401993.1	NM_015918		7	521						7	521	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(481-483)ttfs		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2			,,	4,21,4229		0,0,4,1,19,2103	46.0	51.0	49.0		,,	2.4	0.0	13		49	5,25,8188		0,1,4,4,16,4084	no	codingComplex,intron,intron	TPTE2	NM_199254.2,NM_130785.3,NM_001141968.1	,,	0,1,8,5,35,6187	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3651,0.5877,0.441	,,	,,	20041394	9,46,12417	2200	4283	6483	SO:0001589	frameshift_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20041394delA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.483delT	13.37:g.20041394delA	ENSP00000383089:p.Phe161fs					TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Intron	p.F161fs			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	7	527	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	161					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Frame_Shift_Del	DEL	ENST00000400230.2	37	c.483delT	CCDS45014.1																																																																																				0.303	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		7	403						7	403	---	---	---	---
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:79918806_79918807insT	ENST00000438737.2	-	15	2621_2622	c.2181_2182insA	c.(2179-2184)aaacagfs	p.Q728fs	RBM26_ENST00000267229.7_Frame_Shift_Ins_p.Q701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.Q704fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	728					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2179-2184)aaaggafs		RNA binding motif protein 26																																				SO:0001589	frameshift_variant	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79918806_79918807insT	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2182dupA	13.37:g.79918815_79918815dupT	ENSP00000387531:p.Gln728fs					RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs	p.G728fs			Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	15	2621_2622	-		Acute lymphoblastic leukemia(28;0.0279)	728					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Frame_Shift_Ins	INS	ENST00000438737.2	37	c.2181_2182insA																																																																																					0.332	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		15	342						15	342	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518338	108518338	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:108518338delC	ENST00000375915.2	-	1	745	c.607delG	c.(607-609)gacfs	p.D203fs		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	203						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCCTGCCCGTCCCCCCCGGCC	0.607																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(607-609)acfs		family with sequence similarity 155, member A							55.0	66.0	63.0					13																	108518338		2203	4300	6503	SO:0001589	frameshift_variant	728215					integral to membrane	binding	g.chr13:108518338delC	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.607delG	13.37:g.108518338delC	ENSP00000365080:p.Asp203fs						p.D203fs	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	745	-			203					B2RUV1|B7Z334	Frame_Shift_Del	DEL	ENST00000375915.2	37	c.607delG	CCDS32006.1																																																																																				0.607	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		13	948						13	948	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518687	108518689	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:108518687_108518689delCTG	ENST00000375915.2	-	1	394_396	c.256_258delCAG	c.(256-258)cagdel	p.Q86del		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	86	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						gccgctgcctctgctgctgctgc	0.719																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(256-258)del		family with sequence similarity 155, member A																																				SO:0001651	inframe_deletion	728215					integral to membrane	binding	g.chr13:108518687_108518689delCTG	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.256_258delCAG	13.37:g.108518696_108518698delCTG	ENSP00000365080:p.Gln86del						p.Q86del	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	394_396	-			86			Poly-Gln.		B2RUV1|B7Z334	In_Frame_Del	DEL	ENST00000375915.2	37	c.256_258delCAG	CCDS32006.1																																																																																				0.719	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		23	287						23	287	---	---	---	---
OR11H12	440153	broad.mit.edu	37	14	19378219	19378219	+	Frame_Shift_Del	DEL	G	G	-	rs201735699	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr14:19378219delG	ENST00000550708.1	+	1	698	c.626delG	c.(625-627)agafs	p.R209fs		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGCCCCAAGAATCCAACTG	0.428													g|G|-|deletion	4	0.000798722	0.0008	0.0014	5008	,	,		25315	0.002		0.0	False		,,,				2504	0.0					ENST00000550708.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(625-627)aafs		olfactory receptor, family 11, subfamily H, member 12				9,1287		1,7,640	1.0	1.0	1.0			0.6	0.5	14		1	9,2605		2,5,1300	no	frameshift	OR11H12	NM_001013354.1		3,12,1940	A1A1,A1R,RR		0.3443,0.6944,0.4604			19378219	18,3892	496	1109	1605	SO:0001589	frameshift_variant	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378219delG		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.626delG	14.37:g.19378219delG	ENSP00000449002:p.Arg209fs						p.R209fs	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	698	+	all_cancers(95;0.00108)		209						Frame_Shift_Del	DEL	ENST00000550708.1	37	c.626delG	CCDS32017.1																																																																																				0.428	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		10	363						10	363	---	---	---	---
RP11-597A11.6	0	broad.mit.edu	37	14	20146543	20146544	+	lincRNA	INS	-	-	GTCCC	rs60511353|rs536110028	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr14:20146543_20146544insGTCCC	ENST00000555580.1	-	0	225				RP11-597A11.1_ENST00000548261.1_RNA																							CCAACTCAGCAGAACAGTGTCA	0.505														1248	0.249201	0.3147	0.3775	5008	,	,		16134	0.1438		0.2396	False		,,,				2504	0.1881					ENST00000555580.1																			0																																																			0							g.chr14:20146543_20146544insGTCCC																													14.37:g.20146543_20146544insGTCCC														0	225	-									RNA	INS	ENST00000555580.1	37																																																																																						0.505	RP11-597A11.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409767.1			9	372						9	372	---	---	---	---
TRDC	28526	broad.mit.edu	37	14	22933391	22933391	+	RNA	DEL	C	C	-	rs36090939	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr14:22933391delC	ENST00000390477.2	+	0	465				AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000556777.1_RNA			B7Z8K6	TRDC_HUMAN	T cell receptor delta constant							integral component of membrane (GO:0016021)											TTAGAAATGGCTAAGAAACCA	0.408													-|C|-|insertion	491	0.0980431	0.1067	0.1167	5008	,	,		20151	0.005		0.1541	False		,,,				2504	0.1115					ENST00000514473.2																			0																																																			0							g.chr14:22933391delC	M22148		14q11.2	2012-02-07			ENSG00000211829	ENSG00000211829		"""T cell receptors / TRD locus"""	12253	other	T cell receptor gene		186810					Standard	NG_001332		Approved			B7Z8K6	OTTHUMG00000170905		14.37:g.22933391delC						TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA								0	225	-									RNA	DEL	ENST00000390477.2	37																																																																																						0.408	TRDC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000410936.1	NG_001332		20	16						20	16	---	---	---	---
TRAC	28755	broad.mit.edu	37	14	23020942	23020942	+	RNA	DEL	T	T	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr14:23020942delT	ENST00000478163.3	+	0	819							P01848	TCA_HUMAN	T cell receptor alpha constant						regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GAGGGGTTTATTTTTTTTTAA	0.468																																						ENST00000478163.3																			0																	3,9,3600		0,0,3,4,1,1798	42.0	42.0	42.0			-9.7	0.0	14		42	2,10,7886		0,0,2,4,2,3941	no	intergenic				0,0,5,8,3,5739	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1519,0.3322,0.2085			23020942	5,19,11486	1893	4132	6025			0							g.chr14:23020942delT	X02592		14q11.2	2012-02-07			ENSG00000229164	ENSG00000277734		"""T cell receptors / TRA locus"""	12029	other	T cell receptor gene		186880				3875483, 8188290	Standard	NG_001332		Approved			P01848	OTTHUMG00000028683		14.37:g.23020942delT														0	819	+									RNA	DEL	ENST00000478163.3	37																																																																																						0.468	TRAC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|exp_conf	TR_C_gene	TR_C_gene	OTTHUMT00000071613.3	NG_001332		8	296						8	296	---	---	---	---
CTAGE5	4253	broad.mit.edu	37	14	39746242	39746243	+	Frame_Shift_Ins	INS	-	-	T	rs75842899|rs78536283	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr14:39746242_39746243insT	ENST00000280083.3	+	2	482_483	c.168_169insT	c.(169-171)tttfs	p.F57fs	CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.F45fs|RP11-407N17.3_ENST00000553728.1_Frame_Shift_Ins_p.F592fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.F57fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.F28fs			O15320	CTGE5_HUMAN	CTAGE family, member 5	57					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTGCTGTTCTCTTTTTTTTGTG	0.371																																						ENST00000553728.1																			0											c.(1771-1776)ctttttfs																																						SO:0001589	frameshift_variant	0							g.chr14:39746242_39746243insT	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.176dupT	14.37:g.39746250_39746250dupT	ENSP00000280083:p.Phe57fs					CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs	p.LF591fs							6	1986_1987	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Frame_Shift_Ins	INS	ENST00000280083.3	37	c.1773_1774insT	CCDS9674.1																																																																																				0.371	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		8	580						8	580	---	---	---	---
ZBTB1	22890	broad.mit.edu	37	14	64989787	64989787	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr14:64989787delA	ENST00000554015.1	+	4	1996	c.1565delA	c.(1564-1566)caafs	p.Q522fs	ZBTB1_ENST00000394712.2_Frame_Shift_Del_p.Q522fs|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000358738.3_Frame_Shift_Del_p.Q522fs			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	522					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		AACAGTATCCAAAAAAAGCAG	0.378																																						ENST00000358738.3																			0				kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13						c.(1564-1566)cafs		zinc finger and BTB domain containing 1							142.0	148.0	146.0					14																	64989787		2203	4300	6503	SO:0001589	frameshift_variant	22890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:64989787delA	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1565delA	14.37:g.64989787delA	ENSP00000451000:p.Gln522fs					RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000554015.1_Frame_Shift_Del_p.Q522fs|ZBTB1_ENST00000394712.2_Frame_Shift_Del_p.Q522fs	p.Q522fs	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)	2	1956	+		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)	522					A8K6S8|Q86SW8	Frame_Shift_Del	DEL	ENST00000554015.1	37	c.1565delA	CCDS45126.1																																																																																				0.378	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			7	1192						7	1192	---	---	---	---
CHGA	1113	broad.mit.edu	37	14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-	rs371215355|rs575196921	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)gagdel	p.E236del	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645														31	0.0061901	0.0197	0.0029	5008	,	,		19158	0.001		0.0	False		,,,				2504	0.002				Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(685-687)del		chromogranin A (parathyroid secretory protein 1)																																				SO:0001651	inframe_deletion	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397924_93397926delGAG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.685_687delGAG	14.37:g.93397933_93397935delGAG	ENSP00000216492:p.Glu236del					CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	p.E236del	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	965_967	+		all_cancers(154;0.0843)	236					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	ENST00000216492.5	37	c.685_687delGAG	CCDS9906.1																																																																																				0.645	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		13	197						13	197	---	---	---	---
SYNE3	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)gagdel	p.E321del	SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	321					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(961-963)del		spectrin repeat containing, nuclear envelope family member 3																																				SO:0001651	inframe_deletion	161176							g.chr14:95921888_95921890delCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.961_963delGAG	14.37:g.95921897_95921899delCTC	ENSP00000334308:p.Glu321del					SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del	p.E321del	NM_152592.3	NP_689805.3					5	975_977	-								A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.961_963delGAG	CCDS9935.1																																																																																				0.616	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		11	848						11	848	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96783571	96783572	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr14:96783571_96783572insT	ENST00000359933.4	-	20	4013_4014	c.3120_3121insA	c.(3118-3123)aaattafs	p.L1041fs		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1041					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGAGAGTCTAATTTTTTTTTCC	0.371																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3118-3123)aatagafs		autophagy related 2B																																				SO:0001589	frameshift_variant	55102							g.chr14:96783571_96783572insT	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3121dupA	14.37:g.96783580_96783580dupT	ENSP00000353010:p.Leu1041fs						p.NR1040fs	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	20	4013_4014	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1040					Q6ZRE7|Q96DQ3|Q9NW80	Frame_Shift_Ins	INS	ENST00000359933.4	37	c.3120_3121insA	CCDS9944.2																																																																																				0.371	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		9	440						9	440	---	---	---	---
YY1	7528	broad.mit.edu	37	14	100705708	100705710	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr14:100705708_100705710delGAG	ENST00000262238.4	+	1	387_389	c.127_129delGAG	c.(127-129)gagdel	p.E47del	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	47	Asp/Glu-rich (acidic).|Interaction with the SMAD1/SMAD4 complex.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|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 coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E43delE(1)		cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				AGTggtgggcgaggaggaggagg	0.719																																						ENST00000262238.4																			1	Deletion - In frame(1)	p.E43delE(1)	prostate(1)	cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11						c.(127-129)del		YY1 transcription factor				381,3745		7,367,1689						1.4	0.5			18	569,7489		8,553,3468	no	coding	YY1	NM_003403.3		15,920,5157	A1A1,A1R,RR		7.0613,9.2341,7.7971				950,11234				SO:0001651	inframe_deletion	7528				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr14:100705708_100705710delGAG	BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"""INO80 complex subunits"", ""Zinc fingers, C2H2-type"""	12856	protein-coding gene	gene with protein product	"""INO80 complex subunit S"", ""Yin and Yang 1 protein"""	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.127_129delGAG	14.37:g.100705717_100705719delGAG	ENSP00000262238:p.Glu47del						p.E47del	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN			1	387_389	+		Melanoma(154;0.152)	47			Asp/Glu-rich (acidic).		Q14935	In_Frame_Del	DEL	ENST00000262238.4	37	c.127_129delGAG	CCDS9957.1																																																																																				0.719	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318277.1	NM_003403		8	69						8	69	---	---	---	---
IGHV3-43	28426	broad.mit.edu	37	14	106926502	106926503	+	RNA	DEL	AC	AC	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr14:106926502_106926503delAC	ENST00000434710.1	-	0	126									immunoglobulin heavy variable 3-43																		ACACCTGCAAACACAGAGACAC	0.52																																						ENST00000434710.1																			0																																																			0							g.chr14:106926502_106926503delAC	M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926504_106926505delAC														0	126	-									RNA	DEL	ENST00000434710.1	37																																																																																						0.520	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325191.1	NG_001019		7	950						7	950	---	---	---	---
GOLGA8DP	100132979	broad.mit.edu	37	15	22709885	22709885	+	RNA	DEL	G	G	-	rs372484877		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr15:22709885delG	ENST00000314246.8	-	0	1069				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											TATCTAATGTGGGGGGGGCTG	0.537																																						ENST00000314246.8																			0																																																			0							g.chr15:22709885delG			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.22709885delG														0	1069	-									RNA	DEL	ENST00000314246.8	37																																																																																						0.537	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		28	132						28	132	---	---	---	---
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-	rs371085676|rs377432895	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(346-348)del		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001651	inframe_deletion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328597_40328599delTGC		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"""signal recognition particle 14kD (homologous Alu RNA-binding protein)"""			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.346_348delGCA	15.37:g.40328606_40328608delTGC	ENSP00000267884:p.Ala116del					SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del	p.A116del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	417_419	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	116			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	ENST00000267884.6	37	c.346_348delGCA	CCDS42017.1																																																																																				0.478	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		20	528						20	528	---	---	---	---
TMOD3	29766	broad.mit.edu	37	15	52161562	52161562	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr15:52161562delA	ENST00000308580.7	+	3	556	c.275delA	c.(274-276)gaafs	p.E92fs	TMOD3_ENST00000544199.1_Frame_Shift_Del_p.E92fs	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	92						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		TACACTGGAGAAAAAAAAGGT	0.388																																					Colon(122;1837 2251 18387 22826)	ENST00000308580.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14						c.(274-276)gafs		tropomodulin 3 (ubiquitous)							79.0	82.0	81.0					15																	52161562		2195	4293	6488	SO:0001589	frameshift_variant	29766					cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52161562delA	AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.275delA	15.37:g.52161562delA	ENSP00000308753:p.Glu92fs					TMOD3_ENST00000544199.1_Frame_Shift_Del_p.E92fs	p.E92fs	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN		all cancers(107;0.00194)	3	556	+			92					B2R6G7|Q9NT43|Q9NZR0	Frame_Shift_Del	DEL	ENST00000308580.7	37	c.275delA	CCDS10145.1																																																																																				0.388	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254740.3			8	571						8	571	---	---	---	---
TCF12	6938	broad.mit.edu	37	15	57489984	57489984	+	Frame_Shift_Del	DEL	A	A	-	rs531495886		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr15:57489984delA	ENST00000267811.5	+	8	844	c.540delA	c.(538-540)gcafs	p.A180fs	TCF12_ENST00000557843.1_Frame_Shift_Del_p.A180fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.A180fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.A180fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.A176fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	180					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)		CCTTGCAAGCAAAAAAAGTCA	0.343			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.(538-540)gcfs		transcription factor 12							144.0	130.0	135.0					15																	57489984		2192	4292	6484	SO:0001589	frameshift_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.chr15:57489984delA	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.540delA	15.37:g.57489984delA	ENSP00000267811:p.Ala180fs					TCF12_ENST00000557843.1_Frame_Shift_Del_p.A180fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.A176fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.A180fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.A180fs	p.A180fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	8	844	+		Colorectal(260;0.0907)	180					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Del	DEL	ENST00000267811.5	37	c.540delA	CCDS10159.1																																																																																				0.343	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		8	663						8	663	---	---	---	---
CGNL1	84952	broad.mit.edu	37	15	57823890	57823890	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr15:57823890delC	ENST00000281282.5	+	14	3282	c.3204delC	c.(3202-3204)gacfs	p.D1068fs	CTD-2515H24.4_ENST00000566990.1_lincRNA	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1068				D -> A (in Ref. 1; AAT37906). {ECO:0000305}.		myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CTTCTTAGGACAAGGTGTCTC	0.448																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(3202-3204)gafs		cingulin-like 1							161.0	160.0	160.0					15																	57823890		2192	4292	6484	SO:0001589	frameshift_variant	84952					myosin complex|tight junction	motor activity	g.chr15:57823890delC	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.3204delC	15.37:g.57823890delC	ENSP00000281282:p.Asp1068fs						p.D1068fs	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	14	3282	+			1068	D -> A (in Ref. 1; AAT37906).				Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Frame_Shift_Del	DEL	ENST00000281282.5	37	c.3204delC	CCDS10161.1																																																																																				0.448	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		190	623						190	623	---	---	---	---
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	lincRNA	DEL	C	C	-	rs376790777|rs57286078|rs534087513|rs552210225	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433																																						ENST00000543286.1																			0																																																			0							g.chr15:93974510delC																													15.37:g.93974510delC														0	545	+									RNA	DEL	ENST00000543286.1	37																																																																																						0.433	RP11-266O8.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415156.1			10	241						10	241	---	---	---	---
ZNF598	90850	broad.mit.edu	37	16	2049882	2049883	+	In_Frame_Ins	INS	-	-	TCC	rs61746014|rs377495742|rs370831505|rs141374045	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:2049882_2049883insTCC	ENST00000563630.1	-	9	1744_1745	c.1502_1503insGGA	c.(1501-1503)gac>gaGGAc	p.500_501insE	ZNF598_ENST00000431526.1_In_Frame_Ins_p.555_556insE|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_In_Frame_Ins_p.500_501insE			Q86UK7	ZN598_HUMAN	zinc finger protein 598	555							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E555_D556insE(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGGGCCGCCGTCCTCCTCCTC	0.703														518	0.103435	0.0061	0.1801	5008	,	,		13556	0.0387		0.1501	False		,,,				2504	0.1994					ENST00000563630.1																			1	Insertion - In frame(1)	p.E555_D556insE(1)	kidney(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(1501-1503)ggg>gGGAgg		zinc finger protein 598																																				SO:0001652	inframe_insertion	90850					intracellular	zinc ion binding	g.chr16:2049882_2049883insTCC	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1500_1502dupGGA	16.37:g.2049889_2049891dupTCC	ENSP00000455882:p.Glu500_Glu500dup					ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR|ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR	p.501_502insR			Q86UK7	ZN598_HUMAN			9	1744_1745	-			556					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	In_Frame_Ins	INS	ENST00000563630.1	37	c.1502_1503insGGA																																																																																					0.703	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		16	21						16	21	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		15	1431						15	1431	---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24921737	24921739	+	In_Frame_Del	DEL	CAG	CAG	-	rs140499762		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:24921737_24921739delCAG	ENST00000347898.3	+	15	2383_2385	c.1761_1763delCAG	c.(1759-1764)gccagc>gcc	p.S592del	SLC5A11_ENST00000567758.1_In_Frame_Del_p.S557del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.S557del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.S522del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.S522del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.S436del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.S528del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.S436del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.S528del	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGCCAGAGGCCAGCAGCAGCAGC	0.542																																						ENST00000347898.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.(1759-1764)gcc>gc		solute carrier family 5 (sodium/inositol cotransporter), member 11				0,59,4205		0,0,0,0,59,2073						2.3	0.0		dbSNP_134	91	12,151,8089		0,0,12,0,151,3963	no	codingComplex	SLC5A11	NM_052944.2		0,0,12,0,210,6036	A1A1,A1A2,A1R,A2A2,A2R,RR		1.9753,1.3837,1.7737				12,210,12294				SO:0001651	inframe_deletion	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24921737_24921739delCAG	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1761_1763delCAG	16.37:g.24921746_24921748delCAG	ENSP00000289932:p.Ser592del					SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del	p.AS587del	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	15	2383_2385	+			587						In_Frame_Del	DEL	ENST00000347898.3	37	c.1761_1763delCAG	CCDS10625.1																																																																																				0.542	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		10	419						10	419	---	---	---	---
IL4R	3566	broad.mit.edu	37	16	27373787	27373789	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:27373787_27373789delGAG	ENST00000395762.2	+	11	1373_1375	c.1114_1116delGAG	c.(1114-1116)gagdel	p.E376del	IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del|IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	376	Poly-Glu.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGTGGAGTGTGAGGAGGAGGAGG	0.591																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1114-1116)del		interleukin 4 receptor																																				SO:0001651	inframe_deletion	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27373787_27373789delGAG	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1114_1116delGAG	16.37:g.27373796_27373798delGAG	ENSP00000379111:p.Glu376del					IL4R_ENST00000543915.2_In_Frame_Del_p.E376del|IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del	p.E376del	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			11	1373_1375	+			376			Poly-Glu.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	In_Frame_Del	DEL	ENST00000395762.2	37	c.1114_1116delGAG	CCDS10629.1																																																																																				0.591	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			8	327						8	327	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-	rs368747234		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)gagdel	p.E392del	TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1138-1140)del		TAO kinase 2																																				SO:0001651	inframe_deletion	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994531_29994533delGAG	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1138_1140delGAG	16.37:g.29994540_29994542delGAG	ENSP00000310094:p.Glu392del					TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del	p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			12	2181_2183	+			392			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.1138_1140delGAG	CCDS10663.1																																																																																				0.611	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		16	365						16	365	---	---	---	---
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-	rs202017154		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)gatggg>ggg	p.D57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.D57del|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532																																						ENST00000305596.3																			0				breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(169-174)ggg>g		CD2 (cytoplasmic tail) binding protein 2																																				SO:0001651	inframe_deletion	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30365550_30365552delCAT	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.170_172delATG	16.37:g.30365559_30365561delCAT	ENSP00000304903:p.Asp57del					CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del	p.DG57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN			3	345_347	-			57					B2RDX2|Q9ULP2	In_Frame_Del	DEL	ENST00000305596.3	37	c.170_172delATG	CCDS10675.1																																																																																				0.532	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		14	1815						14	1815	---	---	---	---
SEPT1	1731	broad.mit.edu	37	16	30389182	30389182	+	IGR	DEL	C	C	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:30389182delC	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Frame_Shift_Del_p.C157fs			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			AAAACATCTGCTACGTCATCA	0.672																																						ENST00000322861.7																			0				large_intestine(2)|lung(4)	6						c.(469-471)tgfs		myosin light chain, phosphorylatable, fast skeletal muscle							55.0	55.0	55.0					16																	30389182		2197	4300	6497	SO:0001628	intergenic_variant	29895				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr16:30389182delC	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30389182delC							p.C157fs	NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	Colorectal(24;0.193)		7	552	+			157			EF-hand 3.		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Frame_Shift_Del	DEL	ENST00000571393.1	37	c.471delC																																																																																					0.672	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		52	350						52	350	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-	rs531337171|rs569719496	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(3127-3129)del		SET domain containing 1A																																				SO:0001651	inframe_deletion	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30982809_30982811delTCC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3127_3129delTCC	16.37:g.30982818_30982820delTCC	ENSP00000262519:p.Ser1058del						p.S1058del	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			13	3813_3815	+			1058			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	In_Frame_Del	DEL	ENST00000262519.8	37	c.3127_3129delTCC	CCDS32435.1																																																																																				0.547	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		8	510						8	510	---	---	---	---
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:55362674_55362676delGAG	ENST00000290552.7	+	5	2116_2118	c.784_786delGAG	c.(784-786)gagdel	p.E268del	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	268					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(784-786)del		iroquois homeobox 6																																				SO:0001651	inframe_deletion	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362674_55362676delGAG	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.784_786delGAG	16.37:g.55362683_55362685delGAG	ENSP00000290552:p.Glu268del					RP11-26L20.3_ENST00000558730.2_RNA	p.E268del	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2116_2118	+			268					B2RN06|Q7Z2K0	In_Frame_Del	DEL	ENST00000290552.7	37	c.784_786delGAG	CCDS32449.1																																																																																				0.626	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		12	434						12	434	---	---	---	---
RANBP10	57610	broad.mit.edu	37	16	67763279	67763281	+	In_Frame_Del	DEL	GAG	GAG	-	rs141826437	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:67763279_67763281delGAG	ENST00000317506.3	-	10	1369_1371	c.1254_1256delCTC	c.(1252-1257)tcctcg>tcg	p.418_419SS>S	RANBP10_ENST00000448631.2_In_Frame_Del_p.362_363SS>S|RANBP10_ENST00000411657.2_In_Frame_Del_p.301_302SS>S|RANBP10_ENST00000602677.1_In_Frame_Del_p.418_419SS>S|RANBP10_ENST00000536251.1_In_Frame_Del_p.189_190SS>S	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	418	Ser-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.S418S(2)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ggaagaggacgaggaggaggagg	0.567																																						ENST00000317506.3																			2	Substitution - coding silent(2)	p.S418S(2)	endometrium(2)	endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(1252-1257)tcg>tc		RAN binding protein 10																																				SO:0001651	inframe_deletion	57610							g.chr16:67763279_67763281delGAG	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1254_1256delCTC	16.37:g.67763288_67763290delGAG	ENSP00000316589:p.Ser422del					RANBP10_ENST00000448631.2_In_Frame_Del_p.SS364del|RANBP10_ENST00000536251.1_In_Frame_Del_p.SS191del|RANBP10_ENST00000411657.2_In_Frame_Del_p.SS303del|RANBP10_ENST00000602677.1_In_Frame_Del_p.SS420del	p.SS420del	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	10	1369_1371	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	420			Ser-rich.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	In_Frame_Del	DEL	ENST00000317506.3	37	c.1254_1256delCTC	CCDS32469.1																																																																																				0.567	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		7	227						7	227	---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		14	487						14	487	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77356311	77356311	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:77356311delA	ENST00000282849.5	-	14	2503	c.2085delT	c.(2083-2085)tttfs	p.F695fs		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	695	Cys-rich.				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)	p.A696fs*18(2)		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						CGGACATTGCAAAAAAAAATT	0.403																																						ENST00000282849.5																			2	Insertion - Frameshift(2)	p.A696fs*18(2)	large_intestine(2)	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.(2083-2085)ttfs		ADAM metallopeptidase with thrombospondin type 1 motif, 18							145.0	143.0	143.0					16																	77356311		2198	4300	6498	SO:0001589	frameshift_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77356311delA	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.2085delT	16.37:g.77356311delA	ENSP00000282849:p.Phe695fs						p.F695fs	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			14	2503	-			695			Cys-rich.		Q6P4R5|Q6ZWJ9	Frame_Shift_Del	DEL	ENST00000282849.5	37	c.2085delT	CCDS10926.1																																																																																				0.403	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			10	616						10	616	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7751859	7751861	+	In_Frame_Del	DEL	CAC	CAC	-	rs59627144|rs377654044	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:7751859_7751861delCAC	ENST00000448097.2	+	11	2584_2586	c.2253_2255delCAC	c.(2251-2256)gtcacc>gtc	p.T762del	KDM6B_ENST00000254846.5_In_Frame_Del_p.T762del			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	762	Pro-rich.|Thr-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGTCGCCGTcaccaccaccacc	0.65																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(2251-2256)gtc>gt		lysine (K)-specific demethylase 6B																																				SO:0001651	inframe_deletion	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7751859_7751861delCAC	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2253_2255delCAC	17.37:g.7751868_7751870delCAC	ENSP00000412513:p.Thr762del					KDM6B_ENST00000448097.2_In_Frame_Del_p.VT751del	p.VT751del	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	2642_2644	+			751			Pro-rich.|Thr-rich.		C9IZ40|Q96G33	In_Frame_Del	DEL	ENST00000448097.2	37	c.2253_2255delCAC																																																																																					0.650	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		8	168						8	168	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12647692	12647694	+	In_Frame_Del	DEL	CAG	CAG	-	rs536181176	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:12647692_12647694delCAG	ENST00000343344.4	+	8	910_912	c.910_912delCAG	c.(910-912)cagdel	p.Q310del	MYOCD_ENST00000425538.1_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_In_Frame_Del_p.Q214del			Q8IZQ8	MYCD_HUMAN	myocardin	310	Gln-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCCTCAGCcagcagcagcagc	0.596														27	0.00539137	0.0098	0.0029	5008	,	,		19180	0.001		0.001	False		,,,				2504	0.0102					ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(910-912)del		myocardin			,,	189,4075		0,189,1943					,,	3.1	1.0			38	472,7780		2,468,3656	no	coding,coding,coding	MYOCD	NM_153604.2,NM_001146313.1,NM_001146312.1	,,	2,657,5599	A1A1,A1R,RR		5.7198,4.4325,5.2812	,,	,,		661,11855				SO:0001651	inframe_deletion	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12647692_12647694delCAG	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.910_912delCAG	17.37:g.12647701_12647703delCAG	ENSP00000341835:p.Gln310del					MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del	p.Q310del	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	8	1110_1112	+			310			Gln-rich.		Q5UBU5|Q8N7Q1	In_Frame_Del	DEL	ENST00000343344.4	37	c.910_912delCAG	CCDS11163.1																																																																																				0.596	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		11	197						11	197	---	---	---	---
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581																																						ENST00000268711.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(337-339)del		mediator complex subunit 9																																				SO:0001651	inframe_deletion	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394705_17394707delCAG	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"""mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"""			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.337_339delCAG	17.37:g.17394714_17394716delCAG	ENSP00000268711:p.Gln117del						p.Q117del	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			2	393_395	+			117						In_Frame_Del	DEL	ENST00000268711.3	37	c.337_339delCAG	CCDS11184.1																																																																																				0.581	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		7	554						7	554	---	---	---	---
SUZ12P1	440423	broad.mit.edu	37	17	29096087	29096087	+	RNA	DEL	T	T	-	rs199852971		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:29096087delT	ENST00000582557.1	+	0	1381																											ATATTGGTAATTTTTTTTTTT	0.343																																						ENST00000582557.1																			0																																																			0							g.chr17:29096087delT																													17.37:g.29096087delT														0	1381	+									RNA	DEL	ENST00000582557.1	37																																																																																						0.343	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			8	148						8	148	---	---	---	---
SLFN12	55106	broad.mit.edu	37	17	33749493	33749493	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:33749493delA	ENST00000394562.1	-	4	1078	c.555delT	c.(553-555)tttfs	p.F185fs	SLFN12_ENST00000460530.1_5'Flank|SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs			Q8IYM2	SLN12_HUMAN	schlafen family member 12	185							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGTTCTATCAAAAAAAACCC	0.368																																						ENST00000394562.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(553-555)ttfs		schlafen family member 12							55.0	59.0	58.0					17																	33749493		2183	4295	6478	SO:0001589	frameshift_variant	55106						ATP binding	g.chr17:33749493delA	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.555delT	17.37:g.33749493delA	ENSP00000378063:p.Phe185fs					SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs	p.F185fs			Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	1078	-		Ovarian(249;0.17)	185					A8K711|Q9NP47	Frame_Shift_Del	DEL	ENST00000394562.1	37	c.555delT	CCDS11295.1																																																																																				0.368	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		11	701						11	701	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34074257	34074257	+	Frame_Shift_Del	DEL	G	G	-	rs139867246	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:34074257delG	ENST00000254466.6	-	5	890	c.863delC	c.(862-864)ccgfs	p.P288fs	GAS2L2_ENST00000587565.1_Frame_Shift_Del_p.P272fs	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	288					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGTGGGGCCGGGGGCTTCAG	0.597																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(862-864)cgfs		growth arrest-specific 2 like 2							135.0	144.0	141.0					17																	34074257		2203	4300	6503	SO:0001589	frameshift_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34074257delG	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.863delC	17.37:g.34074257delG	ENSP00000254466:p.Pro288fs					GAS2L2_ENST00000587565.1_Frame_Shift_Del_p.P272fs	p.P288fs	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	890	-		Ovarian(249;0.17)	288					Q8NHY4	Frame_Shift_Del	DEL	ENST00000254466.6	37	c.863delC	CCDS11298.1																																																																																				0.597	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		7	1538						7	1538	---	---	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																						ENST00000398472.1																			4	Deletion - In frame(4)	p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)	upper_aerodigestive_tract(2)|prostate(2)	kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(253-312)cgt>cg		keratin associated protein 4-1																																				SO:0001651	inframe_deletion	85285					keratin filament		g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del						p.RPLCCQTTCHPSCGMSSCCR85del			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	742_798	-		Breast(137;0.000496)	85		Missing (in allele KAP4.10).	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	In_Frame_Del	DEL	ENST00000398472.1	37	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		11	399						11	399	---	---	---	---
RP11-156P1.3	0	broad.mit.edu	37	17	45128628	45128629	+	RNA	INS	-	-	T	rs532483899	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:45128628_45128629insT	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							ATTCTGGTGTGtttttttttgt	0.337																																						ENST00000575173.1																			0																																																			0							g.chr17:45128628_45128629insT																													17.37:g.45128637_45128637dupT														0	418	-									RNA	INS	ENST00000575173.1	37																																																																																						0.337	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			9	424						9	424	---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49157025	49157025	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:49157025delT	ENST00000262013.7	-	2	552	c.344delA	c.(343-345)aagfs	p.K115fs	SPAG9_ENST00000505279.1_Frame_Shift_Del_p.K115fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.K115fs|RP11-481C4.1_ENST00000509833.1_RNA	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	115					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTGTAAGTCCTTTTTTTCCTG	0.313																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(343-345)agfs		sperm associated antigen 9							133.0	131.0	132.0					17																	49157025		2203	4299	6502	SO:0001589	frameshift_variant	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49157025delT	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.344delA	17.37:g.49157025delT	ENSP00000262013:p.Lys115fs					SPAG9_ENST00000357122.4_Frame_Shift_Del_p.K115fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.K115fs|RP11-481C4.1_ENST00000509833.1_RNA	p.K115fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		2	552	-			115					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Frame_Shift_Del	DEL	ENST00000262013.7	37	c.344delA	CCDS45740.1																																																																																				0.313	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		7	739						7	739	---	---	---	---
LMAN1	3998	broad.mit.edu	37	18	57013194	57013194	+	Frame_Shift_Del	DEL	T	T	-	rs553350987		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr18:57013194delT	ENST00000251047.5	-	8	1629	c.912delA	c.(910-912)aaafs	p.K304fs	LMAN1_ENST00000587940.1_5'Flank	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	304					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GGAATTCCTCTTTTTTTTTAT	0.453																																						ENST00000251047.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(910-912)aafs		lectin, mannose-binding, 1	Antihemophilic Factor(DB00025)						138.0	139.0	139.0					18																	57013194		2203	4300	6503	SO:0001589	frameshift_variant	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57013194delT	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.912delA	18.37:g.57013194delT	ENSP00000251047:p.Lys304fs						p.K304fs	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN			8	1629	-		Colorectal(73;0.0946)	304					Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Frame_Shift_Del	DEL	ENST00000251047.5	37	c.912delA	CCDS11974.1																																																																																				0.453	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		13	579						13	579	---	---	---	---
MBD3	53615	broad.mit.edu	37	19	1578372	1578374	+	In_Frame_Del	DEL	CTC	CTC	-	rs371220154		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:1578372_1578374delCTC	ENST00000434436.3	-	6	970_972	c.841_843delGAG	c.(841-843)gagdel	p.E281del	UQCR11_ENST00000585937.1_3'UTR|AC005943.5_ENST00000588960.1_lincRNA|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000590550.2_In_Frame_Del_p.E225del	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	281	Poly-Glu.				ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGTCGGGctcctcctcctcc	0.714																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(673-675)del		methyl-CpG binding domain protein 3				2,177,4065		0,0,2,3,171,1946						4.1	0.9			25	7,249,7984		0,0,7,1,247,3865	no	codingComplex	MBD3	NM_003926.5		0,0,9,4,418,5811	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1068,4.2177,3.4845				9,426,12049				SO:0001651	inframe_deletion	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1578372_1578374delCTC	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.841_843delGAG	19.37:g.1578381_1578383delCTC	ENSP00000412302:p.Glu281del					MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del	p.E225del			O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1046_1048	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	281					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	In_Frame_Del	DEL	ENST00000434436.3	37	c.673_675delGAG	CCDS12072.1																																																																																				0.714	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		7	177						7	177	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13397337	13397338	+	Frame_Shift_Ins	INS	-	-	G	rs556266465		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:13397337_13397338insG	ENST00000360228.5	-	20	3531_3532	c.3532_3533insC	c.(3532-3534)ctcfs	p.L1178fs	CACNA1A_ENST00000573710.2_Frame_Shift_Ins_p.L1179fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1179					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGTGTGGTTGAGGGGGGGTGGG	0.629																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(3532-3534)caafs		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)																																			SO:0001589	frameshift_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13397337_13397338insG	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3533dupC	19.37:g.13397344_13397344dupG	ENSP00000353362:p.Leu1178fs					CACNA1A_ENST00000573710.2_Frame_Shift_Ins_p.Q1179fs	p.Q1178fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		20	3531_3532	-			1179					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Frame_Shift_Ins	INS	ENST00000360228.5	37	c.3532_3533insC	CCDS45998.1																																																																																				0.629	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		30	58						30	58	---	---	---	---
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:16640581_16640583delTGC	ENST00000198939.6	-	8	1074_1076	c.1038_1040delGCA	c.(1036-1041)cagcaa>caa	p.346_347QQ>Q	CHERP_ENST00000546361.2_In_Frame_Del_p.335_336QQ>Q|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.67																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1003-1008)caa>ca		calcium homeostasis endoplasmic reticulum protein																																				SO:0001651	inframe_deletion	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640581_16640583delTGC	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1038_1040delGCA	19.37:g.16640590_16640592delTGC	ENSP00000198939:p.Gln352del					CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del|CTD-3222D19.2_ENST00000409035.1_Intron	p.QQ339del	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			8	1156_1158	-			339			Gln-rich.			In_Frame_Del	DEL	ENST00000198939.6	37	c.1005_1007delGCA																																																																																					0.670	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		8	141						8	141	---	---	---	---
CTC-260E6.6	0	broad.mit.edu	37	19	20359846	20359847	+	RNA	DEL	GT	GT	-	rs142545494|rs549678051		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:20359846_20359847delGT	ENST00000593655.1	-	0	199																											TTAAGTAAAGGTGTGTGTGTGT	0.421																																						ENST00000593655.1																			0																																																			0							g.chr19:20359846_20359847delGT																													19.37:g.20359856_20359857delGT														0	199	-									RNA	DEL	ENST00000593655.1	37																																																																																						0.421	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			8	408						8	408	---	---	---	---
LSM14A	26065	broad.mit.edu	37	19	34710340	34710340	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:34710340delC	ENST00000433627.5	+	7	901	c.826delC	c.(826-828)cggfs	p.R276fs	LSM14A_ENST00000540746.2_Frame_Shift_Del_p.R235fs|LSM14A_ENST00000544216.3_Frame_Shift_Del_p.R276fs	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	276					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TGGGGGTCATCGGGGTGGCAG	0.438																																						ENST00000544216.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(826-828)ggfs		LSM14A, SCD6 homolog A (S. cerevisiae)							75.0	85.0	82.0					19																	34710340		2203	4300	6503	SO:0001589	frameshift_variant	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34710340delC	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.826delC	19.37:g.34710340delC	ENSP00000413964:p.Arg276fs					LSM14A_ENST00000433627.5_Frame_Shift_Del_p.R276fs|LSM14A_ENST00000540746.2_Frame_Shift_Del_p.R235fs	p.R276fs	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			7	903	+	Esophageal squamous(110;0.162)		276					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Frame_Shift_Del	DEL	ENST00000433627.5	37	c.826delC	CCDS46040.1																																																																																				0.438	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		9	796						9	796	---	---	---	---
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:35940788_35940790delCTG	ENST00000599180.2	+	2	252_254	c.172_174delCTG	c.(172-174)ctgdel	p.L62del	FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645																																					GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(172-174)del		free fatty acid receptor 2																																				SO:0001651	inframe_deletion	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940788_35940790delCTG	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.172_174delCTG	19.37:g.35940797_35940799delCTG	ENSP00000473159:p.Leu62del					FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del	p.L62del			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	252_254	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		62					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	In_Frame_Del	DEL	ENST00000599180.2	37	c.172_174delCTG	CCDS12461.1																																																																																				0.645	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		7	281						7	281	---	---	---	---
PROSER3	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-	rs370252048		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2.0	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			12	1254						12	1254	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-	rs199960550		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.680	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		7	728						7	728	---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45381749	45381751	+	Intron	DEL	GAG	GAG	-	rs558397688	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:45381749_45381751delGAG	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_In_Frame_Del_p.E445del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGCAaggatgaggaggaggagg	0.591														41	0.0081869	0.0197	0.0014	5008	,	,		15541	0.003		0.003	False		,,,				2504	0.0082					ENST00000252485.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1312-1314)del		poliovirus receptor-related 2 (herpesvirus entry mediator B)			,	121,4143		6,109,2017					,	-4.6	0.1			51	244,8010		12,220,3895	no	coding,intron	PVRL2	NM_002856.2,NM_001042724.1	,	18,329,5912	A1A1,A1R,RR		2.9561,2.8377,2.9158	,	,		365,12153				SO:0001627	intron_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45381749_45381751delGAG	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3717GAG>-	19.37:g.45381758_45381760delGAG						PVRL2_ENST00000252483.5_Intron	p.E445del	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	6	1663_1665	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	504					A8K5L5|O75455|Q6IBI6|Q96J29	In_Frame_Del	DEL	ENST00000252483.5	37	c.1312_1314delGAG	CCDS42576.1																																																																																				0.591	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		7	151						7	151	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328|rs557359374	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)gagggc>ggc	p.E705del	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.E441del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2113-2118)ggc>g		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299165_46299167delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2114_2116delAGG	19.37:g.46299174_46299176delCCT	ENSP00000221538:p.Glu705del					RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del|RSPH6A_ENST00000597055.1_3'UTR	p.EG705del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2256_2258	-			705			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2114_2116delAGG	CCDS12675.1																																																																																				0.586	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			16	915						16	915	---	---	---	---
FLT3LG	2323	broad.mit.edu	37	19	49978960	49978962	+	In_Frame_Del	DEL	CTG	CTG	-	rs372504451		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:49978960_49978962delCTG	ENST00000594009.1	+	2	125_127	c.46_48delCTG	c.(46-48)ctgdel	p.L20del	FLT3LG_ENST00000595510.1_5'UTR|CTD-3148I10.15_ENST00000595815.1_RNA|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	20					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTATCTCCTCCTGCTGCTGCTGC	0.621																																						ENST00000594009.1																			0				large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(46-48)del		fms-related tyrosine kinase 3 ligand																																				SO:0001651	inframe_deletion	0				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49978960_49978962delCTG	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.46_48delCTG	19.37:g.49978969_49978971delCTG	ENSP00000469613:p.Leu20del					FLT3LG_ENST00000204637.2_5'UTR|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del	p.L20del	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	2	125_127	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	20					A0AVC2|B9EGH2|Q05C96	In_Frame_Del	DEL	ENST00000594009.1	37	c.46_48delCTG	CCDS12767.1																																																																																				0.621	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1			10	473						10	473	---	---	---	---
SIGLEC16	400709	broad.mit.edu	37	19	50474857	50474861	+	RNA	DEL	GACGC	GACGC	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:50474857_50474861delGACGC	ENST00000602139.1	+	0	998							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						CAGTCTCCAGGACGCTTCCCTTTGC	0.566																																						ENST00000602139.1																			0				endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50474857_50474861delGACGC	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50474857_50474861delGACGC														0	998	+									RNA	DEL	ENST00000602139.1	37																																																																																						0.566	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		19	466						19	466	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0.0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			15	647						15	647	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-	rs543059448	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)				8	0.00159744	0.0023	0.0014	5008	,	,		18237	0.002		0.001	False		,,,				2504	0.001					ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1417-1419)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1			,,,	21,4241		0,21,2110					,,,	0.7	0.0			137	49,8205		0,49,4078	no	coding,coding,coding,coding	LILRB1	NM_006669.3,NM_001081639.1,NM_001081638.1,NM_001081637.1	,,,	0,70,6188	A1A1,A1R,RR		0.5937,0.4927,0.5593	,,,	,,,		70,12446				SO:0001651	inframe_deletion	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146148_55146150delCTC	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1417_1419delCTC	19.37:g.55146157_55146159delCTC	ENSP00000379622:p.Leu479del	HNSCC(37;0.09)				LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del	p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	11	1774_1776	+			479					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	In_Frame_Del	DEL	ENST00000396331.1	37	c.1417_1419delCTC	CCDS42617.1																																																																																				0.581	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			16	619						16	619	---	---	---	---
ZNF787	126208	broad.mit.edu	37	19	56599438	56599440	+	In_Frame_Del	DEL	TCG	TCG	-	rs5828672|rs71696054	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:56599438_56599440delTCG	ENST00000270459.3	-	3	1219_1221	c.1101_1103delCGA	c.(1099-1104)gacgag>gag	p.D367del		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	367					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(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GCCCGCGGCCTCGTCGTCGTCGT	0.778														4509	0.900359	0.9939	0.732	5008	,	,		3238	0.7252		0.9821	False		,,,				2504	0.9898					ENST00000270459.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						c.(1099-1104)gag>ga		zinc finger protein 787																																				SO:0001651	inframe_deletion	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56599438_56599440delTCG	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.1101_1103delCGA	19.37:g.56599447_56599449delTCG	ENSP00000270459:p.Asp367del						p.DE367del	NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	3	1219_1221	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	366					O00455	In_Frame_Del	DEL	ENST00000270459.3	37	c.1101_1103delCGA	CCDS42634.1																																																																																				0.778	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		20	61						20	61	---	---	---	---
ZNF416	55659	broad.mit.edu	37	19	58084579	58084579	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:58084579delA	ENST00000196489.3	-	4	915	c.693delT	c.(691-693)tttfs	p.F231fs		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	231					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)		CTCTAGGGTGAAAAAAAGTGT	0.453																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(691-693)ttfs		zinc finger protein 416							161.0	161.0	161.0					19																	58084579		2203	4300	6503	SO:0001589	frameshift_variant	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084579delA	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.693delT	19.37:g.58084579delA	ENSP00000196489:p.Phe231fs						p.F231fs	NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	915	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	231					Q9NWW8	Frame_Shift_Del	DEL	ENST00000196489.3	37	c.693delT	CCDS12954.1																																																																																				0.453	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		10	2160						10	2160	---	---	---	---
ZNF552	79818	broad.mit.edu	37	19	58320004	58320004	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:58320004delT	ENST00000391701.1	-	3	797	c.628delA	c.(628-630)agcfs	p.S210fs	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	210					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)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTGTAATGGCTTTTTCCCCCA	0.468																																						ENST00000391701.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(628-630)gcfs		zinc finger protein 552							130.0	113.0	119.0					19																	58320004		2203	4300	6503	SO:0001589	frameshift_variant	79818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58320004delT	AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"""Zinc fingers, C2H2-type"", ""-"""	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.628delA	19.37:g.58320004delT	ENSP00000375582:p.Ser210fs					ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	p.S210fs	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	3	797	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	210					B3KUE9|Q6P5A6	Frame_Shift_Del	DEL	ENST00000391701.1	37	c.628delA	CCDS12963.1																																																																																				0.468	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762		7	858						7	858	---	---	---	---
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	GAG	-	rs547594353	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr20:23345921_23345923delGAG	ENST00000338121.5	+	2	978_980	c.901_903delGAG	c.(901-903)gagdel	p.E306del	GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	306					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(901-903)del		GDNF-inducible zinc finger protein 1				7,68,4189		0,0,7,1,66,2058						-8.0	0.0			52	1,62,8191		0,0,1,3,56,4067	no	codingComplex	GZF1	NM_022482.3		0,0,8,4,122,6125	A1A1,A1A2,A1R,A2A2,A2R,RR		0.7633,1.7589,1.1024				8,130,12380				SO:0001651	inframe_deletion	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345921_23345923delGAG	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.901_903delGAG	20.37:g.23345930_23345932delGAG	ENSP00000338290:p.Glu306del					GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del	p.E306del			Q9H116	GZF1_HUMAN			2	978_980	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		306					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	In_Frame_Del	DEL	ENST00000338121.5	37	c.901_903delGAG	CCDS13151.1																																																																																				0.532	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		9	494						9	494	---	---	---	---
NCOR1P1	149934	broad.mit.edu	37	20	26084428	26084428	+	RNA	DEL	C	C	-	rs371146435		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr20:26084428delC	ENST00000478176.1	-	0	150					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1																		TCTAATGAAACCTTTAGTAGT	0.313																																						ENST00000478176.1																			0																																																			0							g.chr20:26084428delC	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084428delC								NR_003678.1						0	150	-								A2RUA0	RNA	DEL	ENST00000478176.1	37																																																																																						0.313	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			13	83						13	83	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29628310	29628312	+	In_Frame_Del	DEL	AGG	AGG	-	rs111939959		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr20:29628310_29628312delAGG	ENST00000278882.3	+	6	692_694	c.312_314delAGG	c.(310-315)gcagga>gca	p.G105del	FRG1B_ENST00000439954.2_In_Frame_Del_p.G110del|FRG1B_ENST00000358464.4_In_Frame_Del_p.G105del			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	105										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTAAAACAGCAGGAGAAGAAGAA	0.355																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(310-315)gca>gc																																						SO:0001651	inframe_deletion	0							g.chr20:29628310_29628312delAGG			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.312_314delAGG	20.37:g.29628310_29628312delAGG	ENSP00000278882:p.Gly105del					FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del|FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del	p.AG104del							6	692_694	+								C4AME5	In_Frame_Del	DEL	ENST00000278882.3	37	c.312_314delAGG																																																																																					0.355	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	573						7	573	---	---	---	---
KIF3B	9371	broad.mit.edu	37	20	30898763	30898765	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr20:30898763_30898765delGAG	ENST00000375712.3	+	2	1350_1352	c.1183_1185delGAG	c.(1183-1185)gagdel	p.E399del	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	399	Poly-Glu.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGTGGggaagaggaggaggagg	0.571																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1183-1185)del		kinesin family member 3B				60,4204		6,48,2078						2.7	1.0			52	101,8153		6,89,4032	no	coding	KIF3B	NM_004798.3		12,137,6110	A1A1,A1R,RR		1.2236,1.4071,1.2861				161,12357				SO:0001651	inframe_deletion	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898763_30898765delGAG	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1183_1185delGAG	20.37:g.30898772_30898774delGAG	ENSP00000364864:p.Glu399del					KIF3B_ENST00000418717.2_Intron	p.E399del	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	1350_1352	+			399			Poly-Glu.		B2RMP4|B4DSR5|E1P5M5	In_Frame_Del	DEL	ENST00000375712.3	37	c.1183_1185delGAG	CCDS13200.1																																																																																				0.571	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		9	257						9	257	---	---	---	---
ZHX3	23051	broad.mit.edu	37	20	39832962	39832962	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr20:39832962delT	ENST00000309060.3	-	4	1010	c.595delA	c.(595-597)attfs	p.I199fs	ZHX3_ENST00000558993.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000557816.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.I199fs			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	199					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGTGTATGAATTTTTTTGGCT	0.488																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(595-597)ttfs		zinc fingers and homeoboxes 3							108.0	106.0	107.0					20																	39832962		2203	4300	6503	SO:0001589	frameshift_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832962delT	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.595delA	20.37:g.39832962delT	ENSP00000312222:p.Ile199fs					ZHX3_ENST00000540170.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000558993.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000557816.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.I199fs	p.I199fs			Q9H4I2	ZHX3_HUMAN			4	1010	-		Myeloproliferative disorder(115;0.00425)	199					E1P5W5|F5H820|O43145|Q6NUJ7	Frame_Shift_Del	DEL	ENST00000309060.3	37	c.595delA	CCDS13315.1																																																																																				0.488	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		9	725						9	725	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20918817	20918819	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:20918817_20918819delCAG	ENST00000263205.7	+	6	601_603	c.532_534delCAG	c.(532-534)cagdel	p.Q188del	MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	188	Poly-Gln.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ggcggcgctacagcagcagcagc	0.626											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(532-534)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918817_20918819delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.532_534delCAG	22.37:g.20918826_20918828delCAG	ENSP00000263205:p.Gln188del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del	p.Q188del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	601_603	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	188			Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.532_534delCAG	CCDS33602.1																																																																																				0.626	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		10	188						10	188	---	---	---	---
ZNRF3	84133	broad.mit.edu	37	22	29445819	29445821	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:29445819_29445821delCAG	ENST00000544604.2	+	8	1825_1827	c.1650_1652delCAG	c.(1648-1653)gacagc>gac	p.S557del	ZNRF3_ENST00000402174.1_In_Frame_Del_p.S457del|ZNRF3_ENST00000332811.4_In_Frame_Del_p.S457del|ZNRF3_ENST00000406323.3_In_Frame_Del_p.S457del	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	557					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CAGgcagcgacagcagcagcagc	0.66																																						ENST00000544604.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1648-1653)gac>ga		zinc and ring finger 3			,	78,3554		2,74,1740					,	5.4	1.0			16	199,7043		14,171,3436	no	coding,coding	ZNRF3	NM_032173.3,NM_001206998.1	,	16,245,5176	A1A1,A1R,RR		2.7479,2.1476,2.5474	,	,		277,10597				SO:0001651	inframe_deletion	84133					integral to membrane	zinc ion binding	g.chr22:29445819_29445821delCAG	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1650_1652delCAG	22.37:g.29445828_29445830delCAG	ENSP00000443824:p.Ser557del					ZNRF3_ENST00000402174.1_In_Frame_Del_p.DS450del|ZNRF3_ENST00000406323.3_In_Frame_Del_p.DS450del|ZNRF3_ENST00000332811.4_In_Frame_Del_p.DS450del	p.DS550del	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			8	1825_1827	+			550					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	In_Frame_Del	DEL	ENST00000544604.2	37	c.1650_1652delCAG	CCDS56225.1																																																																																				0.660	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		10	290						10	290	---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:30742328_30742330delCTG	ENST00000215793.8	-	3	518_520	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606																																						ENST00000215793.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(364-366)del		splicing factor 3a, subunit 1, 120kDa																																				SO:0001651	inframe_deletion	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30742328_30742330delCTG	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.364_366delCAG	22.37:g.30742337_30742339delCTG	ENSP00000215793:p.Gln122del					SF3A1_ENST00000439242.1_Intron	p.Q122del	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN			3	518_520	-			122			Poly-Gln.		E9PAW1	In_Frame_Del	DEL	ENST00000215793.8	37	c.364_366delCAG	CCDS13875.1																																																																																				0.606	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		9	694						9	694	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)gagdel	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2785-2787)del		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696948_36696950delCTC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2785_2787delGAG	22.37:g.36696957_36696959delCTC	ENSP00000216181:p.Glu929del						p.E929del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			22	3015_3017	-			929					A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.2785_2787delGAG	CCDS13927.1																																																																																				0.665	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		13	737						13	737	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38119882	38119884	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:38119882_38119884delCCT	ENST00000406386.3	+	7	1574_1576	c.1319_1321delCCT	c.(1318-1323)gcctcc>gcc	p.S442del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	442					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)			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)					AATCCCAGAGCCTCCTCTCCCAG	0.601																																						ENST00000406386.3																			0				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.(1318-1323)gcc>g		TRIO and F-actin binding protein				8,3622		3,2,1810						-5.6	0.0			78	10,7846		3,4,3921	no	coding	TRIOBP	NM_001039141.2		6,6,5731	A1A1,A1R,RR		0.1273,0.2204,0.1567				18,11468				SO:0001651	inframe_deletion	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.chr22:38119882_38119884delCCT	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.1319_1321delCCT	22.37:g.38119885_38119887delCCT	ENSP00000384312:p.Ser442del					RP1-37E16.12_ENST00000455236.1_RNA	p.AS440del	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1574_1576	+	Melanoma(58;0.0574)		440					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	c.1319_1321delCCT	CCDS43015.1																																																																																				0.601	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			11	624						11	624	---	---	---	---
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	TCC	-	rs556869373		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:41650469_41650471delTCC	ENST00000455915.2	-	10	2570_2572	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	RANGAP1_ENST00000356244.3_In_Frame_Del_p.367_368EE>E|RANGAP1_ENST00000407260.4_In_Frame_Del_p.312_313EE>E|RANGAP1_ENST00000405486.1_In_Frame_Del_p.367_368EE>E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	367	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1099-1104)gaa>ga		Ran GTPase activating protein 1																																				SO:0001651	inframe_deletion	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650469_41650471delTCC	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1101_1103delGGA	22.37:g.41650478_41650480delTCC	ENSP00000401470:p.Glu368del					RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del|RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del	p.EE367del			P46060	RAGP1_HUMAN			10	2570_2572	-			367			Asp/Glu-rich (highly acidic).		Q96JJ2	In_Frame_Del	DEL	ENST00000455915.2	37	c.1101_1103delGGA	CCDS14012.1																																																																																				0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		21	739						21	739	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:21627678_21627680delGAG	ENST00000379510.3	+	20	2671_2673	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_ENST00000425654.2_In_Frame_Del_p.E856del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886	Poly-Glu.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2545-2547)del		connector enhancer of kinase suppressor of Ras 2																																				SO:0001651	inframe_deletion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627678_21627680delGAG	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2635_2637delGAG	X.37:g.21627687_21627689delGAG	ENSP00000368824:p.Glu886del					CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		7	218						7	218	---	---	---	---
GNL3L	54552	broad.mit.edu	37	X	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)gggaag>ggg	p.K375del	GNL3L_ENST00000360845.2_In_Frame_Del_p.K375del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	375					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(1111-1116)ggg>gg		guanine nucleotide binding protein-like 3 (nucleolar)-like																																				SO:0001651	inframe_deletion	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54578339_54578341delGAA	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1113_1115delGAA	X.37:g.54578348_54578350delGAA	ENSP00000338573:p.Lys375del					GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			12	1252_1254	+			371						In_Frame_Del	DEL	ENST00000336470.4	37	c.1113_1115delGAA	CCDS14360.1																																																																																				0.557	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		7	349						7	349	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70360648	70360650	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:70360648_70360650delCAG	ENST00000374080.3	+	42	6240_6242	c.6208_6210delCAG	c.(6208-6210)cagdel	p.Q2076del	AL590764.1_ENST00000579622.1_RNA|MED12_ENST00000333646.6_In_Frame_Del_p.Q2079del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del			Q93074	MED12_HUMAN	mediator complex subunit 12	2076	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					gcaacagcaacagcagcagcagc	0.621			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6217-6219)del		mediator complex subunit 12				7,109,3423		0,0,6,1,1,78,29,1439,461						2.6	0.4			23	29,192,5891		2,0,16,9,2,98,90,2148,1481	no	codingComplex	MED12	NM_005120.2		2,0,22,10,3,176,119,3587,1942	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		3.6158,3.2778,3.4919				36,301,9314				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360648_70360650delCAG	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6208_6210delCAG	X.37:g.70360657_70360659delCAG	ENSP00000363193:p.Gln2076del					MED12_ENST00000374080.3_In_Frame_Del_p.Q2076del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del|MED12_ENST00000478889.1_3'UTR	p.Q2079del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6416_6418	+	Renal(35;0.156)		2076			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6217_6219delCAG	CCDS43970.1																																																																																				0.621	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	309						7	309	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:70360680_70360682delGCA	ENST00000374080.3	+	42	6272_6274	c.6240_6242delGCA	c.(6238-6243)cggcag>cgg	p.Q2086del	AL590764.1_ENST00000579622.1_RNA|MED12_ENST00000333646.6_In_Frame_Del_p.Q2089del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2085del			Q93074	MED12_HUMAN	mediator complex subunit 12	2086	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6247-6252)cgg>cg		mediator complex subunit 12																																				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360680_70360682delGCA	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6240_6242delGCA	X.37:g.70360689_70360691delGCA	ENSP00000363193:p.Gln2086del					MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del	p.RQ2083del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6448_6450	+	Renal(35;0.156)		2080			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6249_6251delGCA	CCDS43970.1																																																																																				0.586	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		9	264						9	264	---	---	---	---
HS6ST2	90161	broad.mit.edu	37	X	131762582	131762582	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:131762582delA	ENST00000370836.2	-	4	1902	c.1487delT	c.(1486-1488)ttgfs	p.L496fs	HS6ST2_ENST00000370833.2_Frame_Shift_Del_p.L390fs|HS6ST2_ENST00000406696.3_Frame_Shift_Del_p.L222fs|HS6ST2_ENST00000521489.1_Frame_Shift_Del_p.L536fs	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	496					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ATACCTCTGCAAAAAAAGGTC	0.453																																						ENST00000370836.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9						c.(1486-1488)tgfs		heparan sulfate 6-O-sulfotransferase 2							155.0	153.0	154.0					X																	131762582		1937	4110	6047	SO:0001589	frameshift_variant	90161					integral to membrane	sulfotransferase activity	g.chrX:131762582delA	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1487delT	X.37:g.131762582delA	ENSP00000359873:p.Leu496fs					HS6ST2_ENST00000370833.2_Frame_Shift_Del_p.L390fs|HS6ST2_ENST00000370837.1_Frame_Shift_Del_p.L350fs|HS6ST2_ENST00000406696.3_Frame_Shift_Del_p.L222fs|HS6ST2_ENST00000521489.1_Frame_Shift_Del_p.L536fs	p.L496fs	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN			4	1902	-	Acute lymphoblastic leukemia(192;0.000127)		496					B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Frame_Shift_Del	DEL	ENST00000370836.2	37	c.1487delT	CCDS48169.1																																																																																				0.453	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		10	1157						10	1157	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:135314194delG	ENST00000316077.9	-	8	1142	c.922delC	c.(922-924)cagfs	p.Q308fs	MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACATTCACCTGGGGGGGTGCA	0.532																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(922-924)agfs		MAP7 domain containing 3							179.0	175.0	176.0					X																	135314194		2042	4171	6213	SO:0001589	frameshift_variant	79649					cytoplasm|spindle		g.chrX:135314194delG	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.922delC	X.37:g.135314194delG	ENSP00000318086:p.Gln308fs					MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs	p.Q308fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1142	-	Acute lymphoblastic leukemia(192;0.000127)		308					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Frame_Shift_Del	DEL	ENST00000316077.9	37	c.922delC	CCDS44004.1																																																																																				0.532	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			7	1290						7	1290	---	---	---	---
HTATSF1	27336	broad.mit.edu	37	X	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:135585048_135585050delAAG	ENST00000218364.4	+	5	856_858	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_ENST00000535601.1_In_Frame_Del_p.K232del	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(682-684)del		HIV-1 Tat specific factor 1																																				SO:0001651	inframe_deletion	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135585048_135585050delAAG	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.682_684delAAG	X.37:g.135585057_135585059delAAG	ENSP00000218364:p.Lys232del					HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	p.K232del	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			6	1104_1106	+	Acute lymphoblastic leukemia(192;0.000127)		232			Poly-Lys.		D3DWG9|Q59G06|Q99730	In_Frame_Del	DEL	ENST00000218364.4	37	c.682_684delAAG	CCDS14657.1																																																																																				0.335	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		9	601						9	601	---	---	---	---
SPANXN3	139067	broad.mit.edu	37	X	142605149	142605149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:142605149delT	ENST00000370503.2	-	1	154	c.71delA	c.(70-72)aatfs	p.N24fs	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	24										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.453																																						ENST00000370503.2																			0				endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14						c.(70-72)atfs		SPANX family, member N3							221.0	189.0	200.0					X																	142605149		2203	4300	6503	SO:0001589	frameshift_variant	139067							g.chrX:142605149delT		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.71delA	X.37:g.142605149delT	ENSP00000359534:p.Asn24fs						p.N24fs	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN			1	154	-	Acute lymphoblastic leukemia(192;6.56e-05)		24					Q0ZNK4	Frame_Shift_Del	DEL	ENST00000370503.2	37	c.71delA	CCDS35418.1																																																																																				0.453	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		19	1005						19	1005	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000355149.3_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000355149.3_Intron	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	992						7	992	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		17	673						17	673	---	---	---	---
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(184-189)tgc>t		melanoma antigen family A, 10																																				SO:0001651	inframe_deletion	4109							g.chrX:151303906_151303908delAGG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.185_187delCCT	X.37:g.151303915_151303917delAGG	ENSP00000359347:p.Ser62del					RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del	p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	501_503	-	Acute lymphoblastic leukemia(192;6.56e-05)		62			Poly-Ser.			In_Frame_Del	DEL	ENST00000370323.4	37	c.185_187delCCT	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		9	658						9	658	---	---	---	---
